Gene Summary

Name:
golgi associated RAB2 interactor 1B
Synonyms:
Fam71f1,  LOC330277

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal testis morphology Fam71f1em1(IMPC)Ccpcz HOM Early adult 0.00
small testis Fam71f1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Fam71f1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Fam71f1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Fam71f1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal kidney morphology Fam71f1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Fam71f1em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating potassium level Fam71f1em1(IMPC)Ccpcz HOM Early adult 6.76×10-06
single kidney Fam71f1em1(IMPC)Ccpcz HOM Early adult 0.00

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Viewing: all phenotypes

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 Hind Leg and Hip

30 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Forepaw

15 Images

Human diseases caused by Garin1b mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Garin1b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Nondisjunction
Decreased fertility OMIM:158250
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicocele, Azoospermia, ... ORPHA:98798
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism, Renal agenesis OMIM:219050
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Abnormality of male internal genitalia, Male infertility OMIM:261550
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Endometriosis, Susceptibility To, 1
Endometriosis, Decreased fertility, Dysmenorrhea OMIM:131200
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure 4
Azoospermia OMIM:270960
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot, Perineal hypospadias, Cryptorchidism, Micropenis, Testicular dysgenesis, Amb... OMIM:615542
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Ureteral atresia, Bilateral renal agenesis, Double outlet right ventri... OMIM:618845
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Mic... OMIM:244200
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Cryptorchidism, Testicular seminoma, Acute leukemia, Renal insufficien... ORPHA:281090
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Cryptorchidism, Hyperkalemia, Renal salt wasting, Congenital hypothyroidism, Precoc... OMIM:614736
Renal Hypoplasia
Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality of the ureter, Decreased... ORPHA:93101
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotrop... OMIM:308750
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Decr... ORPHA:399805
Ethanolaminosis
Cardiomegaly OMIM:227150
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotrop... OMIM:308700
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Hypocalcemic seizures, Septate vagina, Uterus d... ORPHA:2237
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Tetralogy of Fallot, Cryptorchidism, Precocious puberty, Ventricular s... ORPHA:3306
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Ventricular septal defect, Truncus arteriosus OMIM:601355
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Hypopl... OMIM:601076
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Proteinuria, Aplasia/hypoplasia of the uterus, Bilater... ORPHA:411709
Isolated Follicle Stimulating Hormone Deficiency
Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism... ORPHA:52901
Ehlers-Danlos Syndrome, Classic-Like
Unilateral renal agenesis, Ambiguous genitalia, female, Mitral valve prolapse, Bicornuate uterus,... OMIM:606408
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Micropenis, Atrial septal defect, Ventricular septal defect, Ambiguous... OMIM:618142
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis OMIM:256690
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Elevated circulating creatinine con... OMIM:602088
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Perimembranous ventricular septal defect, Horseshoe kidney, Micropenis... ORPHA:363444
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal agenesis, Ectopic kidney, Horseshoe kidney, Bifid ureter, Decrea... OMIM:617641
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Unilateral renal agenesis, Glycosuria, Elevated circulating creatinine concentra... OMIM:137920
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Abnormality of the uterus, Multicystic kidney d... OMIM:617805
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Abnormality of the kidney, External genital hypoplasia, Renal dysplas... OMIM:615993
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Elevated circulating crea... ORPHA:2260
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf... OMIM:617091
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism OMIM:240950
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Decreased testicular size, Abnormal sperm head morphology... ORPHA:320391
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Unilateral renal agenesis, Proximal tubulopathy, Atrial septal defect, Splenomegaly... OMIM:614576
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Unilateral renal agenesis, Decreased response to growth hormone stimulation test,... OMIM:609757
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Vesicoureteral reflux ORPHA:2512
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the uterus, Amenorrhea, Aplasia of the vagina, Aplasia/Hypo... OMIM:158330
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Absent gallbladder, Cystic renal dysplasia, Splenogonadal fusion, Hors... OMIM:156810
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, ... ORPHA:361
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bifid clitoris, Bladder exstrophy, Epis... OMIM:600057
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia, Hypoplastic left heart OMIM:236110
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Unilateral renal agenesis, Atrial septal defect, Ventricular septal defect OMIM:608406
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Dilated cardiomyopathy, Hypothyroidism, Ectopic kidney, Cryptorchidism... OMIM:616541
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
Emanuel Syndrome
Unilateral renal agenesis, Infertility, Cryptorchidism, Micropenis, Renal hypoplasia, Atrial sept... ORPHA:96170
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Male infertility OMIM:614874
Asherman Syndrome
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... ORPHA:137686
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Amenorrhea, Azoosper... OMIM:235200
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Ectopic kidney, Horseshoe kidney, Hypoplasia of... ORPHA:3109
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Hyperhomocystinemia, Methylmalonic aciduria, Megaloblastic anemia, Ele... ORPHA:79284
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Renal salt wasting, Increased circ... OMIM:610600
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Mirage Syndrome
Hypoplastic spleen, Adrenal insufficiency, Hyponatremia, Leukopenia, Cryptorchidism, Hyperkalemia... OMIM:617053
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia, Myoglobinuria, Acute kidney injury OMIM:268200
Coach Syndrome 1
Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple small medullary r... OMIM:216360
Kennedy Disease
Erectile dysfunction, Abnormal circulating lipid concentration, Testicular atrophy, Type II diabe... ORPHA:481
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm OMIM:612650
Bifid Nose With Or Without Anorectal And Renal Anomalies
Unilateral renal agenesis, Renal agenesis, Rectovaginal fistula, Precocious puberty, Ebstein anom... OMIM:608980
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Hyperkalemia, Thrombocytopenia OMIM:141000
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Nephrotic syndrome, Hepatomegaly, Elevated circulating creatine kinase concentrat... OMIM:617713
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Hyperuricemia, Tubulointerstitial fibrosis... OMIM:613092
Diabetes Insipidus, Neurohypophyseal, X-Linked
Central diabetes insipidus, Hydronephrosis, Hypokalemia, Polyuria OMIM:304900
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Irregular menstruation, Cryptorchidism, Congenital hypothyroidism, Hyp... OMIM:101800
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Cryptorchidism, Hydronephrosis, Pulmonic stenosis, Thrombocytopenia, H... OMIM:616737
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Renal salt wasting, Decreased circ... OMIM:203400
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Irregular menstruation, Primary amenorrhea, Primary adrenal insufficiency, Elevated ... ORPHA:90793
Bone Marrow Failure Syndrome 5
Anemia, Pure red cell aplasia, Hypogonadism, Testicular atrophy OMIM:618165
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Attrv30M Amyloidosis
Impotence, Cardiomyopathy, Abnormal renal physiology, Nephropathy, Cardiomegaly ORPHA:85447
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia, Abnormality of female external genitalia, Decreased circulating corti... ORPHA:90790
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyponatremia, Hyperkalemia, Renal salt wasting, Hyperactive renin-angiotensin system, Pseudohypoa... OMIM:264350
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Increased circulating renin level, Hypercalciuria... OMIM:601198
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal circulating corticosteron... ORPHA:556037
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Isolated Splenogonadal Fusion
Abnormality of the epididymis, Unilateral cryptorchidism, Abnormal penis morphology, Ectopia of t... ORPHA:457083
Thymic Aplasia With Fetal Death
Renal agenesis, Abnormality of the endocrine system, Ureteral agenesis, Truncus arteriosus OMIM:274210
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Renal cyst, Stage 5 chronic kidney disease, Ure... OMIM:614527
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Cryptorchidism, Unilateral renal agenesis, Renal dysplasia, Multicystic kidney dysplasia OMIM:308205
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Increa... ORPHA:90794
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, Myoglobinuria, Hemoly... ORPHA:57
Leopard Syndrome 1
Unilateral renal agenesis, Cryptorchidism, Micropenis, Subvalvular aortic stenosis, Hypertrophic ... OMIM:151100
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal circulating corticosteron... ORPHA:556030
Birk-Landau-Perez Syndrome
Hyperkalemia, Tubulointerstitial nephritis, Hyperechogenic kidneys, Renal insufficiency OMIM:617595
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Hemolytic anemia, Hepatomegaly, Splenomegaly OMIM:608885
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Unilateral renal agenesis, Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing h... ORPHA:95699
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Male infertility, Immotile sperm, Abs... OMIM:613807
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Nephrocalcinosis, Hepatosplenomegaly, Isothenuria, Distal renal tubular acidosis, He... OMIM:611590
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Myoglobinuria OMIM:145600
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia, Hepatome... OMIM:269920
Braddock Syndrome
Unilateral renal agenesis ORPHA:52047
Genetic Recurrent Myoglobinuria
Oliguria, Acute kidney injury, Hyperkalemia, Hypocalcemia, Highly elevated creatine kinase, Recur... ORPHA:99845
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Nephrocalcinosis, Elevated circulating creatinine concentration, Nephrolithiasis, Di... OMIM:179800
Wolfram Syndrome 1
Hydroureter, Hypothyroidism, Sideroblastic anemia, Diabetes insipidus, Megaloblastic anemia, Hydr... OMIM:222300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Renal cyst, Cryptorchidism, Posterior pituitary hypoplasia, Micropenis... ORPHA:464311
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618419
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Hypoadrenocorticism, Familial
Adrenal insufficiency, Hyperkalemia, Hyponatremia, Adrenal hypoplasia OMIM:240200
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Renal agenesis, Hypocholesterolemia, Small scrotum, Elevated 7-dehydro... OMIM:270400
Addison Disease
Primary adrenal insufficiency, Hashimoto thyroiditis, Thymoma, Premature ovarian insufficiency, A... ORPHA:85138
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Renal cyst, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis,... ORPHA:464306
Pseudohypoaldosteronism, Type Iia
Hyperkalemia, Pseudohypoaldosteronism OMIM:145260
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Decreased fertility, Testicular atrophy OMIM:313200
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Muscular ventricular septal defect, Renal agenesis OMIM:619227
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Increased circulating renin level, Hyperkalemia, Hyperactive renin-angiotensin syst... OMIM:177735
Intellectual Developmental Disorder, Autosomal Dominant 36
Unilateral renal agenesis OMIM:616362
Penoscrotal Transposition
Renal agenesis, Abnormality of the ureter, Shawl scrotum, Abnormal external genitalia, Renal dysp... ORPHA:2842
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Hypokalemia, Adrenogenital syndrome, Hypopla... OMIM:202010
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Cryptorchidism, Hydronephrosis, Aplasia/hypoplasia of the uterus, Enur... ORPHA:96121
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Infertility, Hypothy... ORPHA:465508
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Irregular menstruation, Testicular adrenal rest tumor, Decreased circulating renin l... ORPHA:90795
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Lymphadenitis, Leukocytosis, Proteinuria, Acute kid... OMIM:618886
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Testicular atrophy OMIM:613987
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Ectopic kidney, Azoospermia, Aplasia/hypoplasia of the uterus, Renal dysplasia, B... ORPHA:2578
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Abnormality of the endocrine system, Ureteral agenesis OMIM:274265
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Aplasia of the uterus, Perineal hypospadias, Primary amenorrhea, Azoospe... ORPHA:90797
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Hyponatremia, Abnormal circulating aldosterone, Increased circulating renin level... ORPHA:171876
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, ... OMIM:618652
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Abnormality of the kidney OMIM:118100
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Renal potassium wasting, Hypomag... ORPHA:564178
Sickle Cell Anemia
Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis, Hematuria, Splenome... OMIM:603903
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemoly... ORPHA:90044
Serkal Syndrome
Renal agenesis, Abnormal penis morphology, Hypospadias, Pulmonic stenosis, Hypoplasia of the blad... ORPHA:139466
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Unilateral renal agenesis, Abnormal pulmonary valve morphology, Hypothyroidism, Aortic valve sten... ORPHA:268261
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614495
Familial Hypoaldosteronism
Adrenal insufficiency, Hyponatremia, Decreased urinary potassium, Increased circulating renin lev... ORPHA:427
Digeorge Syndrome
Cholelithiasis, Unilateral renal agenesis, Hypothyroidism, Truncus arteriosus, Tetralogy of Fallo... OMIM:188400
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Nephrolithiasis, Patent foramen ovale, Biventricular hypertrophy, Decreased circulat... OMIM:615474
Familial Hyperaldosteronism Type Iii
Hypokalemia, Left ventricular hypertrophy, Hypercalciuria, Glucocortocoid-insensitive primary hyp... ORPHA:251274
Timothy Syndrome
Hypothyroidism, Tetralogy of Fallot, Patent foramen ovale, Hypocalcemia, Ventricular septal defec... OMIM:601005
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Vacuolated lymphocytes, Proteinuria, Splenomega... OMIM:256550
Congenital Toxoplasmosis
Hepatomegaly, Anemia, Lymphadenopathy, Cardiomegaly, Thrombocytopenia ORPHA:858
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Acute Adrenal Insufficiency
Primary adrenal insufficiency, Hyponatremia, Decreased female libido, Hypercalcemia, Increased ci... ORPHA:95409
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614496
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Anemia, Decreased circulating cortisol level,... OMIM:618838
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Hypokalemia, Nephrocalcinosis, Abnormal urine sodium c... ORPHA:320
Liddle Syndrome
Hypokalemia, Nephropathy, Renal insufficiency ORPHA:526
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Renal tubular acidosis, Hepatomegaly, Elevated circulating creatine kin... OMIM:255120
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Hyperaldosteronism, Hypercalciuria, Polyuria, Decreased circulating renin level, Adr... OMIM:613677
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level, Hypercalciuria, Poly... OMIM:300971
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Total anomalous pulmonary venous return, Hydronephrosis, Thrombocytope... ORPHA:487796
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Hyperaldosteronism, Nephrolithiasis, Ventricular septal defect, Ventricular hypertro... ORPHA:369929
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Proximal tubulo... OMIM:241150
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly, Hyperalaninemia OMIM:619170
Pallister-Hall Syndrome
Unilateral renal agenesis, Primary adrenal insufficiency, Cryptorchidism, Panhypopituitarism, Cen... ORPHA:672
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Oligospermia, Macroorchidism, Male infertili... ORPHA:8
Renal Tubular Acidosis Iii
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis OMIM:267200
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Unilateral renal agenesis, Cryptorchidism, Pelvic kidney, Microphallus, Abnormal renal collecting... ORPHA:468631
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, Myoglobinuria, Cardio... ORPHA:423
Neurofaciodigitorenal Syndrome
Cryptorchidism, Unilateral renal agenesis ORPHA:2673
Fanconi Renotubular Syndrome 1
Glycosuria, Hypokalemia, Lacticaciduria, Renal tubular dysfunction, Proteinuria, Aminoaciduria, R... OMIM:134600
Cockayne Syndrome Type 3
Unilateral renal agenesis, Urinary retention, Hydronephrosis, Renal hypoplasia, Splenomegaly, Hep... ORPHA:90324
Neuroleptic Malignant Syndrome
Hyponatremia, Leukocytosis, Proteinuria, Thrombocytosis, Hyperkalemia, Hypocalcemia, Acute kidney... ORPHA:94093
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Hypokalemia, Nephrocalcinosis, Distal renal tubular acidosis OMIM:602722
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Fanconi Anemia, Complementation Group A
Pancytopenia, Renal agenesis, Ectopic kidney, Horseshoe kidney, Leukemia, Cryptorchidism, Neutrop... OMIM:227650
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia ORPHA:563609
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Unilateral renal agenesis, Decreased proportion of CD4-positive helper T cells, Recurrent urinary... ORPHA:221139
Fanconi Anemia, Complementation Group E
Pancytopenia, Renal agenesis, Ectopic kidney, Horseshoe kidney, Leukemia, Cryptorchidism, Neutrop... OMIM:600901
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiom... OMIM:600649
Leigh Syndrome With Nephrotic Syndrome
Renal cyst, Renal tubular acidosis, Nephrotic syndrome, Tubulointerstitial nephritis, Heavy prote... ORPHA:255249
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Primary amenorrhea, Abnormal morphology... ORPHA:99429
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, ... OMIM:266810
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyperkalemia, Hypokalemia, Hyponatremia ORPHA:682
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Decreased plasma carnitine, Hepatomegaly... OMIM:212140
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis, Bicornuate uterus, Ventricular septal defect, Tetralogy of Fallot OMIM:154400
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Cryptorchidism, Supernumerary nipple, Bilateral renal agenesis, Hydrou... OMIM:619194
Cockayne Syndrome
Unilateral renal agenesis, Nephrotic syndrome, Proteinuria, Cryptorchidism, Renal hypoplasia, Ren... ORPHA:191
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Ca... OMIM:252920
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hypokalemia, Hyperthyroidism OMIM:613239
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Nephrocalcinosis, Enlarged kidney, Nephrolithiasis, Adrenocortical carcinom... OMIM:130650
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Abnormality of the uterine cervix, Renal agenesis, Dysmenorrhea, Hydrocol... ORPHA:3411
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Abnormal labia morphology, Male infertility, Abnormal sex det... ORPHA:251510
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Cardiomegaly, Atrial septal defect, Abnormal mitral valve mo... ORPHA:860
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Cystic renal dysplasia, Decreased plasma total carnitine, Hyperli... ORPHA:228308
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hypokalemia, Hyperthyroidism OMIM:188580
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Unilateral renal agenesis, Ventricular septal defect, Tricuspid valve prolapse ORPHA:261337
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Hyperprolinemia, Cardiomegaly, Hyperalaninemia OMIM:619064
Attrv122I Amyloidosis
Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Anemia, Restrictive cardiomyopath... ORPHA:85451
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, Cardiomegaly, ... ORPHA:324410
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Polyuria, Renal magnesium wasting, Renal potassium wasting, Hypomagnesemia OMIM:618314
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Hypokalemia, Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-was... OMIM:604278
Helix Syndrome
Hypokalemia, Hypermagnesemia, Nephrolithiasis, Polyuria, Renal insufficiency, Hyperparathyroidism... OMIM:617671
Refsum Disease, Classic
Cardiomegaly, Abnormal renal physiology, Elevated levels of phytanic acid, Cardiomyopathy OMIM:266500
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Cryptorchidism, Secondary amenorrhea, Male in... ORPHA:79239
Oculoskeletodental Syndrome
Renal agenesis, Hypothyroidism, Hypercalcemia, Cryptorchidism, Hypercalciuria, Hypocalcemia, Sple... OMIM:618440
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos, Renal agenesis OMIM:192050
Lumbar Syndrome
Renal agenesis, Hypoplastic labia majora, Renal duplication, Cryptorchidism, Micropenis, Bladder ... ORPHA:83628
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... OMIM:300257
Cystinosis
Hypokalemia, Hypothyroidism, Renal tubular dysfunction, Delayed puberty, Proteinuria, Aminoacidur... ORPHA:213
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Reduced renal corticomedullary differentiation, Hypochloremia, Decreas... OMIM:602522
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Hypomagnesemia 2, Renal
Hypokalemia, Renal insufficiency, Renal magnesium wasting, Hypomagnesemia, Hypocalciuria OMIM:154020
Mulibrey Nanism
Pericardial constriction, Hepatomegaly, Nephroblastoma, Cardiomegaly, Myocardial fibrosis OMIM:253250
Familial Hyperaldosteronism Type Ii
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Secretor... ORPHA:404
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated ... ORPHA:42
Colchicine Poisoning
Oliguria, Hypokalemia, Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypocalcemia... ORPHA:31824
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Thyrotoxicosis with toxic multinodular goiter, Thyrotoxicosis with diffuse ... ORPHA:79102
Infection-Related Hemolytic Uremic Syndrome
Oliguria, Hyponatremia, Leukocytosis, Decreased urine output, Acute kidney injury, Anuria, Hyperk... ORPHA:544482
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating creat... OMIM:201475
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Elevated circulating creatinine concentration, Decreased glomerular filtrat... OMIM:174000
Lead Poisoning
Abnormal sperm morphology, Infertility, Decreased female libido, Miscarriage, Oligospermia, Decre... ORPHA:330015
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly, Hyperalaninemia, Hyperammonemia OMIM:619051
Zttk Syndrome
Unilateral renal agenesis, Absent gallbladder, Horseshoe kidney, Atrial septal defect, Polyuria, ... OMIM:617140
Lysosomal Acid Lipase Deficiency
Primary adrenal insufficiency, Hyponatremia, Hepatosplenomegaly, Vacuolated lymphocytes, Hypercho... ORPHA:275761
Nephronophthisis 13
Stage 5 chronic kidney disease, Pancreatic cysts, Renal hypoplasia, Nephronophthisis, Mild protei... OMIM:614377
Familial Hyperaldosteronism Type I
Hypokalemia, Dexamethasone-suppressible primary hyperaldosteronism, Adrenal hyperplasia, Secretor... ORPHA:403
Hemorrhagic Fever-Renal Syndrome
Oliguria, Acute tubulointerstitial nephritis, Leukocytosis, Elevated circulating creatinine conce... ORPHA:340
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Beaulieu-Boycott-Innes Syndrome
Renal agenesis, Horseshoe kidney, Recurrent urinary tract infections, Ventricular septal defect, ... OMIM:613680
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Abnormality of endocrine pancreas physiology, Hypothyroidism, Papillary cystadeno... ORPHA:93111
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia, Infertility, Adrenal hyperplasia, Oligomenorrhea, Increased urinary cortisol level, ... ORPHA:786
Vacterl/Vater Association
Renal agenesis, Ectopic kidney, Abnormal morphology of female internal genitalia, Cryptorchidism,... ORPHA:887
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Decreased plasma total carnitine, Elevated circulating c... OMIM:608836
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Cardiomegaly, Ventricular septal defect, Overriding aorta OMIM:617022
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Histiocytosis, Azoospermia, Micropenis, Pancreatic hypoplasia, Atrial septal ... OMIM:602782
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Renal agenesis, Ovotestis, Adrenal gland agenesis, Hypoplasia of the bladder, Ventricular septal ... OMIM:611812
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Hypokalemia, Abnormality of reproductive sys... ORPHA:1501
Lesch-Nyhan Syndrome
Nephrolithiasis, Hyperuricosuria, Megaloblastic anemia, Hyperuricemia, Testicular atrophy OMIM:300322
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Liddle Syndrome 1
Decreased circulating aldosterone level, Hypokalemia, Decreased circulating renin level, Renal in... OMIM:177200
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Small pituitary gland, Hepatosplenomegaly, Cryptorchidism, Micropenis,... OMIM:619503
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hydronephrosis, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly,... OMIM:616897
Tsh-Secreting Pituitary Adenoma
Hypokalemia, Infertility, Irregular menstruation, Euthyroid hyperthyroxinemia, Erectile dysfuncti... ORPHA:91347
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Iron deficiency anemia, Cardiomegaly ORPHA:99931
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Decreased glomerular filtration rate, Polyuria, Renal s... OMIM:613090
Caudal Regression Syndrome
Renal agenesis, Ectopic kidney, Abnormality of the ureter, Maternal diabetes, Ureteral duplicatio... ORPHA:3027
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypokalemia, Increased C-peptide level, Hypothyroidism, Nephrocalcinosis, ... ORPHA:769
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular hypertrophy, Ventricular septal hypertroph... OMIM:115197
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Renal cortical adenoma, Ovarian neoplasm, Glucocortocoid-insensitive primary hyperal... ORPHA:231632
Ethylene Glycol Poisoning
Renal tubular dysfunction, Decreased urine output, Hematuria, Hyperkalemia, Hypocalcemia, Renal i... ORPHA:31826
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Hypothyroidism, Hyponatremia, Elevated circulating creatinine concentrat... ORPHA:411634
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin l... ORPHA:231580
Pentalogy Of Cantrell
Renal agenesis, Absent gallbladder, Tetralogy of Fallot, Abnormal pericardium morphology, Atrial ... ORPHA:1335
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Impotence, Cardiomyopathy OMIM:105210
Kallmann Syndrome
Renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogona... ORPHA:478
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Nephrocalcinosis, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypochloremia,... OMIM:601678
Fanconi Anemia, Complementation Group C
Pancytopenia, Renal agenesis, Ectopic kidney, Horseshoe kidney, Leukemia, Bone marrow hypocellula... OMIM:227645
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Myotonic Dystrophy 1
Cholelithiasis, Hypogonadism, Testicular atrophy OMIM:160900
East Syndrome
Hypokalemia, Increased circulating renin level, Enuresis, Renal salt wasting, Renal sodium wastin... ORPHA:199343
Pearson Syndrome
Pancytopenia, Glycosuria, Hypokalemia, Hypothyroidism, Lacticaciduria, Proteinuria, Anemia, Diabe... ORPHA:699
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Kallmann Syndrome-Heart Disease Syndrome
Renal agenesis, Dilated cardiomyopathy, Hypogonadotropic hypogonadism, Micropenis, Double outlet ... ORPHA:2326
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Abnormality of the lower urinary tract, Abnormal concentration of ac... ORPHA:391428
Fixed Subaortic Stenosis
Bacterial endocarditis, Pulmonic stenosis, Abnormal heart morphology, Ventricular septal defect, ... ORPHA:3092
Pseudotrisomy 13 Syndrome
Renal agenesis, Complete atrioventricular canal defect, Tricuspid atresia, Cryptorchidism, Renal ... OMIM:264480
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Proboscis Lateralis
Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis, External genital hypop... ORPHA:141099
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
Cystinosis, Nephropathic
Glycosuria, Hypokalemia, Proteinuria, Hypophosphatemic rickets, Polyuria, Male hypogonadism, Diab... OMIM:219800
Exstrophy-Epispadias Complex
Male sexual dysfunction, Cryptorchidism, Absent penis, Renal dysplasia, Bladder duplication, Cyst... ORPHA:322
Mogs-Cdg
Hypothyroidism, Hepatosplenomegaly, Left ventricular hypertrophy, Atrial septal defect, Inappropr... ORPHA:79330
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomega... OMIM:231005
Liddle Syndrome 3
Hypokalemia OMIM:618126
Bartter Syndrome, Type 3
Impaired reabsorption of chloride, Hypokalemia, Increased circulating renin level, Renal potassiu... OMIM:607364
Nelson Syndrome
Pituitary corticotropic cell adenoma, Adrenocorticotropic hormone excess, Pituitary carcinoma, Hy... ORPHA:199244
Fanconi Anemia, Complementation Group D2
Pancytopenia, Renal agenesis, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Leukemia, Bone... OMIM:227646
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Glycosuria, Hypokalemia, Renal tubular dysfunction, Hyperphosphaturia,... OMIM:227810
Aromatase Deficiency
Primary amenorrhea, Cryptorchidism, Ambiguous genitalia, female, Enlarged polycystic ovaries, Mal... ORPHA:91
Penile Agenesis
Fetal pyelectasis, Urethral atresia, male, Cystic renal dysplasia, Urethral fistula, Maternal dia... ORPHA:49
Cantu Syndrome
Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Pericardial effusion OMIM:239850
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Coronary Arterial Fistula
Right ventricular dilatation, Patent foramen ovale, Atrial septal defect, Bacterial endocarditis,... ORPHA:2041
Primary Fanconi Renotubular Syndrome
Glycosuria, Generalized aminoaciduria, Hypokalemia, Hyperuricosuria, Bicarbonaturia, Hypercalciur... ORPHA:3337
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Pyelonephritis, Dilatation of the ventricular cavity, Bladder divertic... ORPHA:90348
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Absent gallbladder, Horseshoe kidney, Atrial septal defect, Abnormal h... ORPHA:500150
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Renal potassium wasting, Polyuria, Enuresis, Rena... OMIM:612780
Cirrhotic Cardiomyopathy
Right atrial enlargement, Cardiomegaly, Abnormal B-type natriuretic peptide level, Abnormal A-typ... ORPHA:57777
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Renal agenesis, Elevated 8-dehydrocholesterol, Hydronephrosis, Adrenal hypoplasia, Single ventric... OMIM:308050
Gitelman Syndrome
Hypokalemia, Proteinuria, Hashimoto thyroiditis, Iron deficiency anemia, Hypomagnesemia, Neoplasm... ORPHA:358
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hydronephrosis, Hepatomegaly, Elevated circulating creatine kinase concen... OMIM:614921
Sandhoff Disease
Cardiomegaly, Hepatosplenomegaly, Hepatomegaly, Impotence, Urinary incontinence OMIM:268800
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Decreased serum te... OMIM:305400
Vipoma
Hypokalemia, Hypercalcemia, Abnormality of the thyroid gland, Parathyroid adenoma, Primary hyperp... ORPHA:97282
Bartter Syndrome Type 4
Hypokalemia, Nephrocalcinosis, Hyponatremia, Hypochloremia, Increased circulating renin level, Ac... ORPHA:89938
Beckwith-Wiedemann Syndrome
Hypothyroidism, Adrenocortical carcinoma, Cryptorchidism, Cardiomegaly, Adrenocortical cytomegaly... ORPHA:116
Distal Renal Tubular Acidosis
Hypokalemia, Nephrocalcinosis, Hypermagnesiuria, Renal cyst, Nephrolithiasis, Hypocitraturia, Hyp... ORPHA:18
8Q24.3 Microdeletion Syndrome
Unilateral renal agenesis, Complete atrioventricular canal defect, Truncus arteriosus, Dysplastic... ORPHA:508488
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Nephrolithiasis, Oligomenorrhea, Pituitary adenoma, Increased circulating ACTH level OMIM:219090
Exercise-Induced Malignant Hyperthermia
Oliguria, Acute kidney injury, Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase c... ORPHA:466650
Glycogen Storage Disease Ii
Elevated circulating creatine kinase concentration, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:232300
Fucosidosis
Vacuolated lymphocytes, Oligosacchariduria, Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:230000
Cholera
Hypokalemia, Hyponatremia, Decreased urine output, Acute kidney injury, Abnormal blood ion concen... ORPHA:173
Fucosidosis
Cardiomegaly, Hypothyroidism, Hepatomegaly, Mucopolysacchariduria ORPHA:349
Leprechaunism
Hypokalemia, Nephrocalcinosis, Enlarged kidney, Central hypothyroidism, Increased circulating ren... ORPHA:508
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Hepatomegaly, Chronic hemolytic anemia, Hemolytic... OMIM:618278
Fraser Syndrome 2
Renal agenesis, Ambiguous genitalia, Aplasia of the bladder, Renal hypoplasia OMIM:617666
Oeis Complex
Renal agenesis, Hydroureter, Rectovaginal fistula, Cryptorchidism, Micropenis, Hydronephrosis, Bl... OMIM:258040
Infantile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Renal Fanconi syndrome, Renal tubular dysfunction, Abnormality of thyroi... ORPHA:411629
45,X/46,Xy Mixed Gonadal Dysgenesis
Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, Ambiguous genital... ORPHA:1772
Proximal Renal Tubular Acidosis
Glycosuria, Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Bicarbonaturia, Hyperuricosuria, Hype... ORPHA:47159
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Hypoplastic left heart, Bicuspid aortic valve, Aortic valve at... ORPHA:1457
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase, Adrenocortical adenoma ORPHA:681
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Schistocytosis, Hyponatremia, Elevated circulating creatinine concentration, Leukocy... ORPHA:90038
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Labial hypertrophy, Hepatomegaly, Precocious puberty, Neonatal insulin-dependent ... ORPHA:96191
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal agenesis, Ectopic kidney, Horseshoe kidney, Mitral atresia, Labial hypoplasia, Renal insuff... ORPHA:140952
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Atrial septal defect, Muscular ventricular septal... ORPHA:439
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Oligospermia, Male infertility, Abnormal testis morphology, Hypogonadism ORPHA:85450
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Atrial septal defect, Ventricular septal defect, Bicuspid aortic... ORPHA:363705
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Gitelman Syndrome
Hypokalemia, Delayed puberty, Increased circulating renin level, Polyuria, Enuresis, Nocturia, Re... OMIM:263800
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Hypokalemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Neoplasm of the adrenal gland, Glucocortocoid-insensitive primary hyperaldosteronism... ORPHA:231625
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Pollakisuria, Cardiomegaly, Right ventricular... ORPHA:268
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating creatine kina... ORPHA:308552
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Hypokalemia, Decreased circulating renin level OMIM:218030
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Hyperactive renin-angiotensin system, Hyperaldosteronism OMIM:214700
Truncus Arteriosus
Tetralogy of Fallot, Abnormal heart valve morphology, Right ventricular hypertrophy, Atrial septa... ORPHA:3384
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Cardiomegaly, Hepatomegaly OMIM:618143
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Cardiomegaly, Thrombocytopenia OMIM:608013
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Nephrocalcinosis, Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased seru... OMIM:241200
Abetalipoproteinemia
Hypothyroidism, Hypotriglyceridemia, Hepatomegaly, Acanthocytosis, Decreased HDL cholesterol conc... ORPHA:14
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Muc... OMIM:252500
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy OMIM:619259
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Abnormal cardiac a... ORPHA:1329
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Diabetes insipidus, Proteinuria, Cryptorchidism, Anemia, Hyperaldosteronism, Thrombo... ORPHA:534
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Pineal cyst, Patent foramen ovale, Cryptorchidism, Atrial septal ... OMIM:300967
Osteootohepatoenteric Syndrome
Hypokalemia, Increased serum bile acid concentration, Grade II vesicoureteral reflux, Proteinuria... OMIM:619377
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Unilateral renal agenesis, D-2-hydroxyglutaric aciduria, Secundum atrial septal defect, Subarteri... ORPHA:99646
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Central diabetes insipidus, Renal agenesis, Hypogonadotropic hypogonadism, Bladder diverticulum, ... OMIM:604292
Williams Syndrome
Hypothyroidism, Proteinuria, Cryptorchidism, Recurrent urinary tract infections, Ventricular sept... ORPHA:904
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:261740
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Hypokalemia, Atrioventricular canal defect, Biventricular hypertrophy, Au... OMIM:619573
Thoracoabdominal Syndrome
Renal agenesis, Hypospadias, Ectopia cordis, Transposition of the great arteries OMIM:313850
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Hypokalemia, Leukopenia, Elevated circulating creatinine concentr... ORPHA:99826
Histiocytoid Cardiomyopathy
Renal cyst, Polycystic ovaries, Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:137675
Cantú Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology ORPHA:1517
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Mercury Poisoning
Hypokalemia, Acute kidney injury ORPHA:330021
Mucopolysaccharidosis Type 3
Abnormal myocardium morphology, Abnormal mitral valve morphology, Urinary glycosaminoglycan excre... ORPHA:581
Bohring-Opitz Syndrome
Cholelithiasis, Urinary retention, Nephroblastoma, Annular pancreas, Cardiomegaly, Abnormal cardi... ORPHA:97297
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Irregular menstruation, Parotitis, Elevated circulating C-reactive protein con... OMIM:256040
X-Linked Intellectual Disability, Snyder Type
Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy, Hypospadias ORPHA:3063
Naxos Disease
Cardiomegaly, Right ventricular cardiomyopathy, Dilated cardiomyopathy, Abnormal morphology of ri... OMIM:601214
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Left ventricular... OMIM:245600
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Hepatocellular Carcinoma
Hypokalemia, Polycythemia, Hyponatremia, Hypercalcemia, Thrombocytosis, Hepatomegaly, Anemia, Hyp... ORPHA:88673
Coccidioidomycosis
Abnormality of the female genitalia, Abnormal sperm morphology, Abnormality of the male genitalia ORPHA:228123
Aicardi-Goutières Syndrome
Hypothyroidism, Hepatosplenomegaly, Micropenis, Hypertrophic cardiomyopathy, Neonatal alloimmune ... ORPHA:51
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Abnormality of the thymus ORPHA:2463
Proteus Syndrome
Renal cyst, Diabetes insipidus, Testicular neoplasm, Splenomegaly, Long penis, Ovarian neoplasm, ... ORPHA:744
Steinert Myotonic Dystrophy