Gene Summary

Name:
fatty acid desaturase domain family, member 6
Synonyms:
OTTMUSG00000021749,  BC050213

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
persistence of hyaloid vascular system Fads6tm1b(EUCOMM)Wtsi HOM Early adult 3.67×10-14
abnormal retina blood vessel morphology Fads6tm1b(EUCOMM)Wtsi HOM Early adult 1.47×10-06
abnormal cecum morphology Fads6tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal retina morphology Fads6tm1b(EUCOMM)Wtsi HOM Early adult 3.38×10-11
increased circulating creatinine level Fads6tm1b(EUCOMM)Wtsi HOM Early adult 2.27×10-07
abnormal retina vasculature morphology Fads6tm1b(EUCOMM)Wtsi HOM   Early adult 1.37×10-05
abnormal duodenum morphology Fads6tm1b(EUCOMM)Wtsi HOM Early adult 0.00
enlarged uterus Fads6tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased blood urea nitrogen level Fads6tm1b(EUCOMM)Wtsi HOM Early adult 6.45×10-09
increased circulating calcium level Fads6tm1b(EUCOMM)Wtsi HOM Early adult 4.74×10-07
abnormal skin morphology Fads6tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased circulating potassium level Fads6tm1b(EUCOMM)Wtsi HOM Early adult 7.48×10-10
abnormal vitreous body morphology Fads6tm1b(EUCOMM)Wtsi HOM Early adult 1.48×10-05

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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 Whole Body Dorso Ventral

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

2 Images

Human diseases caused by Fads6 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 Fads6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Papilledema OMIM:240150
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Alpha-Heavy Chain Disease
Malabsorption, Premature ovarian insufficiency, Hypocalcemia, Abnormality of the small intestine ORPHA:100025
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Hypercalcemia ORPHA:2123
46,Xy Sex Reversal 4
High palate, Hypoplastic labia majora, Elevated circulating creatinine concentration, Increased b... OMIM:154230
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Micropenis, Hypospadias, Hypercalcemia OMIM:614732
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Infantile Myofibromatosis
Hypercalcemia, Tracheoesophageal fistula, Abnormal intestine morphology, Intestinal obstruction ORPHA:2591
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Coach Syndrome 2
Chorioretinal coloboma, Elevated circulating creatinine concentration, Coloboma OMIM:619111
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Donnai-Barrow Syndrome
Intestinal malrotation, Retinal detachment, Abnormality of the uterus, Retinal dystrophy, Bicornu... ORPHA:2143
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Mucocutaneous Ulceration, Chronic
Vaginal mucosal ulceration, Ileitis OMIM:618287
Rhabdoid Tumor
Neoplasm of the liver, Hypercalcemia ORPHA:69077
Abetalipoproteinemia
Abetalipoproteinemia, Retinopathy, Fat malabsorption, Retinal degeneration OMIM:200100
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Malabsorption ORPHA:172
Paternal Uniparental Disomy Of Chromosome 1
Abnormal retinal morphology on macular OCT, Increased blood urea nitrogen, Macular dystrophy, Hyp... ORPHA:251004
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Non-Functioning Paraganglioma
Hypertensive retinopathy, Hypercalcemia ORPHA:94080
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypertensive retinopathy, Hypercalcemia OMIM:171420
Oculoskeletodental Syndrome
Hypercalcemia, Cryptorchidism, Hypocalcemia, Macroglossia, Protein-losing enteropathy OMIM:618440
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Protein-losing enteropathy, Villous atrophy OMIM:615863
Azotemia, Familial
Azotemia OMIM:109160
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
C3 Glomerulopathy
Yellow/white lesions of the retina, Elevated circulating creatinine concentration, Central serous... ORPHA:329918
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Preeclampsia
Polycystic ovaries, Elevated circulating creatinine concentration, Helicobacter pylori infection ORPHA:275555
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Alg6-Cdg
Retinal degeneration, Macroglossia, Rod-cone dystrophy, Protein-losing enteropathy, Hypoalbuminem... ORPHA:79320
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Hyperkalemia, Precocious puberty, Hyponatremia OMIM:614736
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Peptic ulcer, Hypercalcemia OMIM:145981
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia, Gonadal dysgenesis OMIM:615041
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Gastrointestinal carcinoma, Hypokalemia, Hypocalcemia, Hamartomatous polyposis, Mal... OMIM:175500
Hypophosphatasia
Hypercalcemia ORPHA:436
Eales Disease
Subhyaloid hemorrhage, Vitritis, Retinal vasculitis, Retinal thinning, Rhegmatogenous retinal det... ORPHA:40923
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Retinal dy... ORPHA:231736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Retinal dysplasia, Optic atrophy OMIM:613154
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Malabsorption, Protein-losing enteropathy, Villous atrophy, Hypoph... ORPHA:398063
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Peptic ulcer, Hypercalcemia OMIM:600740
2P21 Microdeletion Syndrome
Hypocalcemia, Cystinuria, Hypogonadism ORPHA:163693
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia, Celiac disease, Premature ovarian insufficiency ORPHA:199299
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Abnormal blood ion concentration, Aganglionic megacolon, Abnormalit... ORPHA:95427
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Bifid uvula, Cleft palate OMIM:258320
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration OMIM:221400
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:268200
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Cryptorchidism, Micropenis, Hypocalcemia, Retinal detachment, Hypospadias OMIM:607143
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Retinal neovascularization, Retina... OMIM:193220
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Vitreous hemorrhage, Retinal infarction,... OMIM:180080
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... ORPHA:231111
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertensive retinopathy, Hypercalcemia ORPHA:276621
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Addison Disease
Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Hyperuricemia, Prim... ORPHA:85138
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Hyperpepsinogenemia I, Duodenal ulcer OMIM:126840
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Elevated circulating creatinine concentration, Retinal cotton wool s... ORPHA:247691
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Pheochromocytoma
Hypertensive retinopathy, Hypercalcemia OMIM:171300
Pancreatic Lipase Deficiency
Fat malabsorption, Hypolipidemia, Steatorrhea OMIM:614338
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Retinal capillary hemangioma, Hypertensive retinopathy, Hypercalcemia ORPHA:29072
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Hyperglycinemia, Protein-losing enteropathy OMIM:619063
Mirage Syndrome
Achalasia, Hyponatremia, Cryptorchidism, Hyperkalemia, Gastroesophageal reflux, Shawl scrotum, Es... OMIM:617053
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hypercalcemia, Hypophosphatemia, Calcinosis OMIM:239200
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Testicular neoplasm, Infantile hypercalcemia, Uterine leiomyoma, Dysphagia, Hypoph... ORPHA:99880
Duodenal Ulcer, Hyperpepsinogenemic I
Hyperpepsinogenemia I, Duodenal ulcer OMIM:126850
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Small bowel diverticula, Retinal detachment, Colonic diverticula OMIM:223330
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal labia majora morphology, Hyponatremia, Increased circulating renin level, Cryptorchidism... ORPHA:90791
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Hypocalcemic seizures, Septate vagina, Uterus didelphys, Hypocalcemia, Vag... ORPHA:2237
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration, Decreased LDL cholesterol concentration OMIM:615558
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Parathyroid Carcinoma
Hypercalcemia, Testicular neoplasm, Infantile hypercalcemia, Uterine leiomyoma, Dysphagia, Hypoph... ORPHA:143
Satoyoshi Syndrome
Hypoplasia of the uterus, Mildly elevated creatine kinase, Malabsorption OMIM:600705
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Mitchell-Riley Syndrome
Intestinal malrotation, Jejunal atresia, Hyperbilirubinemia, Malabsorption, Anteriorly placed anu... OMIM:615710
Albers-Schönberg Osteopetrosis
Hypocalcemia, Optic atrophy ORPHA:53
Ring Chromosome 10 Syndrome
Hypocalcemia, Aganglionic megacolon ORPHA:1438
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Hypercalcemia, Zollinger-Ellison syndrome, Esophagitis... ORPHA:913
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Hypokalemia, Colonic stenosis, Elevated circulating creatinine concentrat... ORPHA:90038
Multiple Myeloma
Functional abnormality of the gastrointestinal tract, Elevated circulating creatinine concentrati... ORPHA:29073
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Cryptorchidism, Pigmentary retinopathy, Male hypogonadism, Optic a... ORPHA:90321
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Abnormality of the gastrointestinal tract, Decreased circulating apolipop... ORPHA:85450
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic... OMIM:300510
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Multiple Endocrine Neoplasia, Type I
Esophagitis, Zollinger-Ellison syndrome, Peptic ulcer, Hypercalcemia OMIM:131100
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Vascular Hyalinosis
Malabsorption, Chorioretinal scar, Hematochezia, Protein-losing enteropathy OMIM:277175
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abnormal circulating polysaccharide concentration, Hypoalbuminemia, Abnormal circul... ORPHA:103910
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Hyponatremia, Cryptorchidism, Hypocalcemia, Protein-losing enteropathy, Hypertrigly... OMIM:618183
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Attenuation of retinal blood vessels OMIM:614376
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyperkalemia, Hypokalemia, Hyponatremia ORPHA:682
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Optic atrophy OMIM:618476
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Hyperuricemia ORPHA:95409
Mastocytosis
Gastrointestinal hemorrhage, Hypercalcemia ORPHA:98292
Juvenile Polyposis Syndrome
Hematochezia, Hypokalemia, Colon cancer, Intussusception, Rectal prolapse, Duodenal adenocarcinom... OMIM:174900
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Gastroesophageal reflux, Dysphagia, Abnormal la... ORPHA:2198
Vipoma
Hypokalemia, Hypercalcemia, Neoplasm of the liver, Abnormal gastrointestinal motility, Benign gas... ORPHA:97282
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Pancolitis, Abnormal intestine morphology, Protein-losing enteropathy, Esophagitis, Du... OMIM:619079
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Hyponatremia, Increased circulating renin level, Cryptorchidism, Hyperkale... ORPHA:168558
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Hypocalcemic seizures, Cryptorchidism, Micropenis, Hypocalcemia, Hyperphosphatemia OMIM:241410
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
High palate, Hypercalcemia ORPHA:476126
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Hypoproteinemia, Increased stool alpha1-antitrypsin concentration, H... ORPHA:90362
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Morphological abnormality of the gastrointestinal tract, Hypercalcemia, Gastroesophageal reflux, ... ORPHA:369837
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Colonic atresia, Intestinal malrotation, Intestinal obstruction, Jejunal atresia, E... OMIM:243150
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Esophageal varix, Abnormal rectum morphology, Hyperbili... ORPHA:88673
Donnai-Barrow Syndrome
Intestinal malrotation, Retinal detachment, Retinal dystrophy, Bicornuate uterus, Iris coloboma OMIM:222448
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Hyponatremia, Increased circulating renin level, Cryptorchidism, Hyperkale... ORPHA:289548
Cystinosis
Retinopathy, Hypokalemia, Aminoaciduria, Malabsorption, Hypophosphatemia ORPHA:213
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Hypergonadotropic hypogonadism, Cystinuria OMIM:606407
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Hypoproteinemia, Cryptorchidism, Micropenis, Hypocalcemia, Vaginal atresia, Abnormal... ORPHA:1655
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Martinez-Frias Syndrome
Intestinal hypoplasia, Intestinal malrotation, Tracheoesophageal fistula, Jejunal atresia, Hyposp... OMIM:601346
Apparent Mineralocorticoid Excess
Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level OMIM:218030
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Chorioretinal coloboma, Meckel diverticulum OMIM:300864
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Gastroesophageal reflux, Elevated circulating creatinine concentra... OMIM:223900
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Zollinger-Ellison syndrome, Testicular neoplasm, Cervix cancer, Esophagitis, Pepti... ORPHA:276152
Caudal Duplication
Cryptorchidism, Intestinal duplication, Uterus didelphys, Abnormal penis morphology ORPHA:1756
Congenital Tufting Enteropathy
Abnormal small intestinal mucosa morphology, Anal atresia, Malabsorption, Villous atrophy, Optic ... ORPHA:92050
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Hyperlipidemia, Elevated circulating creatinine concentration OMIM:235400
Birk-Landau-Perez Syndrome
Hyperkalemia OMIM:617595
Monosomy 13Q34
Hematochezia, Infantile hypercalcemia ORPHA:96168
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Transient hypophosphatemia, Hypocalcemia, Papilledema, Hyperphosphatemia OMIM:127000
Hereditary Renal Hypouricemia
Increased blood urea nitrogen, Hypouricemia, Hyperuricosuria ORPHA:94088
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia OMIM:608885
Hypercholanemia, Familial 1
Fat malabsorption, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Eosinophilic Gastroenteritis
Hematochezia, Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein ... ORPHA:2070
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia, Abnormality of female external genitalia, Male pseudohermaphroditism,... ORPHA:90790
Fibrous Dysplasia Of Bone
Precocious puberty in females, Hypercalcemia, Testicular neoplasm, Ovarian cyst, Hypophosphatemia ORPHA:249
Ppoma
Intestinal carcinoid, Gastrointestinal hemorrhage, Hypercalcemia, Intestinal obstruction, Neoplas... ORPHA:97278
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Multiple Endocrine Neoplasia Type 2
Abnormal tongue morphology, Hypercalcemia, Aganglionic megacolon, Neoplasm of the liver, Ganglion... ORPHA:653
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Somatostatinoma
Gastrointestinal hemorrhage, Hypercalcemia, Intestinal obstruction, Steatorrhea, Neoplasm of the ... ORPHA:97283
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:171876
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Hypokalemia, Hypouricemia, Malabsorption, Hypophosphatemia OMIM:227810
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Neuroleptic Malignant Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kinase con... ORPHA:94093
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic ner... OMIM:120200
X-Linked Agammaglobulinemia
Hypocalcemia, Glossoptosis, Malabsorption ORPHA:47
Grfoma
Intestinal carcinoid, Gastrointestinal hemorrhage, Hypercalcemia, Zollinger-Ellison syndrome, Int... ORPHA:97261
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Fanconi Anemia, Complementation Group B
Micropenis, Tracheoesophageal fistula, Esophageal atresia, Optic disc hypoplasia, Hypergonadotrop... OMIM:300514
Glucagonoma
Gastrointestinal hemorrhage, Hypercalcemia, Abnormal gastrointestinal motility, Intestinal obstru... ORPHA:97280
Sanjad-Sakati Syndrome
Cryptorchidism, Hypocalcemia, Hypoplasia of penis, Hyperphosphatemia, Intestinal obstruction ORPHA:2323
Stromme Syndrome
Intestinal malrotation, Iris coloboma, Optic nerve hypoplasia, Jejunal atresia, Retinal vascular ... OMIM:243605
Gracile Bone Dysplasia
Micropenis, Hypocalcemia, Aniridia, Ankyloglossia OMIM:602361
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Hypoproteinemia, Cryptorchidism, Micropenis, Hypocalcemia, Protein-losing enteropath... OMIM:235255
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy OMIM:251850
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Protein-losing enteropathy, Villous atrophy OMIM:602579
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpho... ORPHA:168563
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Gastroesophageal reflux, Colonic diverticula, Ster... ORPHA:263665
Kennerknecht Syndrome
High palate, Agonadism, Hypoplasia of the uterus, Malrotation of colon OMIM:600908
Familial Glucocorticoid Deficiency
Hyponatremia, Testicular adrenal rest tumor, Cryptorchidism, Hyperkalemia, Azoospermia, Leydig ce... ORPHA:361
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Penoscrotal hypospadias, Sex reversal, Ambiguous genitalia, Exaggerated... OMIM:612965
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Aplasia/hypoplasia of the uterus, Bicornuate uterus ORPHA:2578
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Optic atrophy OMIM:259700
Liddle Syndrome 3
Hypokalemia OMIM:618126
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Cleft palate OMIM:619074
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Chordee, Micropenis, Iris coloboma, Anal atresia, Pigmentary retinopathy, Anteriorly p... OMIM:309801
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Azoospermia, Cryptorchidism, Micropenis, Hypoplasia of the uterus,... OMIM:614837
Timothy Syndrome
Hypocalcemia OMIM:601005
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Cleft palate OMIM:257910
Igg4-Related Retroperitoneal Fibrosis
Varicocele, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Elevate... ORPHA:49041
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Gastric ulcer, Abnormal circulating eicosanoid concentration, Decreased circulating 12-HETE, Esop... OMIM:618372
Fryns Syndrome
High palate, Ectopic anus, Cryptorchidism, Intestinal malrotation, Gastroesophageal reflux, Agang... ORPHA:2059
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Hypercalcemia, Hypochloremia, Increased circulating renin level, Increased serum pro... OMIM:601678
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Hypocalcemia ORPHA:746
Premature Ovarian Failure 7
Hypoplasia of the uterus, Premature ovarian insufficiency, Gonadal dysgenesis, Clitoral hypertrophy OMIM:612964
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Bicornuate uterus, Hypoplasia of the uterus, Cleft palate OMIM:601076
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Hypoalbuminemia, Protein-losing enteropathy OMIM:608104
Congenital Short Bowel Syndrome
Intestinal malrotation, Decreased intestinal transit time, Abnormal peristalsis, Intestinal atres... OMIM:615237
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Uterus didelphys, Hydrocolpos, Abnormality of the uterine cervix ORPHA:3411
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Intestinal atresia, Duodenal atresia ORPHA:3405
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Decreased plasma total carnitine, Elevated circulating creatinine concentration, Ele... OMIM:608836
Alg1-Cdg
Hypoalbuminemia, Abnormality of the gastrointestinal tract, Protein-losing enteropathy ORPHA:79327
Prune Belly Syndrome
Cryptorchidism, Intestinal malrotation, Anal atresia, Abnormality of the uterus, Congenital poste... ORPHA:2970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Increased circ... ORPHA:26793
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Microvillus inclusions, Villous atrophy OMIM:619445
Hypoplasminogenemia
Decreased level of plasminogen, Abnormality of the ovary, Abnormal fallopian tube morphology, Cer... ORPHA:722
Lumbar Syndrome
Ectopic anus, Hypoplastic labia majora, Cryptorchidism, Micropenis, Anal atresia, Bifid uterus, B... ORPHA:83628
Diethylstilbestrol Syndrome
Epididymal cyst, Cryptorchidism, Micropenis, Abnormality of the uterus, Testicular dysgenesis, Ab... ORPHA:1916
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Chylomicron Retention Disease
Retinopathy, Fat malabsorption, Hypocholesterolemia, Steatorrhea ORPHA:71
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Hypoplasia of the vagina, Ambiguous genitalia, female, Long penis, Decreased circula... OMIM:202010
Double Outlet Right Ventricle
Submucous cleft hard palate, Intestinal malrotation, Hypocalcemia, Cleft palate ORPHA:3426
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia, Optic atrophy ORPHA:428
Duodenal Atresia
Duodenal atresia OMIM:223400
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Oligomeganephronia
Optic disc coloboma, Elevated circulating creatinine concentration ORPHA:2260
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Liddle Syndrome
Hypokalemia ORPHA:526
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Fat malabsorption, Elevated circulating creatine kinase concentration, Pigm... ORPHA:96180
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Increased fecal bile acid, Steatorrhea OMIM:613291
Congenital Contractural Arachnodactyly
High palate, Intestinal malrotation, Tracheoesophageal fistula, Duodenal atresia ORPHA:115
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Chorioretinal coloboma, Dysphagia, Meckel diverticulum ORPHA:163961
Congenital Disorder Of Glycosylation, Type Id
High palate, Bifid uvula, Optic atrophy, Villous atrophy, Iris coloboma OMIM:601110
Microform Holoprosencephaly
Iris coloboma, Hypoplasia of penis, Cyclopia, Ambiguous genitalia, Cleft palate, Duodenal atresia ORPHA:280200
Colchicine Poisoning
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophosphatemia, Hypo... ORPHA:31824
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Rhombencephalosynapsis
Septo-optic dysplasia, Tracheoesophageal fistula, Aganglionic megacolon, Esophageal atresia, Anal... ORPHA:59315
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Hypogonadotropic hypogonadism, Hyponatremia, Precocious puberty in females... ORPHA:90794
Perrault Syndrome 4
Premature ovarian insufficiency, Bicornuate uterus, Hypoplasia of the uterus, Cleft palate, Hypop... OMIM:615300
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Cryptorchidism, Hypocalcemia, Submucous cleft hard palate, Retinal ... OMIM:192430
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Adenocarcinoma of the colon, Uterine leiomyoma, Adenomatous colonic polypos... ORPHA:220460
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Ileus, Abnormal blood ion concentration, Colitis, Hypocalcemia, Recurrent gastroenteritis, Malabs... ORPHA:37042
Cholera
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Achlorhydria, Hypocalcemia ORPHA:173
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Diarrhea 9
Villous atrophy OMIM:618168
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Gonadoblastoma, Abnormality of the uterus, Aniridia, ... OMIM:194072
Esophageal Atresia
Morphological abnormality of the gastrointestinal tract, Gastrointestinal carcinoma, Gastrointest... ORPHA:1199
Trichohepatoenteric Syndrome 2
Decreased serum iron, Colitis, Villous atrophy OMIM:614602
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Optic disc pallor, Hyperbilirubinemia, Optic atrophy OMIM:259720
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Infection-Related Hemolytic Uremic Syndrome
Intestinal perforation, Hyponatremia, Hyperkalemia, Hypocalcemia, Intussusception, Acute colitis,... ORPHA:544482
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia, Gastritis ORPHA:31826
Pierson Syndrome
Hypoproteinemia, Retinal hemorrhage, Hypopigmentation of the fundus, Retinal detachment, Remnants... OMIM:609049
Aapoaiv Amyloidosis
Abnormality of the gastrointestinal tract, Hyperlipidemia, Elevated circulating creatinine concen... ORPHA:439232
Mpi-Cdg
Hypoalbuminemia, Gastrointestinal hemorrhage, Protein-losing enteropathy ORPHA:79319
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Trigonocephaly 1
Long penis, Meckel diverticulum OMIM:190440
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Multiple Endocrine Neoplasia Type 1
Intestinal carcinoid, Hypercalcemia, Zollinger-Ellison syndrome, Gastroesophageal reflux, Hematem... ORPHA:652
Williams Syndrome
Hypogonadotropic hypogonadism, Hypercalcemia, Polycystic ovaries, Cryptorchidism, Retinal arterio... ORPHA:904
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Oeis Complex
Rectovaginal fistula, Cryptorchidism, Intestinal malrotation, Micropenis, Ambiguous genitalia, fe... OMIM:258040
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Uterus didelphys, Hypoplasia of penis ORPHA:2491
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Remnants of the hyaloid vascular system, Retinal fold,... ORPHA:91495
Perrault Syndrome 6
Hypoplasia of the uterus, Premature ovarian insufficiency, Streak ovary OMIM:617565
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema OMIM:146255
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy OMIM:613217
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Hypoplasia of... OMIM:614841
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, High, narrow palate, Cleft palate ORPHA:2714
Duplication Of Urethra
Penile hypospadias, Anal fistula, Chordee, Septate vagina, Rectourethral fistula, Uterus didelphy... ORPHA:237
Ehlers-Danlos Syndrome, Classic-Like
Hiatus hernia, Bicornuate uterus, Ambiguous genitalia, female OMIM:606408
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures ORPHA:289157
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Hypokalemia, Hyperamylasemia OMIM:604278
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Hypomagnesemia OMIM:618314
Vaginal Atresia
Vaginal hematocele, Uterus didelphys, Vaginal atresia, Transverse vaginal septum, Abnormality of ... ORPHA:65681
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Cryptorchidism, Micropenis, Gastroesophageal reflux, Retinal detachment, Optic disc pallor, Hypos... ORPHA:464311
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias, Anal atresia OMIM:617466
Apparent Mineralocorticoid Excess
Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level ORPHA:320
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Duodenal atresia OMIM:619608
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia, Precocious puberty ORPHA:437
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Elevated circulating creatinine concentration, Hyperuricemia, Atretic vas defere... OMIM:137920
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypercholesterolemia, Hyperkalemia, Esophageal varix, Hypertriglyceridemia, Steator... ORPHA:275761
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Rectovaginal fistula, Anal stenosis, Labial hypoplasia, Bicornuate uterus, Clitoral hypertrophy OMIM:300707
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Hypocalcemia, Aganglionic megacolon, Malabsorption ORPHA:175
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... ORPHA:79102
Pearson Syndrome
Hypokalemia, Hypocalcemia, Pigmentary retinopathy, Dysphagia, Median cleft lip and palate, Hypoph... ORPHA:699
Celiac Disease, Susceptibility To, 1
Celiac disease, Hypocalcemia, Steatorrhea OMIM:212750
Fanconi Renotubular Syndrome 1
Aminoaciduria, Hypokalemia, Hypophosphatemia OMIM:134600
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Premature Ovarian Failure 6
Hypoplasia of the uterus, Premature ovarian insufficiency, Streak ovary OMIM:612310
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft palate, Gastroesophageal reflux, Optic nerve hypoplasia, Subm... OMIM:301043
Osteopetrosis With Renal Tubular Acidosis
High palate, Abnormal retinal morphology, Hypocalcemia, Retinal atrophy, Elevated circulating cre... ORPHA:2785
Ovarian Fibrothecoma
Abnormality of the endometrium, Ovarian fibroma, Gonadal calcification, Abnormality of the ovary ORPHA:314478
Williams-Beuren Syndrome
Hypercalcemia, Micropenis, Retinal arteriolar tortuosity, Gastroesophageal reflux, Colonic divert... OMIM:194050
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Hypocalcemic seizures, Papilledema, Hyperphosphatemia, Hypocalcemic tetany... ORPHA:93325
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus, Cleft palate ORPHA:247768
Bile Acid Synthesis Defect, Congenital, 4
Fat malabsorption, Hyperbilirubinemia OMIM:214950
Bartter Syndrome, Type 3
Hypokalemia, Increased circulating renin level, Abnormal retinal vascular morphology, Abnormal ch... OMIM:607364
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma... OMIM:300048
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Premature pubarche, Polycystic ovaries, Testicular adrenal rest tumor, Ambiguous gen... ORPHA:90795
Premature Ovarian Failure 18
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cryptorchidism, Optic nerve hypoplasia, Hypospadias, Optic disc pallor, Microphallus, Attenuation... ORPHA:468631
Osteootohepatoenteric Syndrome
Hypokalemia, Increased serum bile acid concentration, Increased intestinal transit time, Ileoilea... OMIM:619377
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Macular dystrophy, Anal atresia, Labial hypoplasia, Retinal dystrophy, Bicornuate uterus, Clitora... ORPHA:140952
Juvenile Polyposis Of Infancy
Hematochezia, Gastrointestinal hemorrhage, Freckled genitalia, Intussusception, High, narrow pala... ORPHA:79076
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Submucous cleft hard palate, Tracheoesophageal fistula, Esophageal atresia, Duodenal atresia OMIM:619227
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Azoospermia, Micropenis, Non-... ORPHA:432
Duodenal Atresia
Duodenal atresia ORPHA:1203
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Papillary cystadenoma of the epididymis, Hyperuricemia, Pyloric stenosis, Bicornuate uterus, Hypo... ORPHA:93111
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Intestinal malrotation, Micropenis, Optic nerve hypoplasia, Decreased testicul... OMIM:619321
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
High palate, Cryptorchidism, Gastroesophageal reflux, Hypospadias, Coloboma, Furrowed tongue, Opt... OMIM:616975
Pseudotrisomy 13 Syndrome
Micropenis, Cryptorchidism, Anal atresia, Median cleft lip and palate, Cyclopia, Bicornuate uterus OMIM:264480
Fanconi Anemia, Complementation Group W
Duodenal atresia OMIM:617784
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hypokalemia OMIM:304900
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Pigmentary retinopathy, Aminoaciduria, Hypophospha... ORPHA:411629
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the u... ORPHA:3130
Scleroderma
Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, ... ORPHA:801
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Aplasia of the uterus, Hypokalemia, Precocious puberty in females, Micropenis, Ovarian cyst, Ambi... ORPHA:90793
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia, Hematemesis, Melena ORPHA:340
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Paroxysmal Nocturnal Hemoglobinuria
Decreased serum iron, Increased blood urea nitrogen, Odynophagia, Dysphagia, Reduced haptoglobin ... ORPHA:447
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Aplasia of the uterus, Female hypogonadism, Cryptorchidism, Microp... ORPHA:755
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Fat malabsorption, Conjugated hyperbilirubinemia OMIM:601847
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Retinal vasculitis, Chorioretinal scar, Cystoid ma... ORPHA:91500
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany, Hypergon... ORPHA:79444
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Iris coloboma, Retinal fold, Retinal nonattachment, Remnants of the hyaloid vascular system OMIM:221900
Rabson-Mendenhall Syndrome
Retinopathy, Hypokalemia, High palate, Increased C-peptide level, Enlarged ovaries, Long penis, M... ORPHA:769
Dyrk1A-Related Intellectual Disability Syndrome
Cryptorchidism, Micropenis, Gastroesophageal reflux, Optic disc pallor, Pyloric stenosis, Hypospa... ORPHA:464306
Microgastria-Limb Reduction Defects Association
Splenogonadal fusion, Microgastria, Cryptorchidism, Intestinal malrotation, Gastroesophageal refl... OMIM:156810
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany, Hypogonadism OMIM:612462
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Duodenal ulcer, Steatorrhea ORPHA:3217
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Duodenal atresia ORPHA:3004
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the colon, Abnormal vagina morph... ORPHA:3440
Systemic Sclerosis
Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, ... ORPHA:90291
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Fat malabsorption, Hyperbilirubinemia, Steatorrhea OMIM:607765
Focal Dermal Hypoplasia
Chorioretinal coloboma, Gastroesophageal reflux, Iris coloboma, Duodenal atresia ORPHA:2092
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Charge Syndrome
Hypogonadotropic hypogonadism, Anal stenosis, Cryptorchidism, Micropenis, Hypocalcemia, Tracheoes... OMIM:214800
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level, Ovarian neoplasm ORPHA:231632
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Uterus didelphys, Tracheoesophageal fistula, Bicor... ORPHA:958
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Cryptorchidism, Retinal arteriolar tortuosity, Gastroesophageal refl... ORPHA:567
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Bifid uvula, Cleft palate, Bifid uterus ORPHA:2736
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Fryns Syndrome
Cryptorchidism, Intestinal malrotation, Shawl scrotum, Aganglionic megacolon, Hypospadias, Esopha... OMIM:229850
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus OMIM:263210
Townes-Brocks Syndrome 1
Chorioretinal coloboma, Rectovaginal fistula, Anal stenosis, Cryptorchidism, Gastroesophageal ref... OMIM:107480
Gardner Syndrome
Hepatoblastoma, Duodenal polyposis, Gastrointestinal carcinoma, Colon cancer, Ampulla of Vater ca... ORPHA:79665
Harrod Syndrome
High palate, Malrotation of small bowel, Cryptorchidism, Aganglionic megacolon, High, narrow pala... OMIM:601095
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany, Hypogonadism OMIM:103580
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps,... ORPHA:329971
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Small scrotum, Septate vagina, Gastrointestinal dysmotility, Intes... OMIM:270400
Feingold Syndrome
Esophageal atresia, Duodenal atresia ORPHA:1305
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Protein-losing enteropathy OMIM:618154
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholesterol concentration OMIM:618885
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia OMIM:611590
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Cystinosis, Nephropathic
Generalized aminoaciduria, Retinopathy, Hypokalemia, Hyponatremia, Oral-pharyngeal dysphagia, Hyp... OMIM:219800
Marburg Hemorrhagic Fever
Hypokalemia, Abnormality of the gastrointestinal tract, Elevated circulating creatinine concentra... ORPHA:99826
Igg4-Related Thyroid Disease
Hypocalcemia, Sialadenitis, Dysphagia ORPHA:64744
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Gonadal dysgenesis, male, Gonadoblastoma... OMIM:233420
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Malabsorption, Villous atrophy OMIM:600955
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Micropenis, Hypocalcemia, Hypospadias, Hyperbilirubinemia, Cleft palate ORPHA:163979
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Craniofacioskeletal Syndrome
Cryptorchidism, Hypocalcemia, Hypospadias, Cleft palate OMIM:300712
Currarino Syndrome
Rectovaginal fistula, Anal fistula, Septate vagina, Anal stenosis, Anal atresia, Bicornuate uteru... OMIM:176450
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, True hermaphroditism, Sex reversal, Bicornuate uterus, Hypospadias, Clito... OMIM:400045
Sarcoidosis
Abnormality of the gastrointestinal tract, Hypercalcemia, Parotitis, Abnormal reproductive system... ORPHA:797
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Hiatus hernia, High palate, Abnormal duodenum morphology, Cryptorchidism, Intestinal malrotation,... OMIM:601776
Cholestasis, Progressive Familial Intrahepatic, 1
Fat malabsorption, Conjugated hyperbilirubinemia OMIM:211600
Mosaic Variegated Aneuploidy Syndrome
Colon cancer, Vaginal neoplasm, Ambiguous genitalia, Stomach cancer, Intestinal polyposis, Cleft ... ORPHA:1052
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Abetalipoproteinemia
Fat malabsorption, Decreased LDL cholesterol concentration, Abnormality of retinal pigmentation, ... ORPHA:14
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Genitourinary And/Or Brain Malformation Syndrome
Chordee, Cryptorchidism, Uterus didelphys, Micropenis, Jejunal atresia, Ileal atresia, Gonadal dy... OMIM:618820
Testicular Agenesis
Absent testis, Micropenis, Absent external genitalia, Abnormal vas deferens morphology, Urethrova... ORPHA:325124
Congenital Bile Acid Synthesis Defect Type 2
Fat malabsorption, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Hyperbi... ORPHA:79303
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Abnormal morphology of female internal ... ORPHA:99429
Fanconi Anemia, Complementation Group F
Cryptorchidism, Microphallus, Duodenal atresia OMIM:603467
East Syndrome
Hypokalemia, Hypomagnesemia, Increased circulating renin level ORPHA:199343
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany, Hypergon... ORPHA:79443
Fg Syndrome Type 1
High palate, Malrotation of colon, Cryptorchidism, Gastroesophageal reflux, Optic nerve hypoplasi... ORPHA:93932
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Hyperbilirubinemia ORPHA:79302
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hypocalcemia, Hyperphosphatemia ORPHA:466650
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
46,Xy Sex Reversal 11
Aplasia of the uterus, Abnormal internal genitalia, Vanishing testis, Urogenital sinus anomaly, G... OMIM:273250
Rajab Interstitial Lung Disease With Brain Calcifications 1
High palate, Small scrotum, Intestinal malrotation, Gastroesophageal reflux, Hypocalcemia, Esopha... OMIM:613658
Jacobsen Syndrome
Ectopic anus, Cryptorchidism, Intestinal malrotation, Abnormality of the anus, Pyloric stenosis, ... ORPHA:2308
Johanson-Blizzard Syndrome
Rectovaginal fistula, Septate vagina, Cryptorchidism, Micropenis, Hypocalcemia, Colonic diverticu... OMIM:243800
Apc-Related Attenuated Familial Adenomatous Polyposis
Gastrointestinal carcinoma, Duodenal polyposis, Colon cancer, Desmoid tumors, Adenomatous colonic... ORPHA:247806
Mungan Syndrome
Megaduodenum, Intestinal pseudo-obstruction, Barrett esophagus, Hypoperistalsis OMIM:611376
Cranioectodermal Dysplasia 1
Retinal dystrophy, Hypocalcemia, High, narrow palate, High palate OMIM:218330