Gene: Casr MGI:1351351

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Gene Summary

calcium-sensing receptor
CaR,  Gprc2a,  cation sensing receptor

IMPC Phenotype Summary

Not Significant
Not tested


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
preweaning lethality, complete penetrance Casrtm1b(KOMP)Mbp HOM   Early adult 0.00
enlarged uterus Casrtm1b(KOMP)Mbp HET Early adult 0.00
hyperactivity Casrtm1b(KOMP)Mbp HET Early adult 4.87×10-06
small superior vagus ganglion Casrtm1b(KOMP)Mbp HET Early adult 0.00
abnormal pancreas morphology Casrtm1b(KOMP)Mbp HET Early adult 0.00
edema Casrtm1b(KOMP)Mbp HET E15.5 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.

Gross Morphology Embryo E14.5-E15.5


10 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Casr mutations

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

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

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

Disease Similarity of
Matching phenotypes Source
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemic se... OMIM:618883
Pseudohypoparathyroidism, Type Ii
Pseudohypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo... OMIM:203330
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Decreased circulating parathyroid hormone level, Cataract, Hypoparathyroidism, Hype... OMIM:146200
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypermagnesemia, Hypocalciuria, Hypercalciuria, Hypercalcemia, Parathyroid a... OMIM:145980
Edema OMIM:614103
Hypomagnesemia 2, Renal
Hypocalciuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency OMIM:154020
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Hypercalcemia, Primary hyperparathyroidism, Parathormone-independ... OMIM:145981
Hypophosphatemic Rickets And Hyperparathyroidism
Parathyroid hyperplasia, Hypophosphatemia, Renal phosphate wasting, Rickets, Hypophosphatemic ric... OMIM:612089
Pseudohypoparathyroidism Type 2
Hypocalcemia, Pseudohypoparathyroidism, Hypocalcemic tetany, Elevated circulating parathyroid hor... ORPHA:94090
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Hypercalcemia ORPHA:55881
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Chondrocalcinosis, Parathyroid adenoma, Hypercalciuria, Hype... ORPHA:99879
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hypercalciuria, Congenital hypoparathyroidism, Hypomagnesemia, Parathyroid agenesis... ORPHA:2239
Angioedema, Hereditary, 6
Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619363
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia, Cerebral calcification OMIM:241519
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo... OMIM:603233
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Metacarpal periosteal thickening, Hypercalcemia, Elevated circulating pa... OMIM:617994
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Basal... OMIM:601198
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Episodic hypokalemia, Renal magnesium wasting, Hypomagnesemia, Nephrocal... ORPHA:564178
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Nephrocalcinosis, Hyperparathyroidism OMIM:239199
Familial Parathyroid Adenoma
Parathyroid hyperplasia, Parathyroid carcinoma, Renal insufficiency, Hypophosphatemia, Hyperphosp... ORPHA:99877
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Hypocalciuria, Hypercalcemia, Primary hyper... OMIM:600740
Hyperparathyroidism 4
Parathyroid carcinoma, Nephrolithiasis, Hypercalcemia, Primary hyperparathyroidism OMIM:617343
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Hypophosphatemic Rickets
Hyperostosis, Hypercalciuria, Joint stiffness, Hypercalcemia, Elevated circulating parathyroid ho... ORPHA:437
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypomagnesiuria, Hypocalciuria, Renal hypophosphatemia, Hypercalcemia, Reduced r... ORPHA:405
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hypercalcemia, Hematuria ORPHA:284400
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Hypocalcemic seizures, Hypophosphatemia, Subperiosteal bone resorption, Metaph... OMIM:264700
Parathyroid Carcinoma
Parathyroid carcinoma, Hypercalcemia, Hyperparathyroidism OMIM:608266
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercal... OMIM:300555
Hypocalcemic Vitamin D-Resistant Rickets
Scoliosis, Genu valgum, Hyperparathyroidism, Osteolysis, Hypocalcemia, Hypophosphatemia, Abnormal... ORPHA:93160
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Conjunctival whitish salt-like deposits, Nephrocalcinosis, Calcinosis, Vascular calcification, De... OMIM:211900
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Growth delay, Metaphyseal cupping, Bowing of the legs, Flared met... OMIM:619073
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hypercalcemia, Renal insufficiency, Hyperparathyroidism, Proteinuria ORPHA:2668
Bartter Syndrome, Type 3
Hypocalciuria, Renal potassium wasting, Hyperactive renin-angiotensin system, Polyuria, Hyperaldo... OMIM:607364
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Primary Parathyroid Hyperplasia
Parathyroid hyperplasia, Osteoporosis, Hypophosphatemia, Polydipsia, Dysphagia, Hypercalciuria, H... ORPHA:99878
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hyperphosphaturia, Polyuria, Aminoaciduria, Calcinosis, Hypercalciuria, Hyperca... OMIM:239200
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Postnatal growth retardation, Increased susceptibility to fractures, Elevated circu... ORPHA:289157
Hypophosphatemia, Nephrogenic diabetes insipidus, Rickets, Hypothyroidism, Gait disturbance, Amin... ORPHA:213
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Lymphatic Malformation 2
Lymphedema OMIM:611944
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Hypocalcemic seizures, Hypophosphatemia, Subperiosteal bone resorption, Metaph... OMIM:277440
Familial Isolated Hypoparathyroidism
Hypocalcemia, Abnormal calcium-phosphate regulating hormone level, Nephropathy, Cataract, Cerebra... ORPHA:2238
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Decreased circulating parathyroid hormone level, Hyperphosphaturia, Hypophospha... ORPHA:157215
Enamel-Renal Syndrome
Impaired renal concentrating ability, Abnormal calcium-phosphate regulating hormone level, Hypoca... ORPHA:1031
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia, Renal phosphate wasting, Hyperphosphaturia, Hypercalciuria, Nephrolithiasis OMIM:612286
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia OMIM:618314
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Metaphyseal irregularity, Hypercalciuria, Bowing of the legs, Chronic kidney d... OMIM:300554
Pseudohypoparathyroidism, Type Ic
Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Low urinary cyclic AMP response to... OMIM:612462
Dent Disease 1
Bulging epiphyses, Metaphyseal irregularity, Hypercalciuria, Bowing of the legs, Chronic kidney d... OMIM:300009
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Hyperaldosteronism, Increased circula... OMIM:612780
Helix Syndrome
Hyperparathyroidism, Hypermagnesemia, Hypocalciuria, Polyuria, Hypokalemia, Renal insufficiency, ... OMIM:617671
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Hemolytic anemia, Rickets, Reticulocytosis, Distal renal tubular acidosis, Isothenuria,... OMIM:611590
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Hypophosphatemia, Renal phosphate wasting, Metaphyseal irregularity, Sparse bo... OMIM:241530
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Growth delay, Distal renal tubular acidosis, Hypercalciuria, Dehydration, Hypokalemia, F... OMIM:602722
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Hypomagnesemia, Seizures, And Mental Retardation 1
Hypomagnesemia OMIM:616418
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Generalized aminoaciduria, Rickets, Proximal tubulopathy, Glycosuria, Hypercalc... OMIM:613388
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Adrenal hypoplasia, Hypercalciuria, Hypercalcemia, Hypospadias, Micropenis, Decreased response to... OMIM:614732
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Clubbing of fingers, Nephrocalcinosis, Metaphyseal chondrodysplasia, Hyperphosp... OMIM:156400
Multiple Endocrine Neoplasia Type 1
Coma, Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased ci... ORPHA:652
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia, Renal phosphate wasting, Nephrolithiasis, Hyperphosphaturia OMIM:612287
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Low urinary cyclic AMP response to... OMIM:103580
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Renal phosphate wasting, Metaphyseal irregularity, Flattening of the talar dome... OMIM:307800
Primary Hyperoxaluria Type 1
Dysuria, Hematuria, Recurrent urinary tract infections, Hyperoxaluria, Enuresis, Decreased glomer... ORPHA:93598
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Bowing of the legs, Vertebral hy... ORPHA:89936
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Aminoaciduria, Calcinosis, Cataract, Hydronephrosis OMIM:617913
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Cataract, Conjunctivitis, Chronic mucocutaneous candidiasis, A... ORPHA:36913
Malignant Hyperthermia, Susceptibility To, 2
Viral infection-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Anesthetic-induced rhabd... OMIM:154275
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Renal hypophosphatemia, Chronic kidney disease, H... ORPHA:94059
Hypophosphatasia, Infantile
Polyhydramnios, Platyspondyly, Elevated urine pyrophosphate, Craniosynostosis, Unossified vertebr... OMIM:241500
Angioedema, Hereditary, 5
Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619361
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Metaphyseal irregularity, Spar... OMIM:600785
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Hypophosphatemia, Metaphyseal irregularity, Sparse bone trabeculae, Difficulty... OMIM:600081
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Pseudohypoparathyroidism, Hypocalcemic tetany, Low urinary cyclic AMP response to P... ORPHA:94089
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Renal phosphate wasting, Rickets, Hypophosphatemic rickets, Osteomalacia, Short... OMIM:193100
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Iron deficiency anemia, Hyperphosphaturia, Rickets, Growth delay,... ORPHA:89937
Granulomatous Slack Skin
Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
Fibrous Dysplasia Of Bone
Scoliosis, Abnormality of tibia morphology, Elevated circulating growth hormone concentration, In... ORPHA:249
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Proportionate short stature, Intrauterine growth retardation, Slender long bone, Sm... OMIM:244460
Malignant Hyperthermia, Susceptibility To, 3
Viral infection-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Anesthetic-induced rhabd... OMIM:154276
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Anterior polar cataract, Renal insufficiency, Hematuria, Azotemia, Lenticonus, ... OMIM:104200
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Nocturia, Primary hyperaldosteronism, Pericardial effusion, Delaye... ORPHA:358
Multiple Endocrine Neoplasia Type 2
Parathyroid hyperplasia, Hyperlordosis, Paraganglioma of head and neck, Joint laxity, Elevated ur... ORPHA:653
Multiple Endocrine Neoplasia, Type Iib
Parathyroid hyperplasia, Scoliosis, Hyperlordosis, Joint laxity, Nodular goiter, Pheochromocytoma... OMIM:162300
Hypervitaminosis A, Susceptibility To
Alopecia totalis, Hypercalcemia OMIM:240150
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Generalized aminoaciduria, Rickets, Growth delay, Bowing of ... ORPHA:2088
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Hypocalcemic tetany, Low ... ORPHA:79444
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hurthle cell thyroid adenoma, Papillary renal cell carcinoma, Renal cortic... OMIM:145001
Arterial Calcification, Generalized, Of Infancy, 2
Coronary artery calcification, Hypophosphatemic rickets, Nephrocalcinosis OMIM:614473
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Renal calcium wasting, Recurrent urinary tract infections, Hypercalciuria, Hypermagnesiuria, Chro... OMIM:248190
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Mental Retardation, Autosomal Dominant 52
Cryptorchidism, Hyperactivity OMIM:617796
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Lacticaciduria, Rickets, Aminoaciduria, Glycosuria, Osteomalacia, Hypokalemia, ... OMIM:134600
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Brachyolmia Type 1, Toledo Type
Squared-off platyspondyly, Short neck, Broad tibial metaphyses, Childhood-onset short-trunk short... OMIM:271630
Tumoral Calcinosis, Normophosphatemic, Familial
Calcinosis, Conjunctivitis OMIM:610455
Dent Disease
Bulging epiphyses, Hematuria, Metaphyseal irregularity, Renal hypophosphatemia, Hypercalciuria, B... ORPHA:1652
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, ... ORPHA:97289
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Malignant Hyperthermia, Susceptibility To, 1
Rhabdomyolysis, Myoglobinuria, Elevated circulating creatine kinase concentration, Hyperkalemia, ... OMIM:145600
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Infantile hypercalcemia, Nephrocalcinosis, Nephrolithiasis OMIM:143880
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Joint laxity, Growth delay, Thrombocytopenia, Metaphyseal dysplasia, Failure to thr... OMIM:614727
Distal Renal Tubular Acidosis
Hypocitraturia, Hypercalciuria, Dehydration, Increased susceptibility to fractures, Low-molecular... ORPHA:18
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract ORPHA:254704
Galactosemia Ii
Cataract, Hypergalactosemia, Galactosuria OMIM:230200
Gitelman Syndrome
Hypocalciuria, Nocturia, Renal potassium wasting, Growth delay, Polyuria, Enuresis, Increased cir... OMIM:263800
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Central Diabetes Insipidus
Lethargy, Nocturia, Excessive daytime somnolence, Hyponatremia, Weight loss, Dehydration, Failure... ORPHA:178029
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Recurrent urinary tract infections, Hyperuricem... OMIM:248250
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Aminoaciduria, Glycosuria, Diabetes mellitus, Nephrocalcinosis, ... OMIM:616026
Wilson Disease
Osteoporosis, Coma, Dystonia, Joint hypermobility, Tremor, Hemolytic anemia, Hyperphosphaturia, D... OMIM:277900
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral den... OMIM:241520
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Subcutaneous calcification, Medullary nephrocalcinosis OMIM:617993
Parathyroid Carcinoma
Weight loss, Hypercalciuria, Renal hamartoma, Primary hyperparathyroidism, Elevated circulating p... ORPHA:143
East Syndrome
Enuresis, Hyperaldosteronism, Increased circulating renin level, Renal salt wasting, Renal sodium... ORPHA:199343
Bartter Syndrome, Type 1, Antenatal
Polyhydramnios, Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased urinary potassium, ... OMIM:601678
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets, Proximal tubulopathy, Polyuria, Ataxia, Dehydration, Type I diabetes melli... OMIM:560000
Glycerol Kinase Deficiency
Osteoporosis, Cryptorchidism, Adrenocortical hypoplasia, Coma, Loss of consciousness, Lethargy, G... OMIM:307030
Aniridia 3
Cataract OMIM:617142
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia, Bowing of the legs, Short stature OMIM:146350
Arterial calcification, Secondary hyperparathyroidism, Hyperphosphatemia, Stage 5 chronic kidney ... ORPHA:280062
Infantile Nephropathic Cystinosis
Hypophosphatemia, Low-molecular-weight proteinuria, Hyperphosphaturia, Rickets, Growth delay, Ami... ORPHA:411629
Angioedema, Hereditary, 8
Laryngeal edema, Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619367
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Fla... ORPHA:93284
2P21 Microdeletion Syndrome
Hypocalcemia, Hypogonadism, Nephrolithiasis, Cystinuria ORPHA:163693
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Hypocalcemic tetany, Low ... ORPHA:79443
Idiopathic Hypercalciuria
Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis ORPHA:2197
Maternal Uniparental Disomy Of Chromosome 9
Abnormal vertebral morphology, Elbow ankylosis, Congenital hypothyroidism, Failure to thrive, Kyp... ORPHA:96183
Zollinger-Ellison Syndrome
Parathyroid hyperplasia, Increased urinary cortisol level, Pituitary growth hormone cell adenoma,... ORPHA:913
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Adrenocortical Hypofunction, Chronic Primary Congenital
Hypernatriuria, Adrenal insufficiency OMIM:103230
Hyperparathyroidism-Jaw Tumor Syndrome
Osteoporosis, Hypophosphatemia, Infantile hypercalcemia, Parathyroid adenoma, Polydipsia, Dysphag... ORPHA:99880
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Flexion contracture, Foot dorsi... OMIM:615883
Immunodeficiency 8
Hyperactivity OMIM:615401
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Hyperuricemia, Renal salt wasting, Hyponatremia, Chronic kidney disease, Hyperechogenic... OMIM:613845
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Growth delay, Cortical thickening of long bone diaphyses, Hypocalcemic tetany, Post... ORPHA:93324
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Genu valgum, Hyperlordosis, Disproportionate short stature, Coronal cleft vertebrae, A... OMIM:618363
Oculoskeletodental Syndrome
Scoliosis, Cryptorchidism, Hypocalcemia, Renal agenesis, Mucopolysacchariduria, Hypothyroidism, T... OMIM:618440
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Increased circulating renin level, Medullary nephrocalcinosis, Hypercalci... OMIM:300971
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Abnormality of the urina... ORPHA:99886
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormality of circulating cortisol level, Decreased circulating renin level... ORPHA:320
Diastrophic Dysplasia
Costal cartilage calcification, Hypoplastic cervical vertebrae, Neonatal short-limb short stature... OMIM:222600
Familial Tumoral Calcinosis
Calcification of muscles, Skin rash, Nephrocalcinosis ORPHA:53715
Progressive Osseous Heteroplasia
Ectopic ossification in muscle tissue, Abnormality of the parathyroid gland, Osteoarthritis, Brac... ORPHA:2762
Mccune-Albright Syndrome
Scoliosis, Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Incr... ORPHA:562
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypercalciuria, Hypermagnesiuria, Hypomagnesemia, Eczema, Nephrocalcinosis, Hyperph... ORPHA:428
Craniosynostosis, Bowing of the long bones, Recurrent fractures, Failure to thrive in infancy, Hy... ORPHA:436
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Rickets, Growth delay, Aminoaciduria, Glycosuria, Bowing of the legs, Short st... OMIM:615605
Addison Disease
Generalized bone demineralization, Hyperuricemia, Weight loss, Delayed puberty, Hypercalcemia, De... ORPHA:85138
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Growth delay, Hyponatremia, Renal salt wasting, Incre... OMIM:610600
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Juvenile Nephropathic Cystinosis
Hypocalcemia, Elevated circulating creatinine concentration, Abnormal urine potassium concentrati... ORPHA:411634
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Celiac Disease, Susceptibility To, 1
Osteoporosis, Hypocalcemia, Iron deficiency anemia, Thrombocytosis, Rickets, Thyroiditis, Weight ... OMIM:212750
Renal Tubular Acidosis, Distal, 1
Renal tubular acidosis, Hypocalcemia, Nephrocalcinosis OMIM:179800
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Cryptorchidism, Dystonia, Lethargy, Postural tremor, Decreased serum insulin-like growth factor 1... ORPHA:352
Progressive Pseudorheumatoid Dysplasia
Metaphyseal widening, Camptodactyly of finger, Osteoporosis, Platyspondyly, Enlarged interphalang... OMIM:208230
Nephropathy, Deafness, And Hyperparathyroidism
Parathyroid hyperplasia, Renal insufficiency, Hyperparathyroidism, Nephropathy OMIM:256120
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Weight loss, Hypercalciuria, Renal sodium wasting, Dehydration, Chro... ORPHA:3337
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy, Decreased circulating T4 level, Growth delay, Reduced TSH response to thyrotrophin-rele... OMIM:618573
Vitamin B12-Responsive Methylmalonic Acidemia
Coma, Lethargy, Dehydration, Failure to thrive, Anemia, Renal insufficiency, Hyperammonemia ORPHA:28
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemia, Abnormal renal resorption, Hypocalcemic tetany, Hyperaldosteronism, Hepatic calcifi... ORPHA:73224
Cystinosis, Nephropathic
Male hypogonadism, Failure to thrive in infancy, Delayed puberty, Dehydration, Renal insufficienc... OMIM:219800
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypomagnesemia, Hypermagnesiuria ORPHA:34527
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita OMIM:208155
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Arthrogryposis multiplex congenita, Small for gestational age, Failure to thrive, Kyphoscoliosis,... OMIM:212540
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hyperaldosteronism, Hypercalciuria, Decreased circulating renin level, Hypokalemia, Adr... OMIM:613677
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Abnormality of the medullary cavity of the long bones, Transient hypophosphatemia, ... OMIM:127000
Paget Disease Of Bone 6
Nephrocalcinosis, Osteoarthritis, Left ventricular hypertrophy OMIM:616833
Linear Verrucous Nevus Syndrome
Scoliosis, Hypophosphatemia, Toe syndactyly, Reduced bone mineral density, Short metacarpal, Abno... ORPHA:2611
Hemochromatosis Type 2
Osteoporosis, Increased circulating ferritin concentration, Lethargy, Abnormality of iron homeost... ORPHA:79230
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Adrenogenital syndrome, Congenital adrenal hyperplasia, Renal salt wasting OMIM:201710
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Glycosuria, Hypokal... OMIM:227810
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Nephrogenic diabetes insipidus, Giant cell hepatitis, Conjuga... OMIM:613404
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Aminoaciduria, Renal insufficiency, Ne... OMIM:260000
Maffucci Syndrome
Neoplasm of the parathyroid gland, Scoliosis, Osteolysis, Goiter, Ovarian neoplasm, Dysphagia, Gr... ORPHA:163634
Renal Tubular Acidosis Iii
Nephrocalcinosis, Hypokalemia, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis OMIM:267200
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Craniosynostosis, Increased blood urea nitrogen, Polyphagia, Enlarged ... ORPHA:251004
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Abnormality of the tarsal bones, Hyperph... ORPHA:352540
Rhizomelic Chondrodysplasia Punctata, Type 1
Epiphyseal stippling, Coronal cleft vertebrae, Calcific stippling of infantile cartilaginous skel... OMIM:215100
Sanjad-Sakati Syndrome
Hypocalcemia, Corneal opacity, Congenital hypoparathyroidism, Hypoplasia of penis, Myopathy, Asti... ORPHA:2323
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Platyspondyly, Toe syndactyly, Dysphagia, Cone-shaped epiphyses of the distal pha... OMIM:618958
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Postnatal growt... ORPHA:556030
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Refractory Celiac Disease
Osteoporosis, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Iron deficiency anemia, Microcytic... ORPHA:398063
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Beaking of vertebral bodies, Hypoplastic ilia, Joint stiffness, Kyphoscoliosis, St... OMIM:616583
Scoliosis, Genu valgum, Platyspondyly, Metaphyseal enchondromatosis, Anisospondyly, Generalized j... ORPHA:85198
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Hypothyroidism, Nephropathy, Cataract, Renal insufficiency, Hypoparathyroidism ORPHA:1563
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Renal insufficiency, Hydrops fetalis, Thrombocytopenia, Hypercalcemia, Ascites, A... ORPHA:2123
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Primary Hyperoxaluria Type 2
Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep... ORPHA:93599
Propionic Acidemia
Osteoporosis, Coma, Dystonia, Lethargy, Hyperglycinemia, Neutropenia, Hyperglycinuria, Pancytopen... OMIM:606054
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Congenital hypoparathyroidism, Micropenis, Hyperphosphatemia, Hypocalcemic seizures... OMIM:241410
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Hypergonadotropic hypogonadism, Cystinuria, Facial palsy, Nephrolithiasis, Decrease... OMIM:606407
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Bartter Syndrome, Type 2, Antenatal
Polyhydramnios, Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased urinary potassium, ... OMIM:241200
Methylcobalamin Deficiency Type Cble
Osteoporosis, Scoliosis, Lethargy, Excessive daytime somnolence, Neutropenia, Postnatal growth re... ORPHA:2169
Corticosterone Methyloxidase Type I Deficiency
Growth delay, Hyponatremia, Renal salt wasting, Increased circulating renin level, Dehydration, D... OMIM:203400
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Scoliosis, Hypocalcemia, Joint laxity, Oligohydramnios, Rickets, Growth delay, Pan... OMIM:613658
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia OMIM:612526
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Flexion contracture, Central adrenal insufficiency, Adrenal insufficiency, Delayed puberty, Kypho... OMIM:612079
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Hip dysplasia, Dislocated radial head, Limited elbow extension, Scoliosis, Platyspondyly, Joint l... ORPHA:93359
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Scoliosis, Hyperlordosis, Metaphyseal chondrodysplasia, Disproportionate short sta... ORPHA:2501
Infantile Myofibromatosis
Osteolysis, Bone cyst, Limitation of joint mobility, Hypercalcemia, Abnormality of the metaphysis... ORPHA:2591
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Maternal diabetes, Hyperinsulinemic hypoglycemia, Hyperinsu... ORPHA:324575
Hereditary Fructose Intolerance
Hypophosphatemia, Coma, Hypermagnesemia, Lethargy, Growth delay, Hyperuricemia, Chronic kidney di... ORPHA:469
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Broad thumb, Hypermobility of interphalangeal joints, Atlantoaxial abnormality, Short stature, Ky... ORPHA:3433
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Flynn-Aird Syndrome
Osteoporosis, Increased bone density with cystic changes, Ataxia, Increased bone mineral density,... OMIM:136300
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Diffuse pancreatic islet h... ORPHA:276575
Polyhydramnios, Chronic Idiopathic
Polyhydramnios OMIM:263610
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Elevated urinary norepinephrine, Hypercalcemia, Proteinuria OMIM:171420
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Dehydration, Intrauterine growth ... OMIM:601410
Chilblain Lupus 2
Edema OMIM:614415
Scleroderma, Familial Progressive
Calcinosis OMIM:181750
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Proximal Renal Tubular Acidosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, H... ORPHA:47159
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Mildly elevated creatine kinase, Toe walking, Elbow flexion contr... ORPHA:536516
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Scoliosis, Squared iliac bones, Renal phosphate wasting, Hypophosphatemia, Polyhydramnios, Dispro... OMIM:258480
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Genu valgum, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoacidur... OMIM:618913
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Renal hypophosphatemia, Increased bone mineral density, Rickets of the lower li... ORPHA:289176
Oculocerebrodental Syndrome
Hypocalcemia, Developmental cataract, Nephrocalcinosis, Hypercalcemia ORPHA:557003
Hypercholanemia, Familial 1
Rickets, Increased serum bile acid concentration, Failure to thrive OMIM:607748
Cataract OMIM:190330
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Lethargy, Diffuse pancreatic ... ORPHA:276580
Idiopathic Congenital Hypothyroidism
Lethargy, Delayed proximal femoral epiphyseal ossification, Abnormality of epiphysis morphology, ... ORPHA:95717
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Hyponatremia, Hyperaldosteronism, Renal salt wasting, Dehyd... OMIM:264350
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Coma, Dystonia, Lethargy, Neutropenia, Thrombocytopenia, Dehydration, Splenomegaly, Failure to th... ORPHA:79312
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Abnormality of masseter muscle, Exercise-induced rhabdomyolysis, Elevated cr... ORPHA:423
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Rocker bottom foot, Arthrogryposis multiplex congenita, Camptodactyly, Second metat... OMIM:214150
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Non-Functioning Paraganglioma
Elevated urinary dopamine, Tremor, Hematuria, Elevated urinary norepinephrine, Elevated urinary e... ORPHA:94080
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Scoliosis, Lethargy, Flexion contracture, Failure to thrive, Ethylmalonic aciduria OMIM:201470
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Pearson Syndrome
Hypocalcemia, Hydrops fetalis, Proteinuria, Reticulocytosis, Neutropenia, Pancreatic fibrosis, Po... ORPHA:699
Glucose-Galactose Malabsorption
Hematuria, Hypernatremia, Hypercalcemia, Renal insufficiency, Nephrolithiasis ORPHA:35710
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Arthrogryposis multiplex congenita, Nephrogenic diabetes insipidus, Giant cell hepatitis, Conjuga... OMIM:208085
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Nathalie Syndrome
Cataract ORPHA:2663
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper... ORPHA:140286
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Reduced bone mineral density, Short stature, Splenomegaly, Failure to thrive ORPHA:172
Adrenal Hypoplasia, Congenital
Cryptorchidism, Adrenal hypoplasia, Decreased circulating cortisol level, Primary adrenal insuffi... OMIM:300200
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Cryptorchidism, Epiphyseal stippling, Short metatarsal, Short phalanx of finger, Eleva... OMIM:101800
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Hyperinsulinism Due To Hnf4A Deficiency
Coma, Tremor, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypophosphatemic rickets... ORPHA:263455
Warburg Micro Syndrome 1
Osteoporosis, Joint hypermobility, Cryptorchidism, Overlapping toe, Failure to thrive, Kyphoscoli... OMIM:600118
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Richieri Costa-Da Silva Syndrome
Inability to walk, Genu valgum, Generalized bone demineralization, Beaking of vertebral bodies, D... ORPHA:3101
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Delayed proximal femoral epiphyseal ossification, Le... ORPHA:95716
Classic Galactosemia
Osteoporosis, Cryptorchidism, Dystonia, Lethargy, Postural tremor, Decreased serum insulin-like g... ORPHA:79239
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic islet hyperplasia, Hypogl... ORPHA:276556
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy, Flexion contracture, Kyphoscoliosis OMIM:617105
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Increased circulating renin level, Hyperaldosteronism OMIM:619406
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Moderately short stature, Dislocated radial head, Camptodactyly of finger, Platyspondyly, Short p... OMIM:612350
Peroxisome Biogenesis Disorder 10B
Neurogenic bladder, Cataract, Nephrocalcinosis OMIM:617370
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Dislocated radial head, Scoliosis, Platyspondyly, Decreased bo... OMIM:614856
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Elevated circulating creatine kinase concentration, Joint hypermobility, Osteopenia, Kyphoscoliosis ORPHA:300179
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
4-5 toe syndactyly, Hand tremor, Thoracic kyphosis, 2-3 toe syndactyly, Lumbar kyphosis in infanc... ORPHA:3041
Rhabdoid Tumor
Renal neoplasm, Hematuria, Weight loss, Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Proportionate short stature, Hyponatremia, Increased circulating renin level, Chol... ORPHA:171876
Combined Malonic And Methylmalonic Acidemia
Dystonia, Dicarboxylic acidemia, Dehydration, Methylmalonic aciduria, Methylmalonic acidemia, Dic... ORPHA:289504
Roussy-Lévy Syndrome
Scoliosis, Genu valgum, Urinary bladder sphincter dysfunction, Gait ataxia, Postural tremor, Diff... ORPHA:3115
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Renal salt wasting, Congenital hypothyroidism, Hyperkalemia, Precocious puberty OMIM:614736
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Premature pubarche, Lumbar scoliosis, Irregular vertebral endplates, Bowing of the... OMIM:612847
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Increased level of methylsuccinic acid in urine, Intrauterine growth retardat... ORPHA:26792
Coma, Tremor, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Neoplasm of ... ORPHA:97279
Brachyolmia Type 1, Hobaek Type
Scoliosis, Squared-off platyspondyly, Short iliac bones, Short neck, Flattened proximal radial ep... OMIM:271530
Lowe Oculocerebrorenal Syndrome
Scoliosis, Cryptorchidism, Joint hypermobility, Hypercholesterolemia, Pathologic fracture, Renal ... OMIM:309000
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Dysphagia, Toe walking, Knee flexion contracture, Kyphoscoliosis ORPHA:496689
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97282
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Difficulty walking, Hypothyroidism, Growth delay, Central ... ORPHA:1667
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Ankle flexion contracture, Kyphoscoliosis OMIM:616668
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Hip subluxation, Joint laxity, Metaphyseal irregularity, Small for gestational age, De... ORPHA:93360
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Osteoporosis, Short metatarsal, Pseudohypoparathyroidism, Short stature, Short metacarpal, Short ... OMIM:612463
Dermatosparaxis Ehlers-Danlos Syndrome
Hip dysplasia, Osteoporosis, Scoliosis, Rickets, Joint hyperflexibility, Severe short stature, Av... ORPHA:1901
Tyrosinemia Type 1
Generalized aminoaciduria, Rickets of the lower limbs, Splenomegaly ORPHA:882
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Spastic Paraplegia 20, Autosomal Recessive
Hyperextensible hand joints, Difficulty walking, Camptodactyly, Flexion contracture, Clinodactyly... OMIM:275900
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hyperlordosis, Cryptorchidism, Increased vertebral height, Gait ataxia, Truncal ataxia, Kinetic t... OMIM:616817
Ck Syndrome
Slender build, Joint hypermobility, Lumbar hyperlordosis, Long toe, Hyperactivity, Kyphoscoliosis... ORPHA:251383
Bile Acid Conjugation Defect 1
Rickets, Conjugated hyperbilirubinemia OMIM:619232
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Nephrocalcinosis, Male hypogonadism, Decreased circulating parathyroid hormone level, Iridocyclit... OMIM:240300
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pustule, Acute kidney injury, Superficial dermal perivascular inflammatory infiltrate, Exercise-i... ORPHA:284426
Autosomal Dominant Kenny-Caffey Syndrome
Abnormal circulating follicle-stimulating hormone concentration, Growth delay, Cortical thickenin... ORPHA:93325
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Abnormal urine potassium concentration, Delayed puberty, Dehydration, Decreased c... ORPHA:289548
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Generalized edema OMIM:618773
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Abnormal urine potassium concentration, Delayed puberty, Dehydration, Decreased c... ORPHA:168558
Acute Adrenal Insufficiency
Androgen insufficiency, Renal insufficiency, Adrenal hypoplasia, Primary adrenal insufficiency, D... ORPHA:95409
Oculocerebrorenal Syndrome Of Lowe
Scoliosis, Cryptorchidism, Hypercholesterolemia, Hematuria, Joint swelling, Hypercalciuria, Delay... ORPHA:534
Lymphatic Malformation 3
Lymphedema OMIM:613480
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:611783
Albers-Schönberg Osteopetrosis
Genu valgum, Hypocalcemia, Abnormality of epiphysis morphology, Recurrent fractures, Generalized ... ORPHA:53
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Hyperphosphatemia, Hyperuricemia, Hydroxyprolinemia OMIM:239000
Neuroleptic Malignant Syndrome
Hypocalcemia, Acute kidney injury, Hypernatremia, Hyponatremia, Elevated circulating creatine kin... ORPHA:94093
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Inability to walk, Flexion contracture, Kyphoscoliosis OMIM:617977
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
46,Xy Sex Reversal 3
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Exaggerated rugosity of the ... OMIM:612965
Chronic Hiccup
Abnormal eating behavior, Dehydration, Weight loss ORPHA:396
Infantile Bartter Syndrome With Sensorineural Deafness
Impaired renal concentrating ability, Acute kidney injury, Hyponatremia, Hyperactive renin-angiot... ORPHA:89938
Vitamin B12-Unresponsive Methylmalonic Acidemia
Coma, Lethargy, Ataxia, Thrombocytopenia, Dehydration, Leukopenia, Anemia, Renal insufficiency, H... ORPHA:27
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Coma, Lethargy, Hyperglycinemia, Thrombocytopenia, Dehydration, Tubulointerstitial nephritis, Met... OMIM:251000
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Short stature, Kyphoscoliosis, Abnormality of the meta... ORPHA:93304
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Hyperphosphaturia, Hypophosphatemic rickets, Corneal opacity, Precocious puberty OMIM:163200
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal calcium-phosphate regulating hormone level, Abnormal penis morphology, Neoplasm ... ORPHA:457059
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Scoliosis, Short neck, Joint laxity, Proportionate short stature, Hypothyroidism, Down-sloping sh... ORPHA:391408
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Scoliosis, Joint hypermobility, Upper limb undergrowth, Craniosynostosis, Congenital megaureter, ... ORPHA:369837
Methylmalonic Aciduria, Cbla Type
Coma, Hyperammonemia, Lethargy, Tremor, Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytope... OMIM:251100
Congenital Muscular Dystrophy Without Intellectual Disability
Difficulty walking, Mildly elevated creatine kinase, Toe walking, Achilles tendon contracture, Ky... ORPHA:370980
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Increased circulating ... ORPHA:90791
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Coma, Tremor, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Drowsiness, Increased bo... ORPHA:276608
Hyperferritinemia With Or Without Cataract
Increased circulating ferritin concentration, Pulverulent cataract, Nuclear cataract OMIM:600886
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Growth delay, Uraciluria, Failure to thrive, Hyperactivity OMIM:274270
Verloove Vanhorick-Brubakk Syndrome
Cryptorchidism, Tarsal synostosis, Finger syndactyly, Abnormal form of the vertebral bodies, Abno... ORPHA:3429
Reticular Dysgenesis
Abnormality of neutrophils, Aplasia/Hypoplasia of the thymus, Weight loss, Dehydration, Failure t... ORPHA:33355
Leukodystrophy, Hypomyelinating, 17
Inability to walk, Flexion contracture, Short stature, Kyphoscoliosis OMIM:618006
Hypophosphatasia, Adult
Rickets, Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to frac... OMIM:146300
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating renin, Hypercalciuria... ORPHA:251274
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Unilateral renal agenesis, Renal dysplasia, Psoriasiform dermatitis, Vesicoureteral... ORPHA:2237
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, Calcinosis, Hyperlipi... OMIM:248370
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Distal renal tubular acidosis, Unilateral renal dysplasia, Renal dysplasia, Basal gang... OMIM:146255
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Eczematoid dermatitis, Thyroi... ORPHA:37042
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Lethargy, Splenomegaly, Hypogonadotropic hypogonadi... OMIM:602390
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Lethargy, Abnormal posturing, Growth delay, Neutropenia, Thrombocytopenia, Methyl... OMIM:614857
Nemaline Myopathy 4
Difficulty walking, Flexion contracture, Waddling gait, Kyphoscoliosis OMIM:609285
Glaucoma 3, Primary Congenital, E
Edema OMIM:617272
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Sim1-Related Prader-Willi-Like Syndrome
Scoliosis, Cryptorchidism, Central hypothyroidism, Xerostomia, Type II diabetes mellitus, Decreas... ORPHA:398079
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Male hypogonadism, Increased circulating gonadotropin... ORPHA:168563
Leukodystrophy, Hypomyelinating, 3
Progressive flexion contractures, Arthrogryposis multiplex congenita, Failure to thrive, Kyphosco... OMIM:260600
Acrodysostosis With Multiple Hormone Resistance
Scoliosis, Cryptorchidism, Hypocalcemia, Short metatarsal, Short phalanx of finger, Mild short st... ORPHA:280651
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Lethargy, Hyperglycinemia, Hyperamylasemia, Aminoaciduria, Adrenal insufficiency,... OMIM:619386
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Macroorchidism, Resting tremor, Obesity, Short stature, Hyperactivity, Kyphoscoliosis, Sh... ORPHA:3077
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Extraadrenal pheochromocytoma, Elevated urinary norepinephr... ORPHA:276621
White Sponge Nevus 2
Edema OMIM:615785
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Scapular winging, Hypophosphaturia, Hypocalciuria ORPHA:73223
X-Linked Agammaglobulinemia
Hypocalcemia, Skin rash, Recurrent pneumonia, Chronic otitis media, Conjunctivitis, Hepatitis, Re... ORPHA:47
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Carpal bone hypoplasia, Severe carpal ossification dela... OMIM:184252
Citrullinemia Type Ii
Coma, Decreased body mass index, Hypercholesterolemia, Hypoalbuminemia, Hyperactivity, Cerebral e... ORPHA:247585
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Syndactyly, Duplication of metatarsal bon... OMIM:600384
Multiple Myeloma
Acute kidney injury, Pleural effusion, Elevated circulating creatinine concentration, Nephropathy... ORPHA:29073
Symptomatic Form Of Hemochromatosis Type 1
Osteoporosis, Increased circulating ferritin concentration, Lethargy, Abnormality of iron homeost... ORPHA:465508
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Thoracic platyspondyly, Tibial ... ORPHA:457395
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Hyperphosphaturia, Aminoaciduria, Glycosuria, Renal Fa... OMIM:220110
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Proximal tubulopathy, Increased serum prostaglandin E2, Increas... OMIM:241150
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Hyponatremia, Hyperaldosteronism, Increased circulating ren... OMIM:177735
Hereditary Central Diabetes Insipidus
Lethargy, Growth delay, Weight loss, Diabetes insipidus, Polydipsia ORPHA:30925
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Joint laxity, Kyphoscoliosis OMIM:236660
Tuberous Sclerosis Complex
Parathyroid hyperplasia, Pancreatic endocrine tumor, Hyperactivity, Pheochromocytoma, Renal angio... ORPHA:805
Ring Chromosome 10 Syndrome
Hypocalcemia, Renal hypoplasia/aplasia ORPHA:1438
Bacterial Toxic-Shock Syndrome
Peritonitis, Hypocalcemia, Renal insufficiency, Skin rash, Elevated circulating creatinine concen... ORPHA:36234
Neu-Laxova Syndrome
Osteoporosis, Scoliosis, Polyhydramnios, Arthrogryposis multiplex congenita, Rickets, Flexion con... ORPHA:2671
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Lethargy, Goiter, Delayed proximal femoral epiphyseal ossification, Increas... ORPHA:90674
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Renal sodium wa... ORPHA:556037
Combined Malonic And Methylmalonic Aciduria
Dehydration, Methylmalonic aciduria, Failure to thrive OMIM:614265
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Methylmalonic Aciduria, Cblb Type
Coma, Hyperammonemia, Lethargy, Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Deh... OMIM:251110
Juvenile Dermatomyositis
Skin rash, Pericarditis, Calcinosis, Elevated circulating C-reactive protein concentration, Eleva... ORPHA:93672
Arthrogryposis, Distal, Type 2A
Scoliosis, Cryptorchidism, Polyhydramnios, Restricted neck movement due to contractures, Camptoda... OMIM:193700
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Cryptorchidism, Large iliac wing, Hydroureter, Abnormality of the metacarpal bones, Abnormality o... ORPHA:2636
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Craniosynostosis, Femur fracture, Sandwich appearance of vertebral bodies, Osteopet... OMIM:259700
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Elevated circulating creatine kinase concentration, Flexion contracture, Kyphoscoliosis OMIM:607855
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Allan-Herndon-Dudley Syndrome
Polyhydramnios, Cryptorchidism, Decreased body mass index, Dystonia, Flexion contracture, Failure... ORPHA:59
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Diabetes insipidus, Nephrocalcinosis, Decreased muscle mass, Facial hypotonia ORPHA:500533
Occipital Horn Syndrome
Scoliosis, Large iliac wing, Recurrent urinary tract infections, Abnormality of fibula morphology... ORPHA:198
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Coma, Lethargy, Growth delay, Hyperlysinemia, Hyperammonemia, Hyperlysinuria OMIM:238750
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Dehydration, Elevated circulating acylcarnitine concentration, Dicarb... ORPHA:79159
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Glycine Encephalopathy
Hyperglycinuria, Lethargy, Hyperglycinemia, Hyperactivity OMIM:605899
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Severe short stature, Hemivertebrae, Vertebral fusion, Disproportionate short-trunk sh... OMIM:277300
Cerebrooculofacioskeletal Syndrome 4
Dislocated radial head, Rocker bottom foot, Camptodactyly of finger, Arthrogryposis multiplex con... OMIM:610758
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Scoliosis, Aplasia of the 1st metacarpal, Gait ataxia, Tremor, Kyphosis, 2-3 toe syndactyly, Part... ORPHA:476126
Hyperekplexia 4
Camptodactyly, Flexion contracture, Distal arthrogryposis, Kyphoscoliosis, Adducted thumb OMIM:618011
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Diabetes insipidus, Nephrocalcinosis, Facial hypotonia OMIM:611087
Intellectual Developmental Disorder, X-Linked 19
Scoliosis, Small for gestational age, Kyphoscoliosis OMIM:300844
Hyperchlorhidrosis, Isolated
Hyponatremia, Dehydration, Failure to thrive, Hypernatremic dehydration, Hyperkalemia OMIM:143860
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Oliguria, Hypokal... ORPHA:31824
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Skeletal muscle steatosis, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, ... ORPHA:436271
Hypochromic microcytic anemia, Increased circulating gonadotropin level, Elevated circulating gro... ORPHA:97283
Primary Hyperoxaluria
Calcium oxalate nephrolithiasis, Hematuria, Elevated urine glycolate, Hyperoxaluria, Calcinosis c... ORPHA:416
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Cli... OMIM:612964
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Scoliosis, Irregularity of vertebral bodies, Abnormal hip joint morpho... ORPHA:1159
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy, Megaloblastic anemia, Gait disturbance, Hypomethioninemia, Failure to thrive, Homocysti... OMIM:236270
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Stillbirth, Growth delay, Hyperbilirubinemia, Extramedullary hematopoiesis, Osteope... OMIM:259720
Iridocyclitis, Encephalitis, Abnormal skeletal muscle morphology, Cerebral calcification, Calcifi... ORPHA:1560
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Delayed puberty, Hyperlipidemia ORPHA:90154
13Q12.3 Microdeletion Syndrome
Hip dysplasia, Cryptorchidism, Camptodactyly, Intrauterine growth retardation, Failure to thrive,... ORPHA:412035
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Cataract, Autophagic vacuoles, Elevated circula... OMIM:608810
Carpenter Syndrome
Genu valgum, Cryptorchidism, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Craniosynos... ORPHA:65759
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Hyperbilirubinemia, Hypocholesterolemia, Failure to thrive, Splenomegaly OMIM:607765
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium, Hyperaldosteronism, Decrease... OMIM:613090
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Kyphoscoliosis OMIM:619099
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Contractures of the joints of the lower limbs, Lethargy OMIM:613710
Timothy Syndrome
Hypocalcemia, Hypothyroidism, Pneumonia OMIM:601005
Severe Canavan Disease
Inability to walk, Lethargy, Joint stiffness, Oral-pharyngeal dysphagia ORPHA:314911
Intestinal carcinoid, Increased circulating gonadotropin level, Elevated circulating growth hormo... ORPHA:97278
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Increased radioactive iodine uptake, Lethargy, Delayed proximal femor... ORPHA:90673
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Brachydactyly, Short stature, Kyphoscoliosis OMIM:122900
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Polyhydramnios, Hypothyroidism, Flexion contracture, Neutropenia, Intrauterine growth retardation... OMIM:618005
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Ataxia, Decreased serum testosterone concentration, Splenomegaly, Failure to th... OMIM:201100
Brown-Vialetto-Van Laere Syndrome 2
Scoliosis, Split hand, Dysphagia, Ataxia, Kyphoscoliosis, Organic aciduria OMIM:614707
Magel2-Related Prader-Willi-Like Syndrome
Scoliosis, Cryptorchidism, Central hypothyroidism, Xerostomia, Type II diabetes mellitus, Decreas... ORPHA:398069
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Bardet-Biedl Syndrome 18