Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
cyclin M4
Synonyms:
Acdp4,  5430430O18Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Cnnm4 mutations

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

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

The table below shows human diseases associated to Cnnm4 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Cnnm4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization OMIM:614832
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Renal calcium wasting, Amelogenesis imperfecta, Recurrent urinary tract infections, Hypercalciuri... OMIM:248190
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Dental Ankylosis
Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenesis ORPHA:1077
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental color, Abnorm... ORPHA:1028
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia, Alaninuria OMIM:202900
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth OMIM:614564
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Gastrointestinal inflammation, Carious teeth, Atrophic scars, Oral mucosal bli... ORPHA:79405
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Hypoalbu... OMIM:618349
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Enamel-Renal Syndrome
Impaired renal concentrating ability, Delayed eruption of teeth, Abnormal dental enamel morpholog... ORPHA:1031
Hypomagnesemia, Seizures, And Mental Retardation 1
Hypomagnesemia OMIM:616418
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypomagnesiuria, Hypocalciuria, Chondrocalcinosis, Renal hypophosphatemia, Hyper... ORPHA:405
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypercholesterolemia, Hypertension OMIM:608320
Hypomagnesemia 2, Renal
Chondrocalcinosis, Hypocalciuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia, Renal ins... OMIM:154020
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology ORPHA:1653
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Episodic hypokalemia, Renal magnesium wasting, Hypomagnesemia, Nephrocal... ORPHA:564178
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Dysphagia, Hypodontia OMIM:616029
Stimmler Syndrome
Abnormal dental enamel morphology, Microdontia, Aminoaciduria ORPHA:3199
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Smooth philtrum, Thin up... OMIM:129540
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormal dental enamel morphology ORPHA:69087
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Localized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Abnormality of dental color, Dental enamel pits, Atypical scarring of skin, Sc... ORPHA:251393
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hypertension OMIM:605635
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia OMIM:618314
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification OMIM:125420
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Hypok... OMIM:601198
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology, Malar flattening ORPHA:139474
Laryngoonychocutaneous Syndrome
Amelogenesis imperfecta OMIM:245660
Epidermolysis Bullosa, Junctional, Herlitz Type
Enamel hypoplasia, Atrophic scars, Carious teeth OMIM:226700
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Hypoplasia of teeth, Hyperphosphaturia, Hypophosphatemic rickets, Medullary nephro... OMIM:613312
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Atrophic scars, Scarring alopecia of scalp, Oral mucosal blisters ORPHA:79402
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Shovel-shaped maxillary central incisors, Increased overbite, Dental crowding OMIM:600907
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Carious teeth, Thick vermilion border ORPHA:363523
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Recurrent urinary tract infections, Polyuria, H... OMIM:248250
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Pulp calcification, Taurodontia, Calcinosis, Nephrocalcinosis, Decreased renal... OMIM:211900
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture OMIM:203550
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Enamel hypoplasia, Carious teeth, Increased connective tissue, Scarring alopecia of scalp, Urethr... OMIM:226670
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
East Syndrome
Enuresis, Renal salt wasting, Increased circulating renin level, Renal sodium wasting, Hypokalemi... ORPHA:199343
Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome
Enamel hypoplasia ORPHA:91133
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormal mandible condylar process morphology, Macrodontia, Abno... ORPHA:477781
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Trichoodontoonychial Dysplasia With Bone Deficiency
Enamel hypoplasia, Anodontia OMIM:275450
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion OMIM:613576
Usher Syndrome Type 2
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:231178
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Carious teeth, Calvarial osteosclerosis OMIM:244460
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, High palate, Mandibular prognathia, Malar flattening OMIM:600991
Colchicine Poisoning
Cardiogenic shock, Hypocalcemia, Hypophosphatemia, Arrhythmia, Hypovolemia, Hypotension, Hyponatr... ORPHA:31824
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Thick lower lip vermilion, Hypoplasia of the primary teeth, U-Shaped upper lip... OMIM:234250
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Hyperkalemia, Abnormality of the dentition ORPHA:757
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Sjogren-Larsson Syndrome
Enamel hypoplasia OMIM:270200
48,Xyyy Syndrome
Enamel hypoplasia, Long philtrum, Abnormal renal morphology, Irregularly spaced teeth, High palat... ORPHA:99329
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Hyperuricemia, Renal salt wasting, Hyponatremia, Chronic kidney disease, Hyperechogenic... OMIM:613845
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia OMIM:261560
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Xfe Progeroid Syndrome
Enamel hypoplasia, Renal insufficiency, Absence of subcutaneous fat, Proteinuria OMIM:610965
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Oculocerebrodental Syndrome
Enamel hypoplasia, Hypocalcemia, Oligodontia, Abnormality of the dentition, Hypercalcemia, Microd... ORPHA:557003
Liddle Syndrome 3
Hypokalemia, Hypertension OMIM:618126
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Glossitis, Hematochezia, Xerostomia, Vomiting, Hypokalemia, Diarrhea, Hypomagnesemia OMIM:175500
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal dental enamel morphology, Nephropathy, Hypocalcemia ORPHA:2238
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Hypoplasia of teeth, Abnormality of dental morphology ORPHA:248
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental color, Horseshoe kidney, Hyperphosphaturia, Abnormality of dental morpholog... OMIM:163200
Gitelman Syndrome
Hypocalciuria, Chondrocalcinosis, Nocturia, Renal potassium wasting, Constipation, Polyuria, Enur... OMIM:263800
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Renal salt wasting, Increased circula... OMIM:612780
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypomagnesemia, Hypermagnesiuria ORPHA:34527
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Chondrocalcinosis, Hypocalciuria, Multiple lipomas, Hypercalcemia, Parathormone-... OMIM:145981
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth ORPHA:2643
Bartter Syndrome, Type 1, Antenatal
Hyposthenuria, Chondrocalcinosis, Renal potassium wasting, Constipation, Polyuria, Renal juxtaglo... OMIM:601678
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta
Amelogenesis imperfecta, Delayed eruption of teeth, Hypodontia OMIM:615905
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth, Hypocalcemic tetany, Low urinary cyclic AMP respons... OMIM:612462
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, ... ORPHA:839
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta ORPHA:71267
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Lichtenstein Syndrome
Enamel hypoplasia, Carious teeth, Downturned corners of mouth OMIM:246550
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Periapical tooth abscess, Agenesis of incisor, Enamel hypominera... ORPHA:3352
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Crossed fused renal ectopia, Abnormality of the philt... ORPHA:2919
Mulibrey Nanism
Enamel hypoplasia, Dental crowding, Hypoplastic frontal sinuses, Hypodontia, Microglossia, Nephro... OMIM:253250
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth ORPHA:2222
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Oligodontia, Short mandibular rami, Prominent frontal sinuses, Antegonial notc... OMIM:170390
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Micrognathia OMIM:251190
Trichodental Dysplasia
Conical tooth, Odontodysplasia, Hypodontia OMIM:601453
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Mandibular prognathia, Microdontia, Widely spaced teeth, Hy... OMIM:601216
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth, Hypocalcemia, Hypocalcemic tetany, Low urinary cycl... ORPHA:94089
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth, Hypocalcemic tetany, Low urinary cyclic AMP respons... OMIM:103580
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Carious teeth, Microretrognathia, Pierre-Robin sequence, Tooth agenesis,... OMIM:618363
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro... ORPHA:18
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Widely spaced teeth, Conical tooth OMIM:613573
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Persistence of primary teeth, Hypodontia OMIM:125350
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypocalciuria, Chondrocalcinosis, Multiple lipomas, Hypercalce... OMIM:600740
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Amelogenesis imperfecta, Dagger-shaped pulp calcifications,... OMIM:204690
Hypophosphatasia, Childhood
Carious teeth, Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Premature loss of pri... OMIM:241510
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Widely spaced teeth OMIM:616108
Kohlschutter-Tonz Syndrome-Like
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Delayed eruption of teeth, Drooling, A... OMIM:619229
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Hypercalciuria, Hypercalcemia, Nephrolithiasis OMIM:145980
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Mucopolysaccharidosis, Type Iva
Carious teeth, Chondroitin sulfate excretion in urine, Mandibular prognathia, Wide mouth, Grayish... OMIM:253000
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Enamel hypoplasia, Arthrogryposis multiplex congenita, Atrophic scars, Intractable diarrhea, Elev... OMIM:226730
Neuroleptic Malignant Syndrome
Hyperkalemia, Hypocalcemia, Arrhythmia, Hypotension, Hypernatremia, Hypertensive crisis, Hyperuri... ORPHA:94093
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Short philtrum, Drooling, Flexion contracture, Recurrent urinary tract infecti... OMIM:619293
Bartter Syndrome, Type 2, Antenatal
Hyposthenuria, Chondrocalcinosis, Renal potassium wasting, Constipation, Polyuria, Renal juxtaglo... OMIM:241200
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosis ORPHA:3019
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Enamel hypoplasia, Carious teeth, Scarring alopecia of scalp OMIM:612843
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypophosphatemic rickets, Congestive heart failure, Hypertension OMIM:614473
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Usher Syndrome
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:886
Mucopolysaccharidosis Type 4
Carious teeth, Abnormal dental enamel morphology, Mucopolysacchariduria, Wide mouth, Grayish enam... ORPHA:582
Otodental Dysplasia
Long philtrum, Pulp calcification, Taurodontia, Hypodontia OMIM:166750
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Autosomal Dominant Hypocalcemia
Hypocalcemia, Arrhythmia, Hypotension, Congestive heart failure, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany, Hypercalciuria, Hypermagnesiuria, Abnormal ren... ORPHA:73224
Helix Syndrome
Hypermagnesemia, Hypocalciuria, Polyuria, Xerostomia, Hypokalemia, Renal insufficiency, Nephrolit... OMIM:617671
Mucopolysaccharidosis, Type Ivb
Carious teeth, Mandibular prognathia, Wide mouth, Grayish enamel, Inguinal hernia, Widely spaced ... OMIM:253010
Acrootoocular Syndrome
Delayed eruption of teeth, Dental malocclusion, Grayish enamel, Anodontia, Supernumerary tooth, H... ORPHA:2980
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Camptodactyly of finger, Carious teeth, Oral mucosal blisters, Hypodontia OMIM:226650
Infantile Bartter Syndrome With Sensorineural Deafness
Impaired renal concentrating ability, Acute kidney injury, Hyponatremia, Increased urinary potass... ORPHA:89938
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Abnormality of the mandible, Cleft palate OMIM:217150
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Fibromatosis, Gingival, With Distinctive Facies
Gingival fibromatosis, Everted lower lip vermilion, Thick vermilion border, Persistence of primar... OMIM:228560
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Short philtrum, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Cockayne Syndrome Type 2
Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the primary teeth, Scarring, ... ORPHA:90322
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Chronic diarrhea, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Everted lower... ORPHA:2025
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Agenesis of permanent teeth, Abnormality of dental morphology, Everted... ORPHA:2228
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth, Hypophosphatemia, Generalized aminoaciduria, Hypoca... OMIM:264700
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating creatine kinase concentration, Amelogenesis imperfecta, Malar flattening OMIM:614727
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Enamel hypoplasia, Oligodontia, Dental crowding, Pierre-Robin sequence, Thick vermilion border, H... OMIM:619184
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, Oligodontia, Scarring alopecia of scalp, Persistence of primary teeth, Microdo... OMIM:618727
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral-pharyngeal dysphagia, Oral ... ORPHA:199306
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Eruption failure, Alveo... OMIM:273050
Pycnodysostosis
Delayed eruption of primary teeth, Carious teeth, Narrow palate, Absent frontal sinuses, Persiste... OMIM:265800
Gastrointestinal Defects And Immunodeficiency Syndrome
Enamel hypoplasia, Omphalocele, Hematochezia OMIM:243150
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth OMIM:161000
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hematochezia, Polyuria, Hyponatremia, Renal dysplasia, Hypertriglyceridemia, Hypoal... OMIM:618183
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Delayed eruption of teeth, Carious teeth, Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Renal phosphate wasting, Abnormality of the dentition, Hypophosphatemic rickets OMIM:193100
Pyle Disease
Delayed eruption of teeth, Carious teeth, Mandibular prognathia, Hypoplastic frontal sinuses, Abs... OMIM:265900
Ameloonychohypohidrotic Syndrome
Abnormal dental enamel morphology, Marked delay in eruption of permanent teeth OMIM:104570
Raine Syndrome
Enamel hypoplasia, Hypophosphatemia, Arthrogryposis multiplex congenita, Narrow mouth, Hydrourete... OMIM:259775
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Inflammation of the large intestine, Proximal tubulopathy, Chronic diarrhea, U... OMIM:614576
Ohdo Syndrome
Long philtrum, Thin vermilion border, Hypoplasia of teeth, Narrow mouth, Smooth philtrum, Microgn... OMIM:249620
Cockayne Syndrome Type 1
Enamel hypoplasia, Delayed eruption of primary teeth, Increased blood urea nitrogen, Hypoplasia o... ORPHA:90321
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth, Hypocalcemia, Hypophosphatemia, Generalized aminoac... ORPHA:289157
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Taurodontia, Everted lower lip vermilion, Abnormality of the d... ORPHA:1515
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Enamel hypoplasia, Narrow mouth, Atrophic scars, Constipation, Flexion contracture, Dysphagia, Co... OMIM:226600
Thyrotoxic Periodic Paralysis
Palpitations, Mildly elevated creatine kinase, Transient hypophosphatemia, Ventricular fibrillati... ORPHA:79102
Qazi-Markouizos Syndrome
Drooling, Hypoplasia of teeth, Open mouth, Broad philtrum, Chronic constipation, High, narrow palate ORPHA:3010
Liddle Syndrome 2
Decreased circulating renin level, Hypertension, Hypokalemia OMIM:618114
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Mandibular prognathia, Hypodontia, Bifid uvula, Dens in dente, Macrodontia OMIM:263540
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Hematuria, Urinary bladder inflammation, Renal dysplasia, Hydronephrosis, Uret... ORPHA:79403
48,Xxyy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:10
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Mandibular prognathia... ORPHA:1133
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Focal segmental glomerulosclerosis, Chondrocalcinosis, Nocturia, R... ORPHA:358
Seckel Syndrome 1
Enamel hypoplasia, Dental crowding, High palate, Selective tooth agenesis, Cleft palate, Hypospad... OMIM:210600
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Umbilical hernia, Perineal hypospadias, Inguinal hernia, Hypoca... ORPHA:3134
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Enamel hypoplasia, Oligodontia, Hypodontia OMIM:607626
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Rubinstein-Taybi Syndrome 2
Carious teeth, Narrow palate, Retrognathia, Increased overbite, High palate, Dental malocclusion,... OMIM:613684
Corneodermatoosseous Syndrome
Hypomature dental enamel, Abnormality of the dentition OMIM:122440
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Shagreen patch, Hypodontia, Hypoplasia of penis, Hypospadias, Nephroli... ORPHA:1816
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Oligodontia, Abnormal dental enamel morphology, Scarring alopecia of scalp, Hypodontia ORPHA:59303
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Abnormality of the dentition, Abnormal palate morphology, Multicystic kidney dyspl... ORPHA:3270
Porphyria, Congenital Erythropoietic
Abnormality of the mouth, Atypical scarring of skin, Pink urine, Corneal scarring, Joint contract... OMIM:263700
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Hypocalcemia, Everted lower lip vermilion, Anodontia, Hypodontia, Tubulointers... OMIM:218330
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia OMIM:241519
Teeth, Supernumerary
Mesiodens, Supernumerary tooth OMIM:187100
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Umbilica... OMIM:300555
Immunodeficiency 33
Conical tooth, Delayed eruption of teeth, Hypodontia OMIM:300636
Eem Syndrome
Carious teeth, Abnormality of dental morphology, Selective tooth agenesis, Microdontia, Widely sp... ORPHA:1897
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Hypertension OMIM:605115
Pseudohypoaldosteronism, Type Iia
Hyperkalemia, Hypertension OMIM:145260
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Membranous nephropathy, Abnormal blood ion concentratio... ORPHA:37042
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Pearson Syndrome
Hypophosphatemia, Median cleft lip and palate, Lacticaciduria, Hypocalcemia, Exocrine pancreatic ... ORPHA:699
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614495
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypomagnesemia, Hyperphenylalaninemia, Abnormal circulating neopterin concentration, Abnormal cir... ORPHA:1578
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet... OMIM:257850
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Renal hypophosphatemia, Chronic kidney disease, H... ORPHA:94059
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta, Abnormality of the dentition OMIM:610967
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Tooth abscess, Hyperphosphaturia ORPHA:89937
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Enamel hypomineralization, R... OMIM:307800
Odontochondrodysplasia
Dentinogenesis imperfecta, Retrognathia, Delayed eruption of teeth ORPHA:166272
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Agenesis of permanent teeth, Tongue nodules, Microretrognathia,... OMIM:311200
Adrenocortical Hypofunction, Chronic Primary Congenital
Hypernatriuria OMIM:103230
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Hypoplasia of teeth, Multiple bladder diverticula, Cleft palate, Microdontia, Widely spaced teeth... ORPHA:2728
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Amelogenesis imperfecta, Exocrine pancreatic insufficiency, Hypodontia, Hernia... OMIM:617052
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Hepatoerythropoietic Porphyria
Red-brown urine, Purple urine, Scarring, Scarring alopecia of scalp, Abnormal circulating porphyr... ORPHA:95159
Mandibuloacral Dysplasia
Hypercholesterolemia, Abnormal tongue morphology, Increased intraabdominal fat, Hypoplasia of tee... ORPHA:2457
Sanjad-Sakati Syndrome
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Hypocalcemia, Abnormalit... ORPHA:2323
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Carious teeth OMIM:604922
Immunodeficiency 9
Amelogenesis imperfecta, Recurrent aphthous stomatitis, Stomatitis OMIM:612782
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Abnormal palate morphology ORPHA:3236
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Constipation, Nausea, Hyperuricemia, Chronic kidney disease, D... ORPHA:469
Hypercalcemia, Infantile, 1
Thick lower lip vermilion, Polyuria, Hypercalciuria, Vomiting, Infantile hypercalcemia, Nephrocal... OMIM:143880
Self-Improving Dystrophic Epidermolysis Bullosa
Atrophic scars, Carious teeth, Oral mucosal blisters ORPHA:79411
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Oculodentodigital Dysplasia
Neurogenic bladder, Enamel hypoplasia, Carious teeth, Taurodontia, Joint contracture of the 5th f... OMIM:164200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hypoplasia of teeth, Narrow mouth, Dental crowding, Flexion contracture, Hyperlipidemia, Loss of ... OMIM:608612
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Hypocalcemia, Stomatitis, Steatorrhea, Diarrhea, Vomiting, Recurrent aphthous ... OMIM:212750
Congenital Erythropoietic Porphyria
Red-brown urine, Purple urine, Increased connective tissue, Scarring, Increased erythrocyte proto... ORPHA:79277
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Increased blood urea nitrogen, Enlarged kidney, Membranoprolif... ORPHA:251004
Osteogenesis Imperfecta
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Delayed eruption o... ORPHA:666
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Delayed eruption of teeth, Hypocalcemia, Hypocalcemic tetany, Low urinary cycl... ORPHA:79444
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Abnormal dental enamel morphology, Mandibular prognathia, Malar flattening ORPHA:2180
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Chondrocalcinosis, Hypercalciuria, Hypercalcemia, Infantile ... ORPHA:99879
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Supernumerary tooth, Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone ORPHA:3145
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Kilquist Syndrome
Hypoplasia of teeth, Mandibular prognathia, Gastroesophageal reflux, Wide mouth, Xerostomia, Chro... OMIM:619080
Nail-Patella Syndrome
Enamel hypoplasia, Nephritis, Hematuria, Contracture of the distal interphalangeal joint of the f... ORPHA:2614
Craniolenticulosutural Dysplasia
Long philtrum, Thin vermilion border, Carious teeth, Delayed eruption of teeth, Hypoplasia of tee... ORPHA:50814
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Thick ... ORPHA:2107
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Umbilical hernia, Perineal hypospadias, Inguinal hernia, Microp... OMIM:312830
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Nephrocalcinosis, Diarrhea, Chronic atrophic gastritis OMIM:240300
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Proximal tubulopathy, Nausea, Increased serum prostaglandin E2,... OMIM:241150
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hypoplasia of teeth, Dental crowding, Increased adipose tissue around the neck, Flexion contractu... OMIM:248370
Hypophosphatemic Rickets
Hypophosphatemia, Renal phosphate wasting, Hyperphosphaturia, Hypocalciuria, Tooth abscess, Peria... ORPHA:437
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia, Renal phosphate wasting, Hyperphosphaturia, Hypercalciuria, Nephrolithiasis OMIM:612286
Dyskeratosis Congenita, Autosomal Recessive 6
Carious teeth OMIM:616353
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Carious teeth, Abnormal dental enamel morphology, Abnormality of dental morphology, Bilateral cle... ORPHA:3253
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Vomiting, Nephrocalcinosis OMIM:239199
Cleidocranial Dysplasia
Enamel hypoplasia, Delayed eruption of primary teeth, Narrow palate, Absent frontal sinuses, Hypo... OMIM:119600
Acrofacial Dysostosis, Catania Type
Hypospadias, Carious teeth OMIM:101805
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental morphology, H... ORPHA:1458
48,Xxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:96263
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal dental enamel morphology, Mandibular prognathia, Hypodontia, Cleft palate, Abnormality o... ORPHA:2916
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Long philtrum, Thin vermilion border, Localized hypoplasia of dental enamel, Conical incisor, Hyp... ORPHA:73223
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Long philtrum, Oligodontia, Short philtrum, Hypoplasia of teeth, Narrow mouth, Downturned corners... ORPHA:391408
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614496
Temtamy Syndrome
Long philtrum, Micrognathia, Hypoplasia of teeth, Dental crowding OMIM:218340
Lowe Oculocerebrorenal Syndrome
Enamel hypoplasia, Camptodactyly of finger, Hypercholesterolemia, Elevated amniotic fluid alpha-f... OMIM:309000
Dysosteosclerosis
Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:1782
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Renal salt wasting, Vomiting, Hyperkalemia OMIM:203400
49,Xxxxy Syndrome
Open bite, Delayed eruption of teeth, Abnormal dental enamel morphology, Carious teeth, Taurodont... ORPHA:96264
Severe Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Hydroureter, Recurrent urinary tract infections, Duplicated collecting system,... ORPHA:79404
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Odontochondrodysplasia 1
Nephronophthisis, Delayed eruption of teeth, Long philtrum, Polycystic kidney dysplasia, Dentinog... OMIM:184260
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Re... OMIM:613388
Congenital Disorder Of Glycosylation, Type Iim
Enamel hypoplasia, Short philtrum, Open mouth, Mandibular prognathia, Gastroesophageal reflux, Th... OMIM:300896
Odontomicronychial Dysplasia
Premature loss of primary teeth, Abnormality of the dentition, Premature eruption of permanent teeth ORPHA:1811
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Delayed eruption of teeth, Hypocalcemia, Hypocalcemic tetany, Low urinary cycl... ORPHA:79443
Short Syndrome
Abnormal dental enamel morphology, Abnormality of the zygomatic bone, Lipodystrophy, Abnormality ... ORPHA:3163
Oculotrichodysplasia
Carious teeth, Microdontia of primary teeth, Agenesis of permanent teeth, Widely spaced primary t... OMIM:257960
Dysostosis, Stanescu Type
Macroglossia, Carious teeth, Abnormal dental enamel morphology, Abnormal palate morphology, Abnor... ORPHA:1798
Idiopathic Hypercalciuria
Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis ORPHA:2197
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Periodontitis, Moderate albuminuria, Premature loss of teeth, Hydronephrosis, Dentinogenesis impe... OMIM:619269
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enamel hypoplasia, Bifid uvula, Wide mouth, Abnormality of the dentition OMIM:615802
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia, Renal phosphate wasting, Nephrolithiasis, Hyperphosphaturia OMIM:612287
Pde4D Haploinsufficiency Syndrome
Long philtrum, Abnormal dental enamel morphology, Short philtrum, Mandibular prognathia, Thin upp... ORPHA:439822
Cleidocranial Dysplasia
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Mandibula... ORPHA:1452
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyponatremia, Renal salt wasting, Diarrhea, Vomiting, Hyperkalemia OMIM:264350
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hypour... ORPHA:411634
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium, Renal salt wasting, Decrease... OMIM:613090
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Koolen-De Vries Syndrome
Abnormal dental enamel morphology, Narrow palate, Everted lower lip vermilion, High, narrow palat... ORPHA:96169
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Hypospadias, Retrognathia, Microdontia OMIM:210720
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Atypical scarring of skin OMIM:229200
Chronic Mucocutaneous Candidiasis
Abnormal dental enamel morphology, Abnormality of the mouth, Hematuria, Recurrent urinary tract i... ORPHA:1334
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Oculocerebrorenal Syndrome Of Lowe
Open bite, Hypercholesterolemia, Carious teeth, Abnormal dental enamel morphology, Hematuria, Nar... ORPHA:534
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Atrophic scars, Scarring, Oral mucosal blisters, Hypoalbuminemia, Smooth tongue ORPHA:79396
Bartter Syndrome, Type 3
Hypocalciuria, Renal potassium wasting, Polyuria, Increased urinary potassium, Renal salt wasting... OMIM:607364
Dent Disease 1
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, P... OMIM:300009
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Distal renal tubular acidosis, Hypercalciuria, Hypokalemia, Vomiting, Nephrocalcinosis OMIM:602722
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta, Abnormality of the dentition OMIM:610968
Hypophosphatasia, Adult
Premature loss of primary teeth, Carious teeth, Premature loss of permanent teeth, Chondrocalcinosis OMIM:146300
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Carious teeth, Hypocalcemic tetany, Calvarial osteosclerosis, Hypocalcemic seizures ORPHA:93324
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight prote... ORPHA:3337
Cockayne Syndrome
Abnormal renal physiology, Neurogenic bladder, Enamel hypoplasia, Carious teeth, Delayed eruption... ORPHA:191
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Renal salt wasting OMIM:614736
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium,... OMIM:602522
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Constipation, Abnormality of the den... OMIM:241500
Cole-Carpenter Syndrome 2
Microretrognathia, High palate, Dentinogenesis imperfecta OMIM:616294
Arthrogryposis And Ectodermal Dysplasia
Oligodontia, Abnormal dental enamel morphology, Arthrogryposis multiplex congenita, Atypical scar... OMIM:601701
Cenani-Lenz Syndrome
Abnormal dental enamel morphology, Crossed fused renal ectopia, Short philtrum, Hypodontia, Renal... ORPHA:3258
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Hypoplasia of teeth,... ORPHA:2909
Codas Syndrome
Enamel hypoplasia, Delayed eruption of teeth, Gastroesophageal reflux, Omphalocele OMIM:600373
Trichothiodystrophy
Enamel hypoplasia, Carious teeth, High, narrow palate, Absence of subcutaneous fat, Umbilical her... ORPHA:33364
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level, Renal salt wasting OMIM:610600
X-Linked Hypophosphatemia
Hypophosphatemia, Renal phosphate wasting, Cellulitis, Hypocalciuria, Abnormal dentin morphology,... ORPHA:89936
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia ORPHA:2050
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Nephrocalcinosis, Tooth malposition, Hyperphosphaturia, Hypercalciuria, Hyperca... OMIM:156400
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Micrognathia OMIM:259420
Cranioectodermal Dysplasia 3
Nephronophthisis, Hypoplasia of teeth, Everted lower lip vermilion, Stage 5 chronic kidney diseas... OMIM:614099
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Renal hypoplasia, Dysphagia,... ORPHA:2363
Cockayne Syndrome Type 3
Neurogenic bladder, Enamel hypoplasia, Carious teeth, Hydroureter, Renal hypoplasia, Flexion cont... ORPHA:90324
Blepharo-Cheilo-Odontic Syndrome
Conical tooth, Carious teeth, Bilateral cleft lip and palate ORPHA:1997
Osteogenesis Imperfecta, Type X
Inguinal hernia, Dentinogenesis imperfecta, Micrognathia, Malar flattening, Nephrolithiasis OMIM:613848
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Abnormality of the dentition, Taurodo... ORPHA:3220
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Abnormal dental enamel morphology, Inguinal hernia, Microdontia, Hypoplasia of the zygomatic bone... ORPHA:1812
Orofaciodigital Syndrome Type 1
Open bite, Abnormal dental enamel morphology, Tongue nodules, Odontogenic neoplasm, Hamartoma of ... ORPHA:2750
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Hypoplasia of teeth OMIM:234050
Costello Syndrome
Macroglossia, Abnormal dental enamel morphology, Narrow palate, Gastroesophageal reflux, Abnormal... ORPHA:3071
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia, Hypertension OMIM:177200
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Horseshoe kidney, Recurrent urinary tract infections, Renal agenesis, Dental maloc... OMIM:613680
Osteopetrosis With Renal Tubular Acidosis
Abnormal renal tubule morphology, Carious teeth, Abnormality of dental morphology, Mandibular pro... ORPHA:2785
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Carious teeth, Atrophic scars, Abnormality of the urinary system, ... ORPHA:79409
Primary Hyperoxaluria
Calcium oxalate nephrolithiasis, Hematuria, Elevated urine glycolate, Hyperoxaluria, Abnormality ... ORPHA:416
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Abnormality of dental morphology, Bra... ORPHA:861
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Renal sodium wasting, Vomiting, Hyperkalemia ORPHA:556037
Craniolenticulosutural Dysplasia
Long philtrum, Carious teeth, Delayed eruption of teeth, Hypoplasia of teeth, Gastroesophageal re... OMIM:607812
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Submucous cleft soft palate, Non-mi... ORPHA:1071
3M Syndrome
Long philtrum, Abnormal dental enamel morphology, Delayed eruption of teeth, Everted lower lip ve... ORPHA:2616
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental enamel morphology, Abnormality of dental morphology, Abnormal palate morphology, ... ORPHA:85199
Orofaciodigital Syndrome Type 2
Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules, Natal ... ORPHA:2751
Wilson Disease
Drooling, Hyperphosphaturia, Chondrocalcinosis, Dysphagia, Aminoaciduria, Glycosuria, Hypercalciu... OMIM:277900
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Camptodactyly of finger, Carious teeth, Abnormal dental enam... ORPHA:2908
Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Renal salt wasting, Proximal renal tubular acido... ORPHA:427
Corneodermatoosseous Syndrome
Gingivitis, Carious teeth, Abnormal dental enamel morphology ORPHA:3194
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hypocalcification of dental enamel ORPHA:169090
Bosma Arhinia Microphthalmia Syndrome
Hypoplasia of teeth, High palate, Inguinal hernia, Cleft lip, Cleft palate, Hypospadias, Dental m... OMIM:603457
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Horseshoe kidney, Camptodactyly, Recurrent urinary tract infections, Unilateral re... ORPHA:363444
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypoplasia of the tooth germ, Contracture of the proximal interphalangeal joint of the 5th finger... ORPHA:293967
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Elevated circulating creatinine concentr... ORPHA:730
Oculoskeletodental Syndrome
Hypocalcemia, Oligodontia, Macroglossia, Mucopolysacchariduria, Hypercalciuria, Hypercalcemia, Re... OMIM:618440
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Generalized aminoaciduria, Hypouricemia, Glycosuria, Hypokal... OMIM:227810
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalciuria, Hypercalcemia, Micropenis, Hypospadias OMIM:614732
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Amelogenesis imperfecta OMIM:610319
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Increased circulating renin level, Hypochloremia, Hypercalciuria, Hypokal... OMIM:300971
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Proximal tubulopathy... OMIM:300554
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Renal sodium wasting, Vomiting, Hyperkalemia ORPHA:556030
Stuve-Wiedemann Syndrome
Pursed lips, Abnormal dental enamel morphology, Dysphagia, Flexion contracture of toe, Knee flexi... OMIM:601559
Acrocallosal Syndrome
Long philtrum, Thin vermilion border, Short philtrum, Hypoplasia of teeth, Open mouth, Microretro... OMIM:200990
Oslam Syndrome
Carious teeth ORPHA:2760
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Failure of eruption of permanent teeth, Inguinal hernia, Renal cyst, Cleft palate OMIM:272460
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Eec Syndrome
Urethral atresia, Carious teeth, Abnormal dental enamel morphology, Taurodontia, Tooth agenesis, ... ORPHA:1896
Oculodentodigital Dysplasia
Neurogenic bladder, Camptodactyly of finger, Carious teeth, Abnormal dental enamel morphology, Ta... ORPHA:2710
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Branchioskeletogenital Syndrome
Thin vermilion border, Carious teeth, Short philtrum, Downturned corners of mouth, Mandibular pro... ORPHA:1299
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
Focal Dermal Hypoplasia
Open bite, Camptodactyly of finger, Abnormal dental enamel morphology, Horseshoe kidney, Abnormal... ORPHA:2092
Hypokalemic Tubulopathy And Deafness
Increased circulating renin level, Renal salt wasting OMIM:619406
Familial Pseudohyperkalemia
Hyperkalemia, Hypertension ORPHA:90044
Craniometadiaphyseal Dysplasia
Carious teeth, Dental crowding, Mandibular prognathia, Natal tooth, High palate, Microdontia, Mal... OMIM:269300
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Renal phosphate wasting, Abnormality of renal excretion, Hyperphosphat... ORPHA:289176
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Carious teeth, Delayed eruption of primary teeth, Nephrosclerosis, Hypodontia,... OMIM:149730
Seckel Syndrome
Abnormal dental enamel morphology, Micrognathia, Tooth agenesis ORPHA:808
Focal Dermal Hypoplasia
Enamel hypoplasia, Delayed eruption of teeth, Oligodontia, Hiatus hernia, Horseshoe kidney, Bifid... OMIM:305600
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Carious teeth, Exocrine pancreatic insufficiency, Steatorrhea OMIM:612714
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hyperphosphaturia, Hypophosphatemic rickets, Increased circulating beta-C-termi... ORPHA:157215
Rothmund-Thomson Syndrome Type 2
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Abnormality of the d... ORPHA:221016
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Abnormality of the d... ORPHA:221008
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Long philtrum, Open mouth, Downturned corners of mouth, Deep philtrum, Abnormality of the dentiti... OMIM:615398
Fanconi Renotubular Syndrome 3
Proteinuria, Aminoaciduria, Hyperphosphaturia, Glycosuria OMIM:615605
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Agenesis of permanent teeth, Hypoplasia of teeth, Mandibular prognathi... OMIM:268400
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal dental enamel morphology ORPHA:1005
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta OMIM:166200
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hyperphosphaturia, Constipation, Polyuria, Aminoaciduria, Hypercalciuria, Calci... OMIM:239200
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Mandibular pain, Lipoma, Chondrocalcinosis, Dysphagia, Constipation, Hypercalci... ORPHA:99880
Cockayne Syndrome A
Carious teeth, Delayed eruption of primary teeth, Hypoplasia of teeth, Atypical scarring of skin,... OMIM:216400
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Aminoaciduria, Glycosuria, Nephrocalcinosis, Proteinuria OMIM:616026
Rubinstein-Taybi Syndrome 1
Enamel hypoplasia, Talon cusp, Narrow palate, Narrow mouth, Dental crowding, High palate, Abnorma... OMIM:180849
Parathyroid Carcinoma
Hypophosphatemia, Mandibular pain, Lipoma, Chondrocalcinosis, Dysphagia, Constipation, Hypercalci... ORPHA:143
Cockayne Syndrome B
Carious teeth, Delayed eruption of primary teeth, Hypoplasia of teeth, Atypical scarring of skin,... OMIM:133540
Tuberous Sclerosis 1
Shagreen patch, Dental enamel pits, Gingival fibromatosis, Renal angiomyolipoma, Renal cell carci... OMIM:191100
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Renal phosphate wasting, Hypercalcemia, Hypophosphatemic rickets OMIM:612089
Lenz-Majewski Hyperostotic Dwarfism
Abnormal dental enamel morphology, Facial hyperostosis, Abnormal penis morphology, Mandibular pro... ORPHA:2658
Familial Glucocorticoid Deficiency
Hypernatriuria, Constipation, Hyponatremia, Recurrent urinary tract infections, Renal salt wastin... ORPHA:361
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, High palate, Renal tubular ... OMIM:220110
Apparent Mineralocorticoid Excess
Renal insufficiency, Decreased circulating renin level, Hypokalemia, Abnormal urine sodium concen... ORPHA:320
Smith-Lemli-Opitz Syndrome
Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Mic... ORPHA:818
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Generalized aminoaciduria, Nephropathy, Glycosuria, Renal tu... ORPHA:2088
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting OMIM:201910
Primary Parathyroid Hyperplasia
Hypophosphatemia, Chondrocalcinosis, Dysphagia, Constipation, Hypercalciuria, Hypercalcemia, Rena... ORPHA:99878
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Hypercalciuria, Calcium neph... OMIM:241530
Infantile Nephropathic Cystinosis
Hypophosphatemia, Low-molecular-weight proteinuria, Hyperphosphaturia, Constipation, Aminoaciduri... ORPHA:411629
Mccune-Albright Syndrome
Hypophosphatemia, Renal phosphate wasting, Renal tubular dysfunction, Hyperphosphaturia, Abnormal... ORPHA:562
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Dental malocclusion, Carious teeth, Renal cyst, Microretrognathia OMIM:615560
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis OMIM:617993
Familial Parathyroid Adenoma
Hypophosphatemia, Renal insufficiency, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Calcium ... ORPHA:99877
Aplasia Of Lacrimal And Salivary Glands
Xerostomia, Carious teeth OMIM:180920
Hermansky-Pudlak Syndrome
Renal insufficiency, Abnormal dental enamel morphology, Gastrointestinal hemorrhage ORPHA:79430
Alström Syndrome
Dysuria, Abnormality of dental color, Hypertriglyceridemia, Recurrent sinusitis, Recurrent urinar... ORPHA:64
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Long philtrum, Downturned corners of mouth, Micrognathia, Congenital megaureter, Abnormality of t... ORPHA:369837
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia, Nausea, Increased urinary potassium ORPHA:231580
Stickler Syndrome
Open bite, Long philtrum, Abnormal dental enamel morphology, Macroglossia, Gastroesophageal reflu... ORPHA:828
Acute Adrenal Insufficiency
Renal insufficiency, Constipation, Hyponatremia, Hyperuricemia, Renal salt wasting, Increased cir... ORPHA:95409
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental enamel morphology, Camptodactyly of finger, Abnormalit... ORPHA:464
22Q11.2 Deletion Syndrome
Hypocalcemia, Carious teeth, Abnormal dental enamel morphology, Narrow mouth, Vesicoureteral refl... ORPHA:567
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypercalciuria, Hypokalemia, Polyuria OMIM:613677
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Narrow mouth, Dental crowding, Micrognathia, Thin upper lip vermilion,... OMIM:300990
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Renal neoplasm, Carious teeth, Long philtrum, Atrophic scars, Dentinogenesis imperfecta, Multiple... ORPHA:536467
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Hypokalemia, Nausea ORPHA:251274
Williams Syndrome
Open bite, Carious teeth, Abnormal dental enamel morphology, Recurrent urinary tract infections, ... ORPHA:904
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Hyperphosphaturia ORPHA:352540
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia, Nausea, Increased urinary potassium ORPHA:231625
Opsismodysplasia
Hypophosphatemia, Long philtrum, Renal phosphate wasting OMIM:258480
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperphosphaturia, Gastrointestinal hemorrhage, Transient aminoaciduria, Proxim... OMIM:229600
Tetrasomy 9P
Median cleft lip and palate, Abnormal dental enamel morphology, Multiple renal cysts, Horseshoe k... ORPHA:3310
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Vomiting, Renal tubular dys... ORPHA:436271
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Increased circulating renin level, Renal salt wasting, Penoscrotal hypospadias, Vom... ORPHA:90791
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Carious teeth, Narrow mouth, Chronic kidney disease, Oral mucosal blisters, IgA deposition in the... ORPHA:79408
Multiple Endocrine Neoplasia Type 2
Abnormal tongue morphology, Elevated urinary norepinephrine, Constipation, Thick vermilion border... ORPHA:653
Adrenal Hypoplasia, Congenital
Hyponatremia, Renal salt wasting OMIM:300200
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Hypocalcemic tetany, Persistence of primary teeth, Calvarial osteosclerosis, Hyper... ORPHA:93325
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Urogenital sinus anomaly, Hypernatriuria, Hyponatremia, Abnormal urine pota... ORPHA:168558
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hypernatriuria, Hyponatremia, Abnormal urine potassium concentration, Renal... ORPHA:275761
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Urogenital sinus anomaly, Hypernatriuria, Hyponatremia, Abnormal urine pota... ORPHA:289548
Addison Disease
Constipation, Hyponatremia, Hyperuricemia, Renal salt wasting, Increased circulating renin level,... ORPHA:85138
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Exocrine pancreatic insufficiency, Meconium ileus, Hypercalciuria, Diarrhea, Gastritis, Hypospadi... OMIM:219721
Microphthalmia With Linear Skin Defects Syndrome
Mandibular aplasia, Abnormal dental enamel morphology, Abnormal penis morphology, Congenital diap... ORPHA:2556
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Long penis, Renal salt wasting, Increased urinary 11-deoxycorticosterone level, Decreased circula... ORPHA:90795
Kindler Syndrome
Oral leukoplakia, Carious teeth, Dysphagia, Periodontitis, Urethral stenosis, Gingivitis, Phimosis OMIM:173650
Ectodermal Dysplasia-Skin Fragility Syndrome
Carious teeth, Abnormal tongue morphology, Chapped lip, Abnormality of dental morphology, Scarrin... ORPHA:158668
Familial Adenomatous Polyposis
Abnormal cementum morphology, Abnormality of the dentition, Eruption failure, Supernumerary tooth... ORPHA:733
Singleton-Merten Syndrome 1
Carious teeth, Hypoplasia of the tooth germ, Smooth philtrum, Eruption failure, Hypoplasia of the... OMIM:182250
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Hydroureter, Omphalocele, Cheilitis, ... ORPHA:2273
Johanson-Blizzard Syndrome
Urethrovaginal fistula, Hypocalcemia, Agenesis of permanent teeth, Exocrine pancreatic insufficie... OMIM:243800
Williams-Beuren Syndrome
Open mouth, Recurrent urinary tract infections, Hypercalciuria, Vesicoureteral reflux, Hypercalce... OMIM:194050
Proteus Syndrome
Carious teeth, Abnormal dental enamel morphology, Long penis, Abnormal subcutaneous fat tissue di... ORPHA:744
Beckwith-Wiedemann Syndrome
Macroglossia, Multiple renal cysts, Exocrine pancreatic insufficiency, Enlarged kidney, Congenita... ORPHA:116
Cystic Fibrosis
Exocrine pancreatic insufficiency, Steatorrhea, Hypercalciuria, Diarrhea, Ileus, Chronic sinusiti... OMIM:219700
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Long penis, Hypernatriuria, Hyponatremia, Renal salt wasting, Elevated ... ORPHA:90794
Leprechaunism
Long penis, Enlarged kidney, Thick vermilion border, Increased circulating renin level, Hypercalc... ORPHA:508
Multiple Endocrine Neoplasia Type 1
Gingival fibromatosis, Hematemesis, Constipation, Nausea, Gastroesophageal reflux, Melena, Hyperc... ORPHA:652
Sarcoidosis
Scarring, Enlargement of parotid gland, Hypercalciuria, Tubulointerstitial nephritis, Hypercalcem... ORPHA:797
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Hypercalciuria, Abnormal salivary gland morphology OMIM:181000
Generalized Arterial Calcification Of Infancy
Hyperphosphaturia, Hypophosphatemic rickets, Cortical nephrocalcinosis, Medullary nephrocalcinosi... ORPHA:51608

Histopathology

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

There is no histopathology data for Cnnm4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cnnm4.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Cnnm4 deficiency suppresses Ca2+ signaling and promotes cell proliferation in the colon epithelia. Oncogene (January 2019) Cnnm4tm1a(EUCOMM)Wtsi 30670776
Renal function of cyclin M2 Mg2+ transporter maintains blood pressure. Journal of hypertension (March 2017) Cnnm4tm1b(EUCOMM)Wtsi 28033128
The Mg2+ transporter CNNM4 regulates sperm Ca2+ homeostasis and is essential for reproduction. Journal of cell science (March 2016) Cnnm4tm1c(EUCOMM)Wtsi Cnnm4tm1a(EUCOMM)Wtsi Cnnm4tm1b(EUCOMM)Wtsi 27006114
Membrane protein CNNM4-dependent Mg2+ efflux suppresses tumor progression. The Journal of clinical investigation (October 2014) Cnnm4tm1a(EUCOMM)Wtsi PMC4348944
Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse model. PLoS genetics (December 2013) Cnnm4tm1a(EUCOMM)Wtsi PMC3854942

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MGI Allele Allele Type Produced
Cnnm4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cnnm4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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