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Gene: Cnnm4 MGI:2151060

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Jalili Syndrome
Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormality of dental color ORPHA:1873
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Amelogenesis Imperfecta, Type Ij
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta OMIM:617297
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... OMIM:618386
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta OMIM:104510
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel OMIM:613211
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... ORPHA:49042
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Recurrent urinary... OMIM:248190
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... ORPHA:1028
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia, Alaninuria OMIM:202900
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth OMIM:614564
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Enamel hypoplasia, Focal segmental glomerul... OMIM:618349
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Enamel hypoplasia, Atrophic scars, Gastrointestinal inflamm... 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
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Yellow-brown discoloration of the teeth, Amelogenesis imperfec... ORPHA:1946
Jalili Syndrome
Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormality of dental color ORPHA:1873
Enamel-Renal Syndrome
Abnormal dental enamel morphology, Impaired renal concentrating ability, Gingival overgrowth, Hyp... ORPHA:1031
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Epidermolysis Bullosa, Junctional 1A, Intermediate
Oral mucosal blisters, Hypodontia, Camptodactyly of finger, Carious teeth, Enamel hypoplasia OMIM:226650
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Familial Hypocalciuric Hypercalcemia
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Lipoma, R... ORPHA:405
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:608320
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Oral mucosal blisters, Carious teeth ORPHA:79406
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ... ORPHA:564178
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia, Chondrocalcinosis, Hypocalciuria, Renal insufficiency, Renal magnesi... OMIM:154020
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Ectodermal Dysplasia/Short Stature Syndrome
Dysphagia, Enamel hypoplasia, Hypodontia OMIM:616029
Stimmler Syndrome
Microdontia, Abnormal dental enamel morphology, Aminoaciduria ORPHA:3199
Localized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Dental enamel pits, Limb joint contracture, Atypical scarring of skin, Scarrin... ORPHA:251393
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia OMIM:605635
Epidermolysis Bullosa, Junctional 4, Intermediate
Scarring alopecia of scalp, Dental enamel pits, Carious teeth OMIM:619787
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting OMIM:618314
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked delay in erup... OMIM:104570
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
17Q11.2 Microduplication Syndrome
Thin vermilion border, Enamel hypoplasia, Abnormal dental enamel morphology, Malar flattening ORPHA:139474
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... OMIM:601198
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Scarring alopecia of scalp, Oral mucosal blisters, Atrophic scars ORPHA:79402
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding OMIM:600907
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Thick vermilion border, Carious teeth ORPHA:363523
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Renal tubular aci... OMIM:248250
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Epidermolysis Bullosa, Junctional 1B, Severe
Enamel hypoplasia, Atrophic scars, Carious teeth OMIM:226700
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Flexion contracture, Generalized hypoplasia of dental enamel OMIM:203550
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Taurodontia, Increased renal tubular phosphate reabs... OMIM:211900
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Trichoodontoonychial Dysplasia With Bone Deficiency
Enamel hypoplasia, Anodontia OMIM:275450
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... ORPHA:477781
East Syndrome
Hypomagnesemia, Hypokalemia, Abnormal urinary electrolyte concentration, Increased circulating re... ORPHA:199343
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Usher Syndrome Type 2
Abnormality of dental color, Microdontia, Abnormal dental enamel morphology, Carious teeth ORPHA:231178
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Medullary nephrocalcinosis, Carious teeth, Hyperphosphaturia, Hypoplasi... OMIM:613312
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion OMIM:613576
Kenny-Caffey Syndrome, Type 1
Calvarial osteosclerosis, Hypomagnesemia, Hypocalcemia, Carious teeth OMIM:244460
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Mandibular prognathia, Enamel hypoplasia, Malar flattening OMIM:600991
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Arrhythmia, Cardiogenic... ORPHA:31824
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Flexion contracture of finger, Supernumerary tooth, Abnormality of the d... ORPHA:69087
Hall-Riggs Mental Retardation Syndrome
U-Shaped upper lip vermilion, Hypoplasia of the primary teeth, Microdontia of primary teeth, Enam... OMIM:234250
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Pseudohypoaldosteronism Type 2
Abnormality of the dentition, Hyperkalemia, Abnormal dental enamel morphology ORPHA:757
48,Xyyy Syndrome
High palate, Irregularly spaced teeth, Long philtrum, Abnormal renal morphology, Enamel hypoplasi... ORPHA:99329
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Hyponatrem... OMIM:613845
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia OMIM:261560
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Tooth agenesis, Short philtrum, Delayed eruption of teeth, Mandibular prognathia, Abnormal dental... ORPHA:2325
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Urethral stricture, Increased connective tissue, Carious teeth, Enamel hypoplasia, Scarring alope... OMIM:226670
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr... ORPHA:2972
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Combined Oxidative Phosphorylation Deficiency 55
High palate, Hypophosphatemic rickets, Hypomagnesemia, Constipation, Hypophosphatemia, Stage 3 ch... OMIM:619743
Oculocerebrodental Syndrome
Hypocalcemia, Retrognathia, Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypopl... ORPHA:557003
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia, Xerostomia, Diarrhea, Vomiting, Hematochezia, Glossitis OMIM:175500
Familial Isolated Hypoparathyroidism
Hypocalcemia, Nephropathy, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2238
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormality of dental morphology, Hypoplasia of teeth, Premature loss of primary teeth ORPHA:248
Liddle Syndrome 3
Hypertension, Hypokalemia OMIM:618126
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Hyperphosphaturia, Horseshoe kidney, Abnormality of dental morphology, ... OMIM:163200
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Abnormal renal tubule morphology, Proteinuria, Delayed eruption of permanent ... ORPHA:839
Microcephalic Primordial Dwarfism, Toriello Type
Downturned corners of mouth, Enamel hypoplasia ORPHA:2643
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Amelogenesis imperfecta, Hypodontia OMIM:615905
Bartter Syndrome, Type 1, Antenatal
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Constipation, Increased urinary potassium, R... OMIM:601678
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Low urinary... OMIM:612462
Tricho-Dento-Osseous Syndrome
Taurodontia, Periapical tooth abscess, Microdontia, Widely spaced teeth, Enamel hypomineralizatio... ORPHA:3352
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Constipation, Chondrocalcinosis, Polyuria, Hypocalciuria, Nocturia, ... OMIM:263800
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Polyuria, Hypocalciuria, Increased circulating renin level, Renal so... OMIM:612780
Hypocalciuric Hypercalcemia, Familial, Type Ii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Chondroca... OMIM:145981
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:71267
Mulibrey Nanism
Dental malocclusion, Hypodontia, Nephroblastoma, Enamel hypoplasia, Hypoplastic frontal sinuses, ... OMIM:253250
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Micrognathia OMIM:251190
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Trichodental Dysplasia
Odontodysplasia, Conical tooth, Hypodontia OMIM:601453
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Gingival overgrowth, Dagger-shaped pulp calcifications, Pol... OMIM:204690
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Delayed eruption of teeth, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemi... ORPHA:94089
Dental Anomalies And Short Stature
Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibular prognathia, ... OMIM:601216
Heimler Syndrome 2
Dental crowding, Amelogenesis imperfecta OMIM:616617
Orthostatic Hypotension 1
Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitrogen, Hypomagnesemia OMIM:223360
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Hip contracture, Tooth agenesis, Microretrognathia, Cleft palate, Inguinal hernia, M... OMIM:618363
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Oral mucosal blisters, Enamel hypoplasia, Arthrogryposis multiplex congenit... OMIM:226730
Distal Renal Tubular Acidosis
Nephrolithiasis, Hypokalemia, Constipation, Aminoaciduria, Decreased glomerular filtration rate, ... ORPHA:18
Andersen-Tawil Syndrome
High palate, Renal tubular dysfunction, Persistence of primary teeth, Abnormality of the dentitio... ORPHA:37553
Pili Torti
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:2889
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Low urinary... OMIM:103580
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Hypophosphatasia, Childhood
Elevated plasma pyrophosphate, Premature loss of primary teeth, Phosphoethanolaminuria, Carious t... OMIM:241510
Kohlschutter-Tonz Syndrome-Like
Constipation, Gastroesophageal reflux, Recurrent urinary tract infections, Delayed eruption of te... OMIM:619229
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture OMIM:270200
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Dental malocclusion, Malar flattening OMIM:616108
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Cleft palate, Everted lower lip vermilion, Multicystic kidney dyspl... OMIM:619980
Hypocalciuric Hypercalcemia, Familial, Type Iii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... OMIM:600740
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Widely spaced teeth, Conical tooth OMIM:613573
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Bartter Syndrome, Type 2, Antenatal
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Constipation, Increased urinary potassium, R... OMIM:241200
Hypocalciuric Hypercalcemia, Familial, Type I
Nephrolithiasis, Hypocalciuria, Hypercalciuria, Hypercalcemia, Hypermagnesemia OMIM:145980
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Elevated ... ORPHA:94093
Bartter Syndrome Type 4
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Impaired renal concentrating ability, Chroni... ORPHA:89938
Blepharophimosis-Impaired Intellectual Development Syndrome
Dental malocclusion, Wide mouth, Gastroesophageal reflux, Flexion contracture, Enuresis, Hypospad... OMIM:619293
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating creatine kinase concentration, Amelogenesis imperfecta, Malar flattening, He... OMIM:614727
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Mucopolysaccharidosis Type 4
Wide mouth, Abnormality of the dentition, Grayish enamel, Carious teeth, Hernia, Mucopolysacchari... ORPHA:582
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hypercal... ORPHA:73224
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypophosphatemic rickets, Hypertension, Congestive heart failure OMIM:614473
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Usher Syndrome
Abnormality of dental color, Microdontia, Abnormal dental enamel morphology, Carious teeth ORPHA:886
Ramon Syndrome
Delayed eruption of teeth, Narrow palate, Gingival fibromatosis, Abnormal dental enamel morphology ORPHA:3019
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Enamel hypoplasia, Scarring alopecia of scalp, Carious teeth OMIM:612843
Mucopolysaccharidosis, Type Ivb
Wide mouth, Inguinal hernia, Grayish enamel, Carious teeth, Widely spaced teeth, Mandibular progn... OMIM:253010
Acrootoocular Syndrome
Anodontia, Dental malocclusion, Supernumerary tooth, High, narrow palate, Micrognathia, Delayed e... ORPHA:2980
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Amelogenesis imperfecta OMIM:245660
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... OMIM:308990
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Fibromatosis, Gingival, With Distinctive Facies
High palate, Persistence of primary teeth, Everted lower lip vermilion, Gingival fibromatosis, Ir... OMIM:228560
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Arrhythmia, Hypotension, Hyperphosphatemia, Congestive heart failure ORPHA:428
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth OMIM:183300
Cockayne Syndrome Type 2
Anodontia, Widely spaced primary teeth, Scarring, Hypoplasia of the primary teeth, Flexion contra... ORPHA:90322
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Everted lower lip vermilion, Delayed eruption of teeth, Gingiva... ORPHA:2025
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Chronic diarrhea ORPHA:398063
Mucopolysaccharidosis, Type Iva
Wide mouth, Chondroitin sulfate excretion in urine, Inguinal hernia, Grayish enamel, Carious teet... OMIM:253000
Osteogenesis Imperfecta, Type Xxii
Abnormal blood phosphate concentration, Dentinogenesis imperfecta, Abnormal circulating calcium c... OMIM:619795
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Delayed eruption of teeth, Enamel hypoplasia, Generalized aminoaciduria, Hypoca... OMIM:264700
Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... ORPHA:2228
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, Microdontia, En... OMIM:618727
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Polyuria, Hematochezia, Renal dysplasia, Hypertriglyceridemia, Hypo... OMIM:618183
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Hypokalemia, Prominent frontal sinuses, Persistence of primary teeth, Cleft palate, ... OMIM:170390
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Hypodontia, Cleft palate, Hypospadias, Oligodontia, Enamel hypoplasia, Thick ver... OMIM:619184
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Glycosuria, Hematuria, Proteinuria, Stage 5 chronic kidney dis... OMIM:219800
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Unilateral renal agenesis, Elevated circulating creatine kinase concentration, Hype... OMIM:614576
Qazi-Markouizos Syndrome
High, narrow palate, Open mouth, Hypoplasia of teeth, Broad philtrum, Chronic constipation ORPHA:3010
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Abnormality of the dentition, Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Ohdo Syndrome
Narrow mouth, Thin vermilion border, Micrognathia, Long philtrum, Widely spaced teeth, Proteinuri... OMIM:249620
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Carious teeth OMIM:161000
Cranioectodermal Dysplasia
Taurodontia, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Microdontia, ... ORPHA:1515
Pyle Disease
Delayed eruption of teeth, Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Abs... OMIM:265900
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Corneal scarring, Narrow mouth, Oral mucosal blisters, Constipation, Flexion contracture, Enamel ... OMIM:226600
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Malar flattening, Hypospadias, Bilateral cleft lip and palate, Enamel hypoplasia, An... OMIM:618874
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Eruption failure, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Multiple non-erupting... OMIM:273050
Cockayne Syndrome Type 1
Widely spaced primary teeth, Anodontia, Scarring, Hypoplasia of the primary teeth, Increased bloo... ORPHA:90321
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Episodic hypokalemia, Transient hypophosphatemia, Palpitations, Shortened PR inte... ORPHA:79102
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Delayed eruption of teeth, Carious teeth, Enamel hypoplasia, Hypocalcemic seizures OMIM:277440
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Enamel hypoplasia, Oligodontia, Hypodontia OMIM:607626
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Delayed eruption of teeth, Enamel hypoplasia, Generalized aminoac... ORPHA:289157
48,Xxyy Syndrome
Taurodontia, Gastroesophageal reflux, Constipation, Cleft palate, Open bite, Inguinal hernia, Hyp... ORPHA:10
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Oligodontia, Scarring alopecia of scalp, Hypodontia, Abnormal dental enamel morphology ORPHA:59303
Junctional Epidermolysis Bullosa With Pyloric Atresia
Aplasia of the bladder, Oral mucosal blisters, Ureterocele, Renal duplication, Hematuria, Urethra... ORPHA:79403
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Lipoatrophy, Abnormal... ORPHA:1133
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Hypodontia, Macrodontia, Bifid uvula, Enamel hypoplasia, Mandibular prognathia OMIM:263540
Scarf Syndrome
Inguinal hernia, Micropenis, Long philtrum, Enamel hypoplasia, Umbilical hernia, Hypocalcificatio... ORPHA:3134
Pycnodysostosis
High palate, Dental malocclusion, Obtuse angle of mandible, Persistence of primary teeth, Hypodon... ORPHA:763
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Seckel Syndrome 1
High palate, Dental malocclusion, Cleft palate, Micrognathia, Hypospadias, Enamel hypoplasia, Elb... OMIM:210600
Cranioectodermal Dysplasia 1
High palate, Anodontia, Chronic kidney disease, Hypocalcemia, High, narrow palate, Hypodontia, Ev... OMIM:218330
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia, Carious teeth, Incre... OMIM:613684
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Constipation, Hypocalcemia, Renal tubular acidosis, Chondrocalcinosi... ORPHA:358
Helix Syndrome
Nephrolithiasis, Hypokalemia, Polyuria, Xerostomia, Hypocalciuria, Renal insufficiency, Hypermagn... OMIM:617671
Raine Syndrome
High palate, Wide mouth, Gingival overgrowth, Narrow mouth, Hypophosphatemia, Cleft palate, Malar... OMIM:259775
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia OMIM:241519
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Nephrolithiasis, Hypodontia, Hypoplasia of penis, Hypospadias, Delayed eruption of teeth, Shagree... ORPHA:1816
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Pseudohypoaldosteronism, Type Iia
Hypertension, Hyperkalemia OMIM:145260
Eem Syndrome
Microdontia, Carious teeth, Widely spaced teeth, Abnormality of dental morphology, Selective toot... ORPHA:1897
Pseudohypoaldosteronism, Type Iib
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614495
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... OMIM:300555
Pearson Syndrome
Exocrine pancreatic insufficiency, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, S... ORPHA:699
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Chronic diarrhea ORPHA:90362
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, A... OMIM:307800
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating renin level OMIM:605115
Xfe Progeroid Syndrome
Corneal scarring, Premature loss of teeth, Enamel hypoplasia, Absence of subcutaneous fat, Hypoal... OMIM:610965
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Ileus, Hypomagnesemia, Colitis, Gastritis, Hypocalcemia, Nephrotic syndrome, Decreased prealbumin... ORPHA:37042
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Hyperphosphaturia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central incisor, Thin vermi... OMIM:257850
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Bone Marrow Failure Syndrome 3
Exocrine pancreatic insufficiency, Hypodontia, Micrognathia, Microdontia, Enamel hypoplasia, Hern... OMIM:617052
Uremic Pruritus
Chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hyp... ORPHA:94059
Immunodeficiency 33
Delayed eruption of teeth, Conical tooth, Hypodontia OMIM:300636
Porphyria, Congenital Erythropoietic
Corneal scarring, Erythrodontia, Joint contracture of the hand, Atypical scarring of skin, Pink u... OMIM:263700
Proximal Renal Tubular Acidosis
Nephrolithiasis, Hypokalemia, Aminoaciduria, Hyperuricosuria, Diarrhea, Glycosuria, Vomiting, Glo... ORPHA:47159
Odontochondrodysplasia
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:166272
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating biopterin concentration, Hypomagnesemia, Abnormal circulating neopterin conc... ORPHA:1578
Mandibuloacral Dysplasia
High palate, Dental crowding, Increased adipose tissue around the neck, Lipoatrophy, Micrognathia... ORPHA:2457
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cleft palate, Microdontia, Widely spaced teeth, Proteinuria, Hypoplasia of teeth, Multiple bladde... ORPHA:2728
Corneodermatoosseous Syndrome
Hypomature dental enamel OMIM:122440
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Carious teeth OMIM:604922
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
Immunodeficiency 9
Stomatitis, Amelogenesis imperfecta, Recurrent aphthous stomatitis OMIM:612782
Mandibuloacral Dysplasia With Type B Lipodystrophy
High palate, Premature loss of teeth, Narrow mouth, Hyperlipidemia, Flexion contracture, Microgna... OMIM:608612
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal palate morphology, Abnormal dental enamel morphology ORPHA:3236
Sanjad-Sakati Syndrome
Hypocalcemia, Hypoplasia of penis, Thin vermilion border, Abnormality of the dentition, Micrognat... ORPHA:2323
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Hypercalcemia, Infantile, 1
Nephrolithiasis, Polyuria, Vomiting, Hypercalciuria, Infantile hypercalcemia, Nephrocalcinosis, T... OMIM:143880
Oculodentodigital Dysplasia
Cleft upper lip, Premature loss of teeth, Taurodontia, Cleft palate, Microdontia, Carious teeth, ... OMIM:164200
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Macroscopic hematuria, Membranoproliferative glomerulonephritis, E... ORPHA:251004
Hepatoerythropoietic Porphyria
Erythrodontia, Purple urine, Red-brown urine, Abnormal circulating porphyrin concentration, Scarr... ORPHA:95159
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Hereditary Fructose Intolerance
Chronic kidney disease, Hypophosphatemia, Constipation, Diarrhea, Vomiting, Nausea, Renal insuffi... ORPHA:469
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Steatorrhea, Diarrhea, Vomiting, Enamel hypoplasia, Stomatitis, Recurrent aphthous ... OMIM:212750
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth, Carious teeth ORPHA:3145
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Specific Granule Deficiency 2
Amelogenesis imperfecta, Intractable diarrhea, Conical tooth, Tooth malposition OMIM:617475
Liddle Syndrome 2
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:618114
Osteogenesis Imperfecta
Nephrolithiasis, Dental malocclusion, Constipation, Dentinogenesis imperfecta, Flexion contractur... ORPHA:666
Congenital Erythropoietic Porphyria
Erythrodontia, Increased erythrocyte protoporphyrin concentration, Increased urinary porphobilino... ORPHA:79277
Orofaciodigital Syndrome I
High palate, Cleft upper lip, Alveolar ridge overgrowth, Microretrognathia, Supernumerary tooth, ... OMIM:311200
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Chondrocalcinosis, Hyperphosphaturia, Hypercalciuria, Renal insufficiency, Hype... ORPHA:99879
Hamamy Syndrome
High palate, Wide mouth, Dental malocclusion, Hypodontia, Inguinal hernia, Everted lower lip verm... OMIM:611174
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Delayed eruption of teeth, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemi... ORPHA:79444
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Mandibular prognathia, Malar flattening, Abnormal dental enamel morphology ORPHA:2180
Temtamy Syndrome
Dental crowding, Hypoplasia of teeth, Micrognathia, Long philtrum OMIM:218340
Nail-Patella Syndrome
Nephrotic syndrome, Constipation, Nephritis, Flexion contracture, Contracture of the distal inter... ORPHA:2614
Lowe Oculocerebrorenal Syndrome
Constipation, Joint contracture of the hand, Aminoaciduria, Proximal renal tubular acidosis, Camp... OMIM:309000
Hall-Riggs Syndrome
Wide mouth, Delayed eruption of teeth, Downturned corners of mouth, Thick vermilion border, Abnor... ORPHA:2107
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, Long philtrum, Delayed e... ORPHA:50814
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Anodontia, Hypodontia, Abnormality of the dentition, Micrognathia, Abnormality o... ORPHA:3253
Hypophosphatemic Rickets
Renal phosphate wasting, Hypophosphatemia, Periapical tooth abscess, Abnormality of the dentition... ORPHA:437
Kilquist Syndrome
Wide mouth, Gastroesophageal reflux, Xerostomia, Mandibular prognathia, Hypoplasia of teeth, Chro... OMIM:619080
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Bloody diarrhea, Enterocolitis, Hematochezia, Intestinal obstruction, Enamel hypoplasia, Omphalocele OMIM:243150
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Hypercalciuria, Hyperphosphaturia OMIM:612286
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Nephrocalcinosis, Diarrhea, Enamel hypoplasia OMIM:240300
Scarf Syndrome
Inguinal hernia, Micropenis, Long philtrum, Enamel hypoplasia, Umbilical hernia, Perineal hypospa... OMIM:312830
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Dental malocclusion, Maxillary lateral incisor microdontia, Thin vermilion border, Micrognathia, ... ORPHA:73223
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Hypodontia, Cleft palate, Abnormality of the upper urinary tract, Macrodontia, Vaginal hernia, Ma... ORPHA:2916
48,Xxxy Syndrome
Taurodontia, Gastroesophageal reflux, Constipation, Cleft palate, Open bite, Inguinal hernia, Hyp... ORPHA:96263
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Vomiting, Hypercalciuria, Hypercalcemia, Nephrocalcinosis OMIM:239199
Codas Syndrome
Abnormality of dental morphology, Hydroureter, Delayed eruption of teeth, Abnormal dental enamel ... ORPHA:1458
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Vomiting, Increased circulating renin level, Nause... OMIM:241150
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enamel hypoplasia, Wide mouth, Bifid uvula, Abnormality of the dentition OMIM:615802
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Narrow mouth, Micrognathia, Short philtrum, Oligodontia, Long philtrum, Downturned corners of mou... ORPHA:391408
Acrofacial Dysostosis, Catania Type
Hypospadias, Carious teeth OMIM:101805
Congenital Disorder Of Glycosylation, Type Iim
High palate, Neonatal hyperbilirubinemia, Vesicovaginal fistula, Gastroesophageal reflux, Short p... OMIM:300896
Cleidocranial Dysplasia 1
High palate, Narrow palate, Supernumerary tooth, High, narrow palate, Cleft palate, Malar flatten... OMIM:119600
Dysosteosclerosis
Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:1782
Pseudohypoaldosteronism, Type Iic
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614496
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
49,Xxxxy Syndrome
Taurodontia, Gastroesophageal reflux, Constipation, Cleft palate, Open bite, Hypoplasia of penis,... ORPHA:96264
Corticosterone Methyloxidase Type I Deficiency
Vomiting, Increased circulating renin level, Hyponatremia, Hyperkalemia, Renal salt wasting OMIM:203400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
High palate, Wide mouth, Reduced subcutaneous adipose tissue, Delayed eruption of teeth, Mandibul... OMIM:619503
Oculotrichodysplasia
Widely spaced primary teeth, Agenesis of permanent teeth, Microdontia of primary teeth, Carious t... OMIM:257960
Severe Generalized Junctional Epidermolysis Bullosa
Constipation, Ureteral obstruction, Vomiting, Urinary retention, Erosion of oral mucosa, Gastroin... ORPHA:79404
Odontomicronychial Dysplasia
Abnormality of the dentition, Premature loss of primary teeth, Premature eruption of permanent teeth ORPHA:1811
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insufficiency, Pro... OMIM:613388
Developmental And Epileptic Encephalopathy 100
High palate, Gingival overgrowth, Gastroesophageal reflux, Micrognathia, Microdontia, Enamel hypo... OMIM:619777
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Dysostosis, Stanescu Type
Tooth agenesis, Macroglossia, Abnormality of the dentition, Carious teeth, Hypoplasia of the zygo... ORPHA:1798
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Nephronophthisis, Long philtrum, Delayed eruption of teeth, Polycystic... OMIM:184260
Short Syndrome
Malar flattening, Inguinal hernia, Abnormality of the dentition, Microdontia, Lipodystrophy, Abno... ORPHA:3163
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Delayed eruption of teeth, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemi... ORPHA:79443
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Premature loss of teeth, Periodontitis, Dentinogenesis imperfecta, Retrognathia, Moderate albumin... OMIM:619269
Pde4D Haploinsufficiency Syndrome
Malar flattening, Micrognathia, Short philtrum, Hypospadias, Long philtrum, Hypoplasia of the max... ORPHA:439822
Cleidocranial Dysplasia
Sinusitis, Supernumerary tooth, High, narrow palate, Cleft palate, Open bite, Glossoptosis, Abnor... ORPHA:1452
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Hypokalemia, Hypocalcemia, Ami... ORPHA:411634
Tooth Agenesis, Selective, X-Linked, 1
Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later... OMIM:313500
Knobloch Syndrome 2
Enamel hypoplasia, Micrognathia, Chronic constipation OMIM:618458
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia OMIM:612287
Idiopathic Hypercalciuria
Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis ORPHA:2197
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Diarrhea, Vomiting, Hyponatremia, Hyperkalemia, Renal salt wasting OMIM:264350
Acrocallosal Syndrome
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Umbilical hernia, Open m... OMIM:200990
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Dental malocclusion, Hip contracture, Micropenis, Carious te... OMIM:216400
Koolen-De Vries Syndrome
Narrow palate, High, narrow palate, Cleft palate, Hypodontia, Everted lower lip vermilion, Abnorm... ORPHA:96169
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Premature loss of teeth, Reduced subcutaneous adipose tissue, Increased adipose tiss... OMIM:248370
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hyperna... OMIM:613090
Medullary Sponge Kidney
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria ORPHA:1309
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Retrognathia, Hypospadias, Enamel hypoplasia, Microdontia OMIM:210720
Oculocerebrorenal Syndrome Of Lowe
Cheilitis, Constipation, Hypoammonemia, Abnormality of the dentition, Delayed eruption of teeth, ... ORPHA:534
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Gastroesophageal reflux, Renal tubular atrophy, Decreased glomerular filtrati... ORPHA:85450
Brittle Cornea Syndrome 1
Atypical scarring of skin, Dentinogenesis imperfecta OMIM:229200
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Chronic Mucocutaneous Candidiasis
Cheilitis, Recurrent urinary tract infections, Hematuria, Abnormal lip morphology, Abnormal denta... ORPHA:1334
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Vomiting, Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis OMIM:602722
Dent Disease 1
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... OMIM:300009
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Velopharyngeal insufficiency, Unilateral renal agenesis, Micrognathia, Recur... OMIM:613680
Osteogenesis Imperfecta, Type Xi
Abnormality of the dentition, Dentinogenesis imperfecta OMIM:610968
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Renal salt wasting OMIM:614736
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Carious teeth, Hypocalcemic tetany, Calvarial osteosclerosis, Hypocalcemic seizures ORPHA:93324
Bartter Syndrome, Type 3
Hypokalemia, Increased urinary potassium, Polyuria, Hypocalciuria, Increased circulating renin le... OMIM:607364
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Bicarbonate-was... ORPHA:3337
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Oral mucosal blisters, Enamel hypoplasia, Smooth tongue, Hypoalbuminemia, Atrophic scars, Scarring ORPHA:79396
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Cenani-Lenz Syndrome
Renal hypoplasia/aplasia, Hypodontia, Malar flattening, High, narrow palate, Short philtrum, Cros... ORPHA:3258
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... OMIM:602522
Cole-Carpenter Syndrome 2
High palate, Dentinogenesis imperfecta, Microretrognathia OMIM:616294
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Dental malocclusion, Abnormal number of teeth, Nephrotic syn... ORPHA:191
Hypophosphatasia, Infantile
Constipation, Abnormality of the dentition, Elevated plasma pyrophosphate, Vomiting, Phosphoethan... OMIM:241500
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Gastroesophageal reflux, Cleft palate, Malar flattening, Long philtrum, ... OMIM:607812
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... ORPHA:1652
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting OMIM:610600
Hypophosphatasia, Adult
Chondrocalcinosis, Premature loss of permanent teeth, Premature loss of primary teeth, Carious teeth OMIM:146300
Cole-Carpenter Syndrome
Micrognathia, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2050
Rothmund-Thomson Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Abnormality of the dentition, Diarrhea, D... ORPHA:2909
Trichothiodystrophy
Multiple joint contractures, High, narrow palate, Retrognathia, Carious teeth, Enamel hypoplasia,... ORPHA:33364
Cranioectodermal Dysplasia 3
Nephronophthisis, Everted lower lip vermilion, Micrognathia, Widely spaced teeth, Hypoplasia of t... OMIM:614099
Codas Syndrome
Enamel hypoplasia, Gastroesophageal reflux, Delayed eruption of teeth, Omphalocele OMIM:600373
Arthrogryposis And Ectodermal Dysplasia
Cleft upper lip, Joint contracture of the hand, Cleft palate, Oligodontia, Oral cleft, Camptodact... OMIM:601701
Osteogenesis Imperfecta, Type Iii
Micrognathia, Dentinogenesis imperfecta OMIM:259420
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Hypophosphatemia, Tooth malposition, Micrognathia, Hypercalciuria, Knee flexion ... OMIM:156400
Cockayne Syndrome Type 3
Gastroesophageal reflux, Flexion contracture, Unilateral renal agenesis, Hydroureter, Carious tee... ORPHA:90324
Osteogenesis Imperfecta, Type X
Nephrolithiasis, Dentinogenesis imperfecta, Inguinal hernia, Malar flattening, Micrognathia OMIM:613848
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypophosphatemia, Cellulitis, Hypocalciuria, Odontodysplasia, Enthesitis... ORPHA:89936
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Cleft palate, Inguinal hernia, Retrognathia, Microdontia, Hypoplasia of the ... ORPHA:1812
Costello Syndrome
Narrow palate, Gastroesophageal reflux, Macroglossia, Abnormality of the dentition, Abnormal dent... ORPHA:3071
Lacrimoauriculodentodigital Syndrome
Hypodontia, Abnormality of the dentition, Micrognathia, Xerostomia, Microdontia, Bifid uvula, Car... ORPHA:2363
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Gastroesophageal reflux, Velopharyngeal insufficiency, Cleft palate, Thin vermilion border, Long ... OMIM:614701
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Hypoplasia of teeth OMIM:234050
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hypernatriuria, Decreased serum creatinine, Hyponatremia OMIM:300539
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of the dentition, Camptodactyly of finger, Taurodontia, Abnormal dental enamel morpho... ORPHA:3220
Orofaciodigital Syndrome Type 1
High palate, Exocrine pancreatic insufficiency, Cleft palate, Abnormality of the dentition, Lobul... ORPHA:2750
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Hypodontia, Cleft palate, Micrognathia, Submucous cleft soft palate, Delayed eruption of teeth, W... ORPHA:1071
Primary Hyperoxaluria
Chronic kidney disease, Abnormality of the dentition, Calcium oxalate nephrolithiasis, Hematuria,... ORPHA:416
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Abnormality of the urinary system, Urethral stricture, Carious teeth, Atro... ORPHA:79409
3M Syndrome
Everted lower lip vermilion, Hypospadias, Long philtrum, Delayed eruption of teeth, Abnormal dent... ORPHA:2616
Late-Onset Familial Hypoaldosteronism
Vomiting, Increased circulating renin level, Hyponatremia, Renal sodium wasting, Hyperkalemia ORPHA:556037
Corneodermatoosseous Syndrome
Gingivitis, Abnormal dental enamel morphology, Carious teeth ORPHA:3194
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Familial Hypoaldosteronism
Proximal renal tubular acidosis, Diarrhea, Increased circulating renin level, Hyponatremia, Decre... ORPHA:427
Oculoskeletodental Syndrome
Hypocalcemia, Macroglossia, Renal agenesis, Oligodontia, Hypercalciuria, Elbow flexion contractur... OMIM:618440
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft upper lip, Tooth agenesis, Narrow mouth, Hypoplasia of penis, Clef... ORPHA:861
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypocalcification of dental enamel, Amelogenesis imperfecta ORPHA:169090
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal palate morphology, Wide mouth, Cleft palate, Malar flattening, Micrognathia, Hypospadias... ORPHA:85199
Spondylocarpotarsal Synostosis Syndrome
Inguinal hernia, Cleft palate, Failure of eruption of permanent teeth, Enamel hypoplasia, Renal cyst OMIM:272460
Kindler Epidermolysis Bullosa
Cheilitis, Colitis, Periodontitis, Flexion contracture, Camptodactyly of finger, Premature loss o... ORPHA:2908
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Dental malocclusion, Velopharyngeal insufficiency, Micropenis, Retrogn... ORPHA:363444
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Micropenis, Micrognathia, Hypoplasia of the tooth germ, Bifid uvula, Contracture of the proximal ... ORPHA:293967
Pycnodysostosis
Narrow palate, Persistence of primary teeth, Hypodontia, Micrognathia, Carious teeth, Delayed eru... OMIM:265800
Orofaciodigital Syndrome Type 2
High palate, Agenesis of central incisor, Taurodontia, Velopharyngeal insufficiency, Cleft palate... ORPHA:2751
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Amelogenesis imperfecta OMIM:610319
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Gl... OMIM:227810
Early-Onset Familial Hypoaldosteronism
Vomiting, Increased circulating renin level, Hyponatremia, Renal sodium wasting, Hyperkalemia ORPHA:556030
Rubinstein-Taybi Syndrome 1
High palate, Dental malocclusion, Narrow mouth, Narrow palate, Constipation, Gastroesophageal ref... OMIM:180849
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Polyuria, Increased circulating renin level, Hypercalciuria, Hyponatremia, Medullary... OMIM:300971
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Chronic kid... OMIM:300554
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Bosma Arhinia Microphthalmia Syndrome
High palate, Dental malocclusion, Paranasal sinus hypoplasia, Cleft palate, Inguinal hernia, Micr... OMIM:603457
Focal Dermal Hypoplasia
Tooth agenesis, Gastroesophageal reflux, Congenital diaphragmatic hernia, Abnormal adipose tissue... ORPHA:2092
Oculodentodigital Dysplasia
Tooth agenesis, Taurodontia, Cleft palate, Micrognathia, Camptodactyly of finger, Premature loss ... ORPHA:2710
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Oslam Syndrome
Carious teeth ORPHA:2760
Hypokalemic Tubulopathy And Deafness
Increased circulating renin level, Renal salt wasting OMIM:619406
Branchioskeletogenital Syndrome
Premature loss of teeth, Micropenis, Thin vermilion border, Abnormality of the dentition, Short p... ORPHA:1299
Seckel Syndrome
Micrognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:808
Eec Syndrome
Tooth agenesis, Taurodontia, Renal hypoplasia/aplasia, Cleft palate, Urethral atresia, Hypospadia... ORPHA:1896
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
Familial Pseudohyperkalemia
Hypertension, Hyperkalemia ORPHA:90044
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Hypophosphatemic rickets, Abnormality of renal excretion, Renal hypophos... ORPHA:289176
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, M... ORPHA:157215
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Abnormality of the dentition, Long philtrum, Ureteral stenosis, Hypercalciuria, Down... OMIM:615398
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalciuria, Hypercalcemia, Micropenis OMIM:614732
Lacrimoauriculodentodigital Syndrome
Nephrosclerosis, Aplasia of the parotid gland, Hypodontia, Renal agenesis, Absence of Stensen duc... OMIM:149730
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Premature loss of teeth, Increased urine deoxypyridinoline level, Hydroxyproli... OMIM:239000
Rothmund-Thomson Syndrome Type 2
High palate, Tooth agenesis, Cleft palate, Abnormality of the dentition, Diarrhea, Vomiting, Dela... ORPHA:221016
Rothmund-Thomson Syndrome Type 1
Tooth agenesis, Abnormality of the dentition, Diarrhea, Delayed eruption of teeth, Vomiting, Micr... ORPHA:221008
Focal Dermal Hypoplasia
Cleft upper lip, Dental malocclusion, Hiatus hernia, Hypodontia, Cleft palate, Congenital diaphra... OMIM:305600
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal dental enamel morphology ORPHA:1005
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Constipation, Aminoaciduria, Polyuria, Hypercalciuria, Hypercalcemia, Calcinosi... OMIM:239200
Rothmund-Thomson Syndrome, Type 2
High palate, Supernumerary tooth, Micrognathia, Agenesis of permanent teeth, Delayed eruption of ... OMIM:268400
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis, Hy... OMIM:616026
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrolithiasis, Mandibular pain, Lipoma, Constipation, Hypophosphatemia, Chondrocalcinosis, Neph... ORPHA:99880
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta OMIM:166200
Parathyroid Carcinoma
Nephrolithiasis, Mandibular pain, Lipoma, Constipation, Hypophosphatemia, Chondrocalcinosis, Neph... ORPHA:143
Familial Glucocorticoid Deficiency
Constipation, Diarrhea, Recurrent urinary tract infections, Vomiting, Hypernatriuria, Hyponatremi... ORPHA:361
Tuberous Sclerosis 1
Renal angiomyolipoma, Gingival fibromatosis, Shagreen patch, Renal cell carcinoma, Renal cyst, De... OMIM:191100
Lenz-Majewski Hyperostotic Dwarfism
Wide mouth, High, narrow palate, Cleft palate, Inguinal hernia, Abnormal penis morphology, Hyposp... ORPHA:2658
Smith-Lemli-Opitz Syndrome
Wide mouth, Cleft palate, Advanced eruption of teeth, Tooth agenesis, Hypoplasia of penis, Microg... ORPHA:818
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Dental malocclusion, Micropenis, Carious teeth, Atypical sca... OMIM:133540
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, H... OMIM:241530
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Hypophosphatemia, Constipation, Hypokalemia, Aminoaciduria, Glycosuria... ORPHA:411629
Fanconi-Bickel Syndrome
Hypophosphatemia, Renal tubular acidosis, Glycosuria, Nephropathy, Hypercalciuria, Hypertriglycer... ORPHA:2088
Apparent Mineralocorticoid Excess
Hypokalemia, Abnormal urine sodium concentration, Renal insufficiency, Decreased circulating reni... ORPHA:320
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting OMIM:201910
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria, Hypouricemia OMIM:242050
Mccune-Albright Syndrome
Renal phosphate wasting, Dental malocclusion, Renal tubular dysfunction, Hypophosphatemia, Gastro... ORPHA:562
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Renal insufficiency, Abnormal dental enamel morphology ORPHA:79430
Incontinentia Pigmenti
Hypodontia, Camptodactyly of finger, Delayed eruption of teeth, Oral cleft, Umbilical hernia, Abn... ORPHA:464
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Dental malocclusion, Renal cyst, Microretrognathia, Carious teeth OMIM:615560
Acute Adrenal Insufficiency
Constipation, Diarrhea, Increased circulating renin level, Renal insufficiency, Hyponatremia, Hyp... ORPHA:95409
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Premature loss of teeth, Gastroesophageal reflux, High, narrow palate, Malar flattening, Congenit... ORPHA:369837
Alström Syndrome
Dysuria, Chronic kidney disease, Tooth agenesis, Gastroesophageal reflux, Hyperlipidemia, Micrope... ORPHA:64
Aplasia Of Lacrimal And Salivary Glands
Xerostomia, Carious teeth OMIM:180920
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
High palate, Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Protei... OMIM:220110
22Q11.2 Deletion Syndrome
Constipation, Cleft palate, Abnormality of the dentition, Short philtrum, Carious teeth, Umbilica... ORPHA:567
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Nausea, Increased urinary potassium, Hypokalemia ORPHA:231580
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Narrow mouth, Micrognathia, Delayed eruption of teeth, Bifid uvula, Renal dysplasia, Hypercalciur... OMIM:300990
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Multiple joint contractures, Dentinogenesis imperfecta, Renal neoplasm, Micrognathia... ORPHA:536467
Stickler Syndrome
Cleft upper lip, Tooth agenesis, Gastroesophageal reflux, Cleft palate, Open bite, Glossoptosis, ... ORPHA:828
Senior-Boichis Syndrome
Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary differentiation, Hyperechog... ORPHA:84081
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Polyuria, Hypokalemia, Hypercalciuria OMIM:613677
Familial Hyperaldosteronism Type Iii
Nausea, Hypercalciuria, Hypokalemia ORPHA:251274
Williams Syndrome
Wide mouth, Constipation, Microdontia, Carious teeth, Proteinuria, Umbilical hernia, Thick lower ... ORPHA:904
Osteogenesis Imperfecta, Type Viii
Dentinogenesis imperfecta, Inguinal hernia OMIM:610915
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Oncogenic Osteomalacia
Renal phosphate wasting, Hyperphosphaturia, Hypophosphatemia, Hypocalcemia ORPHA:352540
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Nausea, Increased urinary potassium, Hypokalemia ORPHA:231625
Fructose Intolerance, Hereditary
Hypophosphatemia, Transient aminoaciduria, Hyperbilirubinemia, Hyperuricosuria, Proximal renal tu... OMIM:229600
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Vomiting, Renal Fanconi syndrome, Proteinur... ORPHA:436271
Tetrasomy 9P
High palate, Abnormal number of permanent teeth, Cleft palate, Micropenis, Micrognathia, Short ph... ORPHA:3310
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Vomiting, Increased circulating renin level, Penoscrotal hypospadias, Hyponatremia, ... ORPHA:90791
Wilson Disease
Renal tubular dysfunction, Nephrolithiasis, Increased circulating copper concentration, Hyperbili... OMIM:277900
Adrenal Hypoplasia, Congenital
Hyponatremia, Renal salt wasting OMIM:300200
Adrenocortical Hypofunction, Chronic Primary Congenital
Hypernatriuria OMIM:103230
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Carious teeth, Renal amyloidosis, Erosion of oral mucosa, Foot joint contracture, Ankyloglossia, ... ORPHA:79408
Lysosomal Acid Lipase Deficiency
Steatorrhea, Diarrhea, Abnormal urine potassium concentration, Vomiting, Hypertriglyceridemia, Hy... ORPHA:275761
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Nephrolithiasis, Constipation, Elevated urinary vanillylmand... ORPHA:653
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Midshaft hypospadias, Abnormal urine potassium concentration, Vomiting,... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Midshaft hypospadias, Abnormal urine potassium concentration, Vomiting,... ORPHA:289548
Addison Disease
Constipation, Diarrhea, Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalc... ORPHA:85138
Kindler Syndrome
Periodontitis, Carious teeth, Gingivitis, Phimosis, Urethral stenosis, Dysphagia, Oral leukoplakia OMIM:173650
Pallister-Killian Syndrome
Wide mouth, Cleft palate, Delayed eruption of teeth, Tented upper lip vermilion, Umbilical hernia... OMIM:601803
Ectodermal Dysplasia-Skin Fragility Syndrome
Cheilitis, Scarring, Abnormality of the dentition, Urethral stricture, Carious teeth, Chronic dia... ORPHA:158668
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Retrognathia, Micrognathia, Abnormal penis morphology, Hypospadi... ORPHA:2556
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Exocrine pancreatic insufficiency, Gastritis, Meconium ileus, Micrognathia, Diarrhea, Microscopic... OMIM:219721
Opsismodysplasia
Renal phosphate wasting, Hypophosphatemia, Long philtrum OMIM:258480
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Increased urinary 11-deoxycorticosterone level, Long penis, Decreased circulating re... ORPHA:90795
Familial Adenomatous Polyposis
Eruption failure, Lipoma, Supernumerary tooth, Abnormal cementum morphology, Abnormality of the d... ORPHA:733
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Hyperbilirubinemia, 3-Methylglutaric aciduria, Steatorrhea, Vo... OMIM:557000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cheilitis, Inguinal hernia, Abnormality of the upper urinary tract, Camptodactyly of finger, Abno... ORPHA:2273
Singleton-Merten Syndrome 1
Eruption failure, Hypoplasia of the tooth germ, Carious teeth, Hypoplasia of the maxilla, Thin up... OMIM:182250
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Hypocalcemia, Hypoplasia of the primary teeth, Micropenis, Hyp... OMIM:243800
Williams-Beuren Syndrome
Constipation, Microdontia, Umbilical hernia, Open mouth, Thick lower lip vermilion, Bladder diver... OMIM:194050
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Wide mouth, Exocrine pancreatic insufficiency, Congenital diaphragmatic hernia, ... ORPHA:116
Proteus Syndrome
Lipoma, Tooth agenesis, Carious teeth, Long penis, Renal cyst, Abnormal subcutaneous fat tissue d... ORPHA:744
Cystic Fibrosis
Ileus, Exocrine pancreatic insufficiency, Steatorrhea, Meconium ileus, Diarrhea, Hypercalciuria, ... OMIM:219700
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Vomiting, Long penis, Hypernatriuria, Hyponatremia, Elevated urinary ep... ORPHA:90794
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hypernatriuria, Hyperu... ORPHA:90041
Leprechaunism
Reduced subcutaneous adipose tissue, Hypokalemia, Increased circulating renin level, Enlarged kid... ORPHA:508
Multiple Endocrine Neoplasia Type 1
Nephrolithiasis, Melena, Gastroesophageal reflux, Constipation, Hematemesis, Diarrhea, Multiple l... ORPHA:652
Sarcoidosis
Nephrolithiasis, Hypercalciuria, Tubulointerstitial nephritis, Enlargement of parotid gland, Hype... ORPHA:797
Sarcoidosis, Susceptibility To, 1
Hypercalciuria, Inflammation of the large intestine, Abnormal salivary gland morphology OMIM:181000
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Medullary nephrocalcinosis, Vomiting, Hyperphosphaturia, Cortical nephr... 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