Gene Summary

Name:
solute carrier family 24 (sodium/potassium/calcium exchanger), member 4
Synonyms:
NCKX4,  A930002M03Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating cholesterol level Slc24a4tm1b(KOMP)Wtsi HET Early adult 5.62×10-06
increased circulating alkaline phosphatase level Slc24a4tm1b(KOMP)Wtsi HOM Early adult 2.11×10-08
increased circulating HDL cholesterol level Slc24a4tm1b(KOMP)Wtsi HET Early adult 7.77×10-06
enlarged thymus Slc24a4tm1b(KOMP)Wtsi HET Early adult 0.00
decreased prepulse inhibition Slc24a4tm1b(KOMP)Wtsi HOM Early adult 3.81×10-05
decreased red blood cell distribution width Slc24a4tm1b(KOMP)Wtsi HET Early adult 6.02×10-06
increased circulating fructosamine level Slc24a4tm1b(KOMP)Wtsi HET Early adult 7.89×10-05
preweaning lethality, incomplete penetrance Slc24a4tm1b(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 50% (1 of 2)
Embryo N/A homozygote 50% (1 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 50% (1 of 2)
Head N/A homozygote 50% (1 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

19 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

19 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

18 Images

Adult LacZ

LacZ Images Wholemount

9 Images

Human diseases caused by Slc24a4 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 Slc24a4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887

The table below shows human diseases predicted to be associated to Slc24a4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization OMIM:614832
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Dental Ankylosis
Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenesis ORPHA:1077
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification OMIM:125420
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology ORPHA:1653
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth OMIM:614564
Laryngoonychocutaneous Syndrome
Amelogenesis imperfecta OMIM:245660
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Persistence of primary teeth, Hypodontia OMIM:125350
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Atrophic scars, Carious teeth, Oral mucosal blisters ORPHA:79405
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia OMIM:202900
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Anosmia, Obesity OMIM:617885
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Shovel-shaped maxillary central incisors, Increased overbite, Dental crowding OMIM:600907
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormal dental enamel morphology ORPHA:69087
Bardet-Biedl Syndrome 19
Hyposmia, Obesity OMIM:615996
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia, Isolated Congenital
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Abnormal... ORPHA:766
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
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
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology, Malar flattening ORPHA:139474
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Hypodontia OMIM:616029
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Musk, Inability To Smell
Anosmia OMIM:254150
Freesia Flowers, Inability To Smell
Specific anosmia OMIM:229250
Epidermolysis Bullosa, Junctional, Herlitz Type
Enamel hypoplasia, Atrophic scars, Carious teeth OMIM:226700
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Trichoodontoonychial Dysplasia With Bone Deficiency
Enamel hypoplasia, Anodontia OMIM:275450
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Atrophic scars, Scarring alopecia of scalp, Oral mucosal blisters ORPHA:79402
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Stimmler Syndrome
Abnormal dental enamel morphology, Microdontia ORPHA:3199
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Taurodontism
Taurodontia OMIM:272700
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hyposmia, Anosmia OMIM:615267
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Carious teeth, Thick vermilion border ORPHA:363523
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Aural Atresia, Congenital
Hyposmia OMIM:607842
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Inappropriately normal thyroid-stimulating hormone level OMIM:301033
Dermoid Cysts, Familial Frontonasal
Nasal congestion, Anosmia, Deviated nasal septum, Wide nasal bridge OMIM:600679
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion OMIM:613576
Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome
Enamel hypoplasia ORPHA:91133
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture OMIM:203550
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia OMIM:261560
Teeth, Supernumerary
Mesiodens, Supernumerary tooth OMIM:187100
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hyposmia, Anosmia OMIM:614897
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental color, Abnorm... ORPHA:1028
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Anosmia, Depressed nasal bridge OMIM:113480
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, High palate, Mandibular prognathia, Malar flattening OMIM:600991
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth ORPHA:2222
Trichodental Dysplasia
Conical tooth, Odontodysplasia, Hypodontia OMIM:601453
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Enamel hypoplasia, Carious teeth, Scarring alopecia of scalp, Increased connective tissue OMIM:226670
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Periapical tooth abscess, Agenesis of incisor, Enamel hypominera... ORPHA:3352
Localized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Abnormality of dental color, Dental enamel pits, Atypical scarring of skin, Sc... ORPHA:251393
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta ORPHA:71267
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Thick lower lip vermilion, Hypoplasia of the primary teeth, U-Shaped upper lip... OMIM:234250
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Sjogren-Larsson Syndrome
Enamel hypoplasia OMIM:270200
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Hypoplasia of teeth, Abnormality of dental morphology ORPHA:248
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Abnormality of the mandible, Cleft palate OMIM:217150
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:615631
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Eruption failure, Alveo... OMIM:273050
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta
Amelogenesis imperfecta, Delayed eruption of teeth, Hypodontia OMIM:615905
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Anosmia OMIM:614838
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Mandibular prognathia, Microdontia, Widely spaced teeth, Hy... OMIM:601216
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Sitosterolemia 1
Hypercholesterolemia, Chronic hemolytic anemia, Episodic hemolytic anemia, Stomatocytosis, Reticu... OMIM:210250
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia, Obesity OMIM:610628
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia ORPHA:1135
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Chondrodysplasia Punctata 1, X-Linked Recessive
Anosmia, Short nasal septum, Short nose, Depressed nasal bridge OMIM:302950
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
48,Xyyy Syndrome
Enamel hypoplasia, Long philtrum, Irregularly spaced teeth, High palate, Thick lower lip vermilion ORPHA:99329
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth ORPHA:2643
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hyposmia, Anosmia OMIM:612702
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... ORPHA:86841
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Lichtenstein Syndrome
Enamel hypoplasia, Carious teeth, Downturned corners of mouth OMIM:246550
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Micrognathia OMIM:251190
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, Non-... ORPHA:2919
Ameloonychohypohidrotic Syndrome
Abnormal dental enamel morphology, Marked delay in eruption of permanent teeth OMIM:104570
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly OMIM:612526
Indifference To Pain, Congenital, Autosomal Recessive
Hyposmia, Anosmia OMIM:243000
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Widely spaced teeth, Conical tooth OMIM:613573
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Hyposmia, Anosmia OMIM:608720
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Increased LDL cholesterol concentration, Splenomegaly, Elevated circulating... OMIM:616828
Mulibrey Nanism
Enamel hypoplasia, Dental crowding, Hypoplastic frontal sinuses, Hypodontia, Microglossia, Dental... OMIM:253250
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Carious teeth, Microretrognathia, Pierre-Robin sequence, Tooth agenesis,... OMIM:618363
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Peroxisome Biogenesis Disorder 9B
Anosmia OMIM:614879
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Oligodontia, Short mandibular rami, Prominent frontal sinuses, Antegonial notc... OMIM:170390
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosis ORPHA:3019
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia OMIM:613724
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... OMIM:207750
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Fibromatosis, Gingival, With Distinctive Facies
Gingival fibromatosis, Everted lower lip vermilion, Thick vermilion border, Persistence of primar... OMIM:228560
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Enamel hypoplasia, Carious teeth, Scarring alopecia of scalp OMIM:612843
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Everted lower... ORPHA:2025
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Short philtrum, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Xfe Progeroid Syndrome
Enamel hypoplasia, Absence of subcutaneous fat OMIM:610965
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Immunodeficiency 33
Conical tooth, Delayed eruption of teeth, Hypodontia OMIM:300636
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Agenesis of permanent teeth, Abnormality of dental morphology, Everted... ORPHA:2228
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Pulp calcification, Taurodontia OMIM:211900
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Cockayne Syndrome Type 2
Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the primary teeth, Scarring, ... ORPHA:90322
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary... ORPHA:199306
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
Oculocerebrodental Syndrome
Enamel hypoplasia, Oligodontia, Abnormality of the dentition, Microdontia, Retrognathia ORPHA:557003
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Hypoplasia of teeth OMIM:613312
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Bone-marrow foam cells, Vacuolated lymphocytes, Steatorrhea, Thrombocytopen... OMIM:278000
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Short philtrum, Drooling, Flexion contracture, Wide mouth, Thin upper lip verm... OMIM:619293
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Temple Syndrome
Hypercholesterolemia, Cryptorchidism, Hypertriglyceridemia, Decreased testicular size OMIM:616222
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Enamel hypoplasia, Oligodontia, Hypodontia OMIM:607626
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Splenomegaly, Lactescent s... OMIM:238600
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
Huntington Disease
Decreased body mass index, Abnormality of the sense of smell, Weight loss ORPHA:399
Corneodermatoosseous Syndrome
Hypomature dental enamel, Abnormality of the dentition OMIM:122440
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Taurodontia, Everted lower lip vermilion, Abnormality of the d... ORPHA:1515
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Mandibular prognathia, Hypodontia, Bifid uvula, Dens in dente, Macrodontia OMIM:263540
Gastrointestinal Defects And Immunodeficiency Syndrome
Enamel hypoplasia, Omphalocele OMIM:243150
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Enamel hypoplasia, Atrophic scars, Arthrogryposis multiplex congenita OMIM:226730
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia OMIM:244200
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2238
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Oligodontia, Abnormal dental enamel morphology, Scarring alopecia of scalp, Hypodontia ORPHA:59303
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
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
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Decreased serum iron, Anisocytosis, Anemia, Decreased mean corpuscular volume, Po... OMIM:616959
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Johnson Neuroectodermal Syndrome
Anosmia, Choanal atresia, Bulbous nose, Failure to thrive ORPHA:2316
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Malar flattening OMIM:614727
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth OMIM:612462
Odontomicronychial Dysplasia
Premature loss of primary teeth, Abnormality of the dentition, Premature eruption of permanent teeth ORPHA:1811
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet... OMIM:257850
Seckel Syndrome 1
Enamel hypoplasia, Dental crowding, Selective tooth agenesis, Cleft palate, High palate, Dental m... OMIM:210600
Hyperostosis Cranialis Interna
Hyposmia OMIM:144755
Amelogenesis Imperfecta, Type Ig
Delayed eruption of permanent teeth, Amelogenesis imperfecta, Dagger-shaped pulp calcifications, ... OMIM:204690
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Anosmia, Choanal atresia OMIM:147950
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Gorlin Syndrome
Abnormality of the sense of smell, Wide nasal bridge ORPHA:377
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Mandibular prognathia... ORPHA:1133
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Anosmia, Pyriform aperture stenosis, Choanal atresia, Midnasal s... OMIM:147250
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Umbilical hernia, Inguinal hernia, Hypocalcification of dental ... ORPHA:3134
Odontochondrodysplasia
Dentinogenesis imperfecta, Retrognathia, Delayed eruption of teeth ORPHA:166272
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Narrow mouth, Mandibular prognathia, Natal... OMIM:259775
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Anosmia, Hyposmia, Eunuchoid habitus OMIM:308700
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Short nose, Abnormality of the nares ORPHA:1295
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta, Abnormality of the dentition OMIM:610967
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Enamel hypoplasia, Narrow mouth, Atrophic scars, Flexion contracture, Corneal scarring OMIM:226600
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth OMIM:103580
Qazi-Markouizos Syndrome
Drooling, Hypoplasia of teeth, Open mouth, Broad philtrum, High, narrow palate ORPHA:3010
48,Xxyy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:10
Ohdo Syndrome
Long philtrum, Thin vermilion border, Hypoplasia of teeth, Narrow mouth, Smooth philtrum, Microgn... OMIM:249620
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Carious teeth OMIM:604922
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Delayed eruption of teeth, Carious teeth OMIM:277440
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit... ORPHA:1031
Kallmann Syndrome With Spastic Paraplegia
Anosmia, Eunuchoid habitus OMIM:308750
Galactokinase Deficiency
Hypercholesterolemia, Increased level of galactitol in plasma, Hypergalactosemia, Hepatosplenomeg... ORPHA:79237
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Abnormal palate morphology ORPHA:3236
Usher Syndrome Type 2
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:231178
Immunodeficiency 9
Amelogenesis imperfecta, Recurrent aphthous stomatitis, Stomatitis OMIM:612782
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Kohlschutter-Tonz Syndrome-Like
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Delayed eruption of teeth, Drooling, A... OMIM:619229
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Amelogenesis imperfecta, Hypodontia, Hernia, Microdontia, Micrognathia OMIM:617052
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
Cockayne Syndrome Type 1
Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the primary teeth, Scarring, ... ORPHA:90321
Craniolenticulosutural Dysplasia
Long philtrum, Thin vermilion border, Carious teeth, Delayed eruption of teeth, Hypoplasia of tee... ORPHA:50814
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Abnormal dental enamel morphology, Mandibular prognathia, Malar flattening ORPHA:2180
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth ORPHA:94089
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Cog4-Cdg
Thrombocytopenia, Hypercholesterolemia, Hepatosplenomegaly ORPHA:263501
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth OMIM:264700
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Thick ... ORPHA:2107
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Agenesis of permanent teeth, Tongue nodules, Microretrognathia,... OMIM:311200
Oculodentodigital Dysplasia
Enamel hypoplasia, Carious teeth, Taurodontia, Joint contracture of the 5th finger, Selective too... OMIM:164200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hypoplasia of teeth, Narrow mouth, Dental crowding, Flexion contracture, Premature loss of teeth,... OMIM:608612
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Retrognathia OMIM:614576
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Cleidocranial Dysplasia
Enamel hypoplasia, Delayed eruption of primary teeth, Narrow palate, Absent frontal sinuses, Hypo... OMIM:119600
Refsum Disease, Classic
Anosmia OMIM:266500
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Mandibuloacral Dysplasia
Abnormal tongue morphology, Increased intraabdominal fat, Hypoplasia of teeth, Dental crowding, I... ORPHA:2457
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpuscular hemogl... ORPHA:231226
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Anosmia OMIM:601152
Johnson Neuroectodermal Syndrome
Anosmia, Choanal stenosis OMIM:147770
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Long philtrum, Oligodontia, Short philtrum, Hypoplasia of teeth, Narrow mouth, Downturned corners... ORPHA:391408
Dysosteosclerosis
Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:1782
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
Laron Syndrome
Hypercholesterolemia ORPHA:633
Kufor-Rakeb Syndrome
Anosmia, Hyposmia OMIM:606693
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Cholesterol gallstones, Hypertriglyceridemia, Increased LDL cholesterol con... ORPHA:209902
Hydrolethalus
Abnormality of the sense of smell ORPHA:2189
Temtamy Syndrome
Long philtrum, Micrognathia, Hypoplasia of teeth, Dental crowding OMIM:218340
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Inguinal hernia, Umbilical hernia OMIM:312830
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Carious teeth, Abnormal dental enamel morphology, Abnormality of dental morphology, Bilateral cle... ORPHA:3253
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Short Syndrome
Abnormal dental enamel morphology, Abnormality of the zygomatic bone, Lipodystrophy, Abnormality ... ORPHA:3163
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Dysostosis, Stanescu Type
Macroglossia, Carious teeth, Abnormal dental enamel morphology, Abnormal palate morphology, Abnor... ORPHA:1798
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth ORPHA:289157
Cleidocranial Dysplasia
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Mandibula... ORPHA:1452
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Anosmia, Chronic rhinitis OMIM:244400
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal dental enamel morphology, Mandibular prognathia, Hypodontia, Cleft palate, Vaginal herni... ORPHA:2916
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental morphology ORPHA:1458
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enamel hypoplasia, Bifid uvula, Wide mouth, Abnormality of the dentition OMIM:615802
Ichthyosis And Male Hypogonadism
Anosmia OMIM:308200
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Widely spaced teeth, Microdontia, Hypoplasia of teeth, Cleft palate ORPHA:2728
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hypoplasia of teeth, Dental crowding, Increased adipose tissue around the neck, Flexion contractu... OMIM:248370
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia, Polycystic ovaries ORPHA:528
Kilquist Syndrome
Wide mouth, Xerostomia, Mandibular prognathia, Hypoplasia of teeth OMIM:619080
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Cryptorchidism ORPHA:96184
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Refsum Disease
Anosmia ORPHA:773
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi... ORPHA:247585
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Pde4D Haploinsufficiency Syndrome
Long philtrum, Abnormal dental enamel morphology, Short philtrum, Mandibular prognathia, Thin upp... ORPHA:439822
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Polycystic ovaries, Hypertriglyceridemia, Anemia, Splenomegaly, Elevated ci... ORPHA:264580
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Decreased mean corpuscul... OMIM:618278
Acrootoocular Syndrome
Delayed eruption of teeth, Dental malocclusion, Grayish enamel, Anodontia, Supernumerary tooth, H... ORPHA:2980
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia OMIM:240300
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Brittle Cornea Syndrome 1
Atypical scarring of skin, Dentinogenesis imperfecta OMIM:229200
48,Xxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:96263
Mucopolysaccharidosis Type 4
Carious teeth, Abnormal dental enamel morphology, Wide mouth, Grayish enamel, Abnormality of the ... ORPHA:582
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat... ORPHA:64753
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Polycystic ovaries, Hypertriglyceridemia, Splenomegaly, Elevated circulatin... ORPHA:370
8Q21.11 Microdeletion Syndrome
Abnormality of the sense of smell, Underdeveloped nasal alae, Wide nose ORPHA:284160
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta, Abnormality of the dentition OMIM:610968
Odontochondrodysplasia 1
Long philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth OMIM:184260
Trichothiodystrophy
Enamel hypoplasia, Carious teeth, High, narrow palate, Absence of subcutaneous fat, Umbilical her... ORPHA:33364
Septo-Optic Dysplasia Spectrum
Anosmia, Obesity ORPHA:3157
Arthrogryposis And Ectodermal Dysplasia
Oligodontia, Arthrogryposis multiplex congenita, Abnormal dental enamel morphology, Atypical scar... OMIM:601701
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Recurrent aphthous stomatitis, Stomatitis OMIM:212750
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Retrognathia, Microdontia OMIM:210720
Cole-Carpenter Syndrome 2
Microretrognathia, High palate, Dentinogenesis imperfecta OMIM:616294
Kallmann Syndrome
Anosmia, Hyposmia, Obesity ORPHA:478
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hypercholesterolemia, Hypopituitarism ORPHA:90065
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Goiter, Macroorchidism, Pituitary hypothyroidism, Neonatal hyperbilirubinem... ORPHA:90674
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia ORPHA:2050
49,Xxxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:96264
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Oral mucosal blisters ORPHA:79403
Campomelic Dysplasia
Abnormality of the sense of smell, Depressed nasal bridge ORPHA:140
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Atrophic scars, Scarring, Oral mucosal blisters, Smooth tongue ORPHA:79396
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Micrognathia OMIM:259420
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... ORPHA:412
Congenital Hypothyroidism
Anosmia, Depressed nasal ridge ORPHA:442
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Submucous cleft soft palate, Non-mi... ORPHA:1071
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Single naris, Hyposmia, Absent nares ORPHA:2250
Codas Syndrome
Enamel hypoplasia, Delayed eruption of teeth, Omphalocele OMIM:600373
Hereditary Late-Onset Parkinson Disease
Hyposmia, Weight loss ORPHA:411602
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Abnormality of the dentition, Taurodo... ORPHA:3220
Orofaciodigital Syndrome Type 2
Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules, Natal ... ORPHA:2751
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Decreased testicular size, Hypertriglyceridemia OMIM:610644
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Everted lower lip vermilion, Anodontia, Hypodontia, Microdontia, High palate, ... OMIM:218330
Nail-Patella Syndrome
Enamel hypoplasia, Contracture of the distal interphalangeal joint of the fingers, Flexion contra... ORPHA:2614
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Hypoplasia of teeth OMIM:234050
Sanjad-Sakati Syndrome
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Abnormality of the denti... ORPHA:2323
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Long philtrum, Thin vermilion border, Localized hypoplasia of dental enamel, Conical incisor, Max... ORPHA:73223
Usher Syndrome
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:886
Mucopolysaccharidosis, Type Iva
Carious teeth, Mandibular prognathia, Wide mouth, Grayish enamel, Inguinal hernia, Widely spaced ... OMIM:253000
Mucopolysaccharidosis, Type Ivb
Carious teeth, Mandibular prognathia, Wide mouth, Grayish enamel, Inguinal hernia, Widely spaced ... OMIM:253010
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hypocalcification of dental enamel ORPHA:169090
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Periodontitis, Delayed eruption of permanent teeth, Dentinogenesis imperfecta, Retrognathia, Prem... OMIM:619269
Young-Onset Parkinson Disease
Hyposmia ORPHA:2828
Cenani-Lenz Syndrome
Short philtrum, Abnormal dental enamel morphology, Hypodontia, High, narrow palate, Malar flattening ORPHA:3258
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Abnormal dental enamel morphology, Inguinal hernia, Retrognathia, Hypoplasia of the zygomatic bon... ORPHA:1812
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Abnormality of dental morphology, Bra... ORPHA:861
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hemophagocytosis, Hyperglutam... ORPHA:470
Koolen-De Vries Syndrome
Abnormal dental enamel morphology, Narrow palate, Everted lower lip vermilion, Abnormality of the... ORPHA:96169
Congenital Disorder Of Glycosylation, Type Iim
Enamel hypoplasia, Short philtrum, Open mouth, Mandibular prognathia, Thick vermilion border, Exa... OMIM:300896
Holoprosencephaly
Depressed nasal tip, Anosmia, Choanal atresia, Failure to thrive in infancy, Abnormality of neuro... ORPHA:2162
Costello Syndrome
Macroglossia, Abnormal dental enamel morphology, Narrow palate, Abnormality of the dentition, Thi... ORPHA:3071
Corneodermatoosseous Syndrome
Gingivitis, Carious teeth, Abnormal dental enamel morphology ORPHA:3194
Kallmann Syndrome-Heart Disease Syndrome
Total anosmia, Partial anosmia ORPHA:2326
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Abnormal salivary gland morp... ORPHA:2363
Craniolenticulosutural Dysplasia
Long philtrum, Carious teeth, Delayed eruption of teeth, Hypoplasia of teeth, Wide mouth, Smooth ... OMIM:607812
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Delayed eruption of teeth ORPHA:79444
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Osteogenesis Imperfecta, Type X
Dentinogenesis imperfecta, Inguinal hernia, Micrognathia, Malar flattening OMIM:613848
3M Syndrome
Long philtrum, Abnormal dental enamel morphology, Delayed eruption of teeth, Everted lower lip ve... ORPHA:2616
Waardenburg Syndrome, Type 4C
Anosmia OMIM:613266
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental enamel morphology, Abnormality of dental morphology, Abnormal palate morphology, ... ORPHA:85199
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Amelogenesis imperfecta OMIM:610319
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Bone-marrow foam cells, Vacuolated lymphocytes, Hyponatremia, ... ORPHA:275761
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Hypoplasia of teeth,... ORPHA:2909
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
Stuve-Wiedemann Syndrome
Pursed lips, Abnormal dental enamel morphology, Flexion contracture of toe, Malar flattening, Kne... OMIM:601559
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Cockayne Syndrome
Enamel hypoplasia, Carious teeth, Delayed eruption of primary teeth, Agenesis of permanent teeth,... ORPHA:191
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Moebius Syndrome
Abnormality of the sense of smell ORPHA:570
8P11.2 Deletion Syndrome
Anosmia, Depressed nasal bridge ORPHA:251066
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Bifid uvula, Micrognathia, Hypoplasia of the tooth germ, Contracture of the proximal interphalang... ORPHA:293967
Oculodentodigital Dysplasia
Camptodactyly of finger, Carious teeth, Abnormal dental enamel morphology, Taurodontia, Mandibula... ORPHA:2710
Chronic Mucocutaneous Candidiasis
Abnormal lip morphology, Abnormal dental enamel morphology, Abnormality of the mouth, Cheilitis ORPHA:1334
Acrocallosal Syndrome
Long philtrum, Thin vermilion border, Short philtrum, Hypoplasia of teeth, Open mouth, Microretro... OMIM:200990
Congenital Erythropoietic Porphyria
Hemolytic anemia, Increased erythrocyte protoporphyrin concentration, Reticulocytosis, Reduced ha... ORPHA:79277
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Inguinal hernia, Failure of eruption of permanent teeth, Cleft palate OMIM:272460
Bosma Arhinia Microphthalmia Syndrome
Hypoplasia of teeth, Inguinal hernia, Cleft lip, Cleft palate, High palate, Dental malocclusion, ... OMIM:603457
Cranioectodermal Dysplasia 3
Widely spaced teeth, Everted lower lip vermilion, Micrognathia, Hypoplasia of teeth OMIM:614099
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Delayed eruption of teeth ORPHA:79443
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Agenesis of permanent teeth, Hypoplasia of teeth, Mandibular prognathi... OMIM:268400
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Orofaciodigital Syndrome Type 1