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
decreased red blood cell distribution width Slc24a4tm1b(KOMP)Wtsi HET Early adult 6.02×10-06
increased circulating alkaline phosphatase level Slc24a4tm1b(KOMP)Wtsi HOM Early adult 2.11×10-08
increased circulating cholesterol level Slc24a4tm1b(KOMP)Wtsi HET Early adult 5.62×10-06
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
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
decreased prepulse inhibition Slc24a4tm1b(KOMP)Wtsi HOM Early adult 3.81×10-05

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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 0.77% (4 of 517)
aorta 0.19% (1 of 522)
bone 0.0%
brain 0.78% (4 of 512)
brainstem 0.4% (2 of 503)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cerebellum 0.57% (3 of 527)
cerebral cortex 0.2% (1 of 497)
esophagus 1.41% (5 of 354)
eye 0.0%
gall bladder 0.0%
heart 0.2% (1 of 510)
hippocampus 0.58% (3 of 516)
hypothalamus 0.2% (1 of 509)
kidney 3.02% (15 of 497)
large intestine 1.96% (10 of 511)
liver 0.0%
lower urinary tract 0.2% (1 of 502)
lung 0.39% (2 of 512)
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.2% (1 of 512)
oral epithelium 0.0%
ovary 0.19% (1 of 523)
oviduct 0.0%
pancreas 0.96% (5 of 520)
parathyroid gland 0.21% (1 of 480)
peripheral nervous system 0.4% (2 of 505)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.14% (11 of 515)
skeletal muscle 0.0%
skin 0.19% (1 of 513)
small intestine 1.37% (7 of 511)
spinal cord 0.58% (3 of 518)
spleen 0.59% (3 of 511)
stomach 2.51% (13 of 517)
striatum 0.39% (2 of 510)
testis 0.98% (5 of 511)
thymus 0.19% (1 of 513)
thyroid gland 3.08% (16 of 519)
trachea 0.59% (3 of 510)
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 1.5% (6 of 400)
ear 0.26% (1 of 392)
embryo 0.0%
eye 0.26% (1 of 392)
footplate 0.25% (1 of 397)
forebrain 0.0%
forelimb 0.25% (1 of 399)
handplate 0.25% (1 of 404)
head 1.04% (4 of 383)
heart 0.25% (1 of 403)
hindbrain 1.22% (5 of 410)
hindlimb 0.0%
liver 0.0%
lung 0.26% (1 of 389)
mandibular process 0.26% (1 of 391)
maxillary process 0.0%
midbrain 0.25% (1 of 401)
oral cavity 0.24% (1 of 415)
skin 0.25% (1 of 396)
tail 0.0%
tail somite group 0.25% (1 of 401)

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

X-ray

XRay Images Whole Body Lateral Orientation

19 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

18 Images

Embryo LacZ

LacZ images wholemount

8 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
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia 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
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion, Enamel hypoplasia 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, Anterior open-bite malocclusion, Abnormal dental enamel morphology OMIM:612529
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Amelogenesis Imperfecta, Type If
Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia OMIM:616270
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... OMIM:125500
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Taurodontia, Generalized microdontia OMIM:104530
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Dental Ankylosis
Tooth agenesis, Abnormal dental enamel morphology, Mandibular prognathia ORPHA:1077
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Amelogenesis imperfecta, Enamel hypoplasia OMIM:603641
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... OMIM:618386
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Enamel hypoplasia OMIM:614564
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta OMIM:245660
Dens Evaginatus
Abnormality of the dentition, Talon cusp OMIM:125280
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Odontodysplasia, Abnormal dental root morphology, Yellow-brown d... ORPHA:49042
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Oral mucosal blisters, Enamel hypoplasia ORPHA:79406
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Oral mucosal blisters, Atrophic scars, Enamel hypoplasia ORPHA:79405
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia OMIM:202900
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Gigantiform Cementoma, Familial
Cementoma, Multiple impacted teeth, 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
Shovel-shaped maxillary central incisors, Dental crowding, Increased overbite, Enamel hypoplasia OMIM:600907
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Bardet-Biedl Syndrome 19
Hyposmia, Obesity OMIM:615996
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... ORPHA:766
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Micrognathia, Malar flat... OMIM:129540
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia OMIM:616029
17Q11.2 Microduplication Syndrome
Thin vermilion border, Malar flattening, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:139474
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Musk, Inability To Smell
Anosmia OMIM:254150
Freesia Flowers, Inability To Smell
Specific anosmia OMIM:229250
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Atrophic scars, Enamel hypoplasia OMIM:226700
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... ORPHA:83451
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Trichoodontoonychial Dysplasia With Bone Deficiency
Anodontia, Enamel hypoplasia OMIM:275450
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Oral mucosal blisters, Atrophic scars, Enamel hypoplasia ORPHA:79402
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Stimmler Syndrome
Microdontia, Abnormal dental enamel morphology ORPHA:3199
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Hypodontia, ... ORPHA:2972
Taurodontism
Taurodontia OMIM:272700
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hyposmia, Anosmia OMIM:615267
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Thick vermilion border, Carious teeth, Enamel hypoplasia ORPHA:363523
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Hypercholesterolemia OMIM:301033
Aural Atresia, Congenital
Hyposmia OMIM:607842
Dermoid Cysts, Familial Frontonasal
Nasal congestion, Deviated nasal septum, Anosmia, Wide nasal bridge OMIM:600679
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia OMIM:613576
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia OMIM:261560
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture OMIM:203550
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Yellow-brown discoloration of the teeth, ... ORPHA:1028
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hyposmia, Anosmia OMIM:614897
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Depressed nasal bridge, Anosmia OMIM:113480
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Cryptorchidism, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth ORPHA:2222
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Malar flattening, Mandibular prognathia, Enamel hypoplasia OMIM:600991
Trichodental Dysplasia
Odontodysplasia, Hypodontia, Conical tooth OMIM:601453
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... OMIM:224120
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Atypical scarring of skin, Enamel hypoplasia, Scarring alopecia of scalp, Lim... ORPHA:251393
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Microdontia, Widely spac... ORPHA:3352
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate, Abnormal mandible morphology, Arthrogryposis multiplex congenita OMIM:217150
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Scarring alopecia of scalp, Carious teeth, Increased connective tissue, Enamel hypoplasia OMIM:226670
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, U-Shaped upper lip vermilion, Thick lower lip vermilion, Microdontia of primar... OMIM:234250
Sjogren-Larsson Syndrome
Enamel hypoplasia OMIM:270200
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:71267
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Hypoplasia of teeth, Abnormality of dental morphology ORPHA:248
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Otodental Syndrome
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... ORPHA:2791
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate ... OMIM:615631
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Conjugated hyperb... OMIM:616860
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth OMIM:615905
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Anosmia OMIM:614838
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla... OMIM:601216
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, ... OMIM:273050
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia, Obesity OMIM:610628
Sitosterolemia 1
Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circulating sitosterol concentratio... OMIM:210250
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Enamel hypoplasia OMIM:612463
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Abnormality of the sense of smell, Aplasia/Hypoplasia involving the nose, Choanal atresia ORPHA:1135
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nasal septum, Depressed nasal bridge, Anosmia, Short nose OMIM:302950
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
48,Xyyy Syndrome
High palate, Long philtrum, Enamel hypoplasia, Thick lower lip vermilion, Irregularly spaced teeth ORPHA:99329
Microcephalic Primordial Dwarfism, Toriello Type
Downturned corners of mouth, Enamel hypoplasia ORPHA:2643
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hyposmia, Anosmia OMIM:612702
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Pili Torti
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:2889
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Lichtenstein Syndrome
Carious teeth, Downturned corners of mouth, Enamel hypoplasia OMIM:246550
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Bone marrow hypocellularity, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Ab... ORPHA:86841
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Indifference To Pain, Congenital, Autosomal Recessive
Hyposmia, Anosmia OMIM:243000
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Non-midline cleft lip, Enamel hypoplasia, Cleft soft palate... ORPHA:2919
Microcephalic Primordial Dwarfism, Toriello Type
Micrognathia, Enamel hypoplasia OMIM:251190
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hypertriglyceridemia OMIM:612526
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Hyposmia, Anosmia OMIM:608720
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Pseudohypoaldosteronism Type 2
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:757
Cholesteryl Ester Storage Disease
Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Decreased circulating ceruloplasmin conce... OMIM:616828
Ectodermal Dysplasia-Syndactyly Syndrome 1
Widely spaced teeth, Enamel hypoplasia, Conical tooth OMIM:613573
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Pierre-Robin sequence, Amelogenesis imperfecta, High palate, Carious teeth, Micrognathia, Inguina... OMIM:618363
Mulibrey Nanism
Hypoplastic frontal sinuses, Enamel hypoplasia, Hypodontia, Microglossia, Absent frontal sinuses,... OMIM:253250
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Decreased ci... OMIM:207750
Peroxisome Biogenesis Disorder 9B
Anosmia OMIM:614879
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia OMIM:613724
Ramon Syndrome
Narrow palate, Gingival fibromatosis, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:3019
Fibromatosis, Gingival, With Distinctive Facies
High palate, Gingival fibromatosis, Everted lower lip vermilion, Delayed eruption of permanent te... OMIM:228560
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia OMIM:612843
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Hyperbilirubinemia, Increased total iron binding capacity, Abnormal erythro... ORPHA:98870
Naegeli-Franceschetti-Jadassohn Syndrome
Enamel hypoplasia, Carious teeth, Supernumerary tooth, Yellow-brown discoloration of the teeth, A... ORPHA:69087
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Delayed eruption of teeth, Gingival fibromatosis, Everted lower lip vermilion, Exagg... ORPHA:2025
Immunodeficiency 33
Hypodontia, Delayed eruption of teeth, Conical tooth OMIM:300636
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Prominent frontal sinuses, Enamel hypoplasia, Oligodontia, Antegonial notching of ma... OMIM:170390
Hypodontia-Dysplasia Of Nails Syndrome
Agenesis of permanent teeth, Delayed eruption of teeth, Conical tooth, Hypodontia, Everted lower ... ORPHA:2228
Cockayne Syndrome Type 2
Flexion contracture, Widely spaced primary teeth, Enamel hypoplasia, Delayed eruption of primary ... ORPHA:90322
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Taurodontia, Enamel hypoplasia, Pulp calcification OMIM:211900
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, Conical tooth, Oligodontia, Scarring alopecia of scalp, Microdontia, Malar fla... OMIM:618727
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Oculocerebrodental Syndrome
Enamel hypoplasia, Oligodontia, Microdontia, Retrognathia, Abnormality of the dentition ORPHA:557003
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Hypoplasia of teeth OMIM:613312
Blepharophimosis-Impaired Intellectual Development Syndrome
Short philtrum, Flexion contracture, Drooling, Enamel hypoplasia, Microdontia, Widely spaced teet... OMIM:619293
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Temple Syndrome
Cryptorchidism, Decreased testicular size, Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Oligodontia, Hypodontia, Enamel hypoplasia OMIM:607626
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... OMIM:238600
Rh Deficiency Syndrome
Reticulocytosis, Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Spherocytosis, Hyperbilirub... ORPHA:71275
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Oligodontia, Hypodontia, Abnormal dental enamel morphology, Scarring alopecia of scalp ORPHA:59303
Corneodermatoosseous Syndrome
Abnormality of the dentition, Hypomature dental enamel OMIM:122440
Cranioectodermal Dysplasia
Hypodontia, Microdontia, Everted lower lip vermilion, Abnormal dental enamel morphology, Abnormal... ORPHA:1515
Huntington Disease
Abnormality of the sense of smell, Weight loss, Decreased body mass index ORPHA:399
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hyposmia, Anosmia, Choanal atresia OMIM:147950
Pycnodysostosis
High palate, Enamel hypoplasia, Hypodontia, Carious teeth, Micrognathia, Hypoplasia of the maxill... ORPHA:763
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Atrophic scars, Arthrogryposis multiplex congenita, Enamel hypoplasia OMIM:226730
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia OMIM:244200
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Bifid uvula, Enamel hypoplasia, Hypodontia, Mandibular prognathia, Dens in dente, Macrodontia OMIM:263540
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Po... OMIM:616959
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Pierre-Robin sequence, Enamel hypoplasia, Misalignment of incisors, Oligodontia, Hypodontia, Dent... OMIM:619184
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Lysosomal Acid Lipase Deficiency
Leukopenia, Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Decreased HDL cholesterol con... OMIM:278000
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Malar flattening OMIM:614727
Odontomicronychial Dysplasia
Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormality of the dentition ORPHA:1811
Amelogenesis Imperfecta, Type Ig
Amelogenesis imperfecta, Delayed eruption of permanent teeth, Dagger-shaped pulp calcifications, ... OMIM:204690
Johnson Neuroectodermal Syndrome
Failure to thrive, Anosmia, Bulbous nose, Choanal atresia ORPHA:2316
Qazi-Markouizos Syndrome
Drooling, Open mouth, Hypoplasia of teeth, High, narrow palate, Broad philtrum ORPHA:3010
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Enamel hypoplasia OMIM:612462
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Enamel hypoplasia, Malar flattening, Bilateral cleft lip and palate, Thin upper lip ... OMIM:618874
Seckel Syndrome 1
High palate, Dental malocclusion, Enamel hypoplasia, Micrognathia, Selective tooth agenesis, Dent... OMIM:210600
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Hypodontia, Agenesis of premolar, Selective tooth agenesis, Aplasia of the maxilla, ... OMIM:313500
Hyperostosis Cranialis Interna
Hyposmia OMIM:144755
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hyposmia, Anosmia, Eunuchoid habitus OMIM:308700
Oculodentodigital Dysplasia, Autosomal Recessive
Narrow mouth, Long philtrum, Delayed eruption of teeth, Micrognathia, Hypoplasia of teeth, Hypopl... OMIM:257850
Aredyld Syndrome
Narrow mouth, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology, Mandibul... ORPHA:1133
Marcus-Gunn Syndrome
Abnormality of the sense of smell, Choanal atresia ORPHA:91412
Raine Syndrome
Narrow mouth, High palate, Enamel hypoplasia, Microdontia, Micrognathia, Natal tooth, Malar flatt... OMIM:259775
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
Gorlin Syndrome
Abnormality of the sense of smell, Wide nasal bridge ORPHA:377
Scarf Syndrome
Long philtrum, Enamel hypoplasia, Inguinal hernia, Hypocalcification of dental enamel, Umbilical ... ORPHA:3134
Solitary Median Maxillary Central Incisor
Pyriform aperture stenosis, Anosmia, Midnasal stenosis, Choanal atresia, Abnormal nasopharynx mor... OMIM:147250
Bardet-Biedl Syndrome 17
Hyposmia, Anosmia, Obesity OMIM:615994
Odontochondrodysplasia
Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia ORPHA:166272
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Abnormality of the nares, Short nose ORPHA:1295
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Enamel hypoplasia OMIM:103580
Ohdo Syndrome
Narrow mouth, Long philtrum, Widely spaced teeth, Hypoplasia of teeth, Micrognathia, Smooth philt... OMIM:249620
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Narrow mouth, Flexion contracture, Corneal scarring, Enamel hypoplasia, Atrophic scars OMIM:226600
Kallmann Syndrome With Spastic Paraplegia
Anosmia, Eunuchoid habitus OMIM:308750
48,Xxyy Syndrome
Delayed eruption of teeth, Open bite, Carious teeth, Thick lower lip vermilion, Inguinal hernia, ... ORPHA:10
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Carious teeth OMIM:604922
Usher Syndrome Type 2
Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology ORPHA:231178
Galactokinase Deficiency
Hypergalactosemia, Hepatosplenomegaly, Hypercholesterolemia, Increased level of galactitol in pla... ORPHA:79237
Kohlschutter-Tonz Syndrome-Like
Amelogenesis imperfecta, Delayed eruption of teeth, Drooling, Enamel hypoplasia, Carious teeth, W... OMIM:619229
Enamel-Renal Syndrome
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... ORPHA:1031
Bone Marrow Failure Syndrome 3
Amelogenesis imperfecta, Enamel hypoplasia, Hernia, Hypodontia, Microdontia, Micrognathia OMIM:617052
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal palate morphology, Abnormal dental enamel morphology ORPHA:3236
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
Immunodeficiency 9
Amelogenesis imperfecta, Stomatitis, Recurrent aphthous stomatitis OMIM:612782
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Delayed eruption of teeth, Enamel hypoplasia OMIM:277440
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Enamel hypoplasia OMIM:614576
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Craniolenticulosutural Dysplasia
High palate, Long philtrum, Delayed eruption of teeth, Carious teeth, Microdontia, Hypoplasia of ... ORPHA:50814
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Widely spaced primary teeth, Enamel hypoplasia, An... ORPHA:90321
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Enamel hypoplasia ORPHA:94089
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia, Hypercholesterolemia ORPHA:263501
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Hypochromia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concentration, Hypergalacto... ORPHA:247598
Oculodentodigital Dysplasia
Broad alveolar ridges, Cleft upper lip, Enamel hypoplasia, Carious teeth, Microdontia, Joint cont... OMIM:164200
Hall-Riggs Syndrome
Thick vermilion border, Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned ... ORPHA:2107
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Enamel hypoplasia OMIM:264700
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Malar flattening, Abnormal dental enamel morphology, Mandibular prognathia ORPHA:2180
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow mouth, High palate, Flexion contracture, Decreased adipose tissue around neck, Loss of tru... OMIM:608612
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Refsum Disease, Classic
Anosmia OMIM:266500
Temtamy Syndrome
Hypoplasia of teeth, Dental crowding, Long philtrum, Micrognathia OMIM:218340
Cleidocranial Dysplasia
High palate, Absent paranasal sinuses, Hypoplastic frontal sinuses, Enamel hypoplasia, Supernumer... OMIM:119600
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Hypopituitarism, Anisocy... ORPHA:231226
Mandibuloacral Dysplasia
High palate, Abnormal tongue morphology, Increased subcutaneous truncal adipose tissue, Contractu... ORPHA:2457
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Anosmia OMIM:601152
Orofaciodigital Syndrome I
Tongue nodules, High palate, Agenesis of permanent teeth, Cleft upper lip, Enamel hypoplasia, Lob... OMIM:311200
Johnson Neuroectodermal Syndrome
Choanal stenosis, Anosmia OMIM:147770
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Narrow mouth, Short philtrum, Long philtrum, Oligodontia, Dorsocervical fat pad, Micrognathia, Hy... ORPHA:391408
Dysosteosclerosis
Craniofacial hyperostosis, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:1782
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Laron Syndrome
Hypercholesterolemia ORPHA:633
Specific Granule Deficiency 2
Amelogenesis imperfecta, Tooth malposition, Conical tooth OMIM:617475
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Cholesterol gallstones, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hyperchole... ORPHA:209902
Hydrolethalus
Abnormality of the sense of smell ORPHA:2189
Kufor-Rakeb Syndrome
Hyposmia, Anosmia OMIM:606693
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Abnormality of the dentition, Wide mouth, Bifid uvula, Enamel hypoplasia OMIM:615802
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Ciliary Dyskinesia, Primary, 1
Anosmia, Nasal polyposis, Chronic rhinitis, Recurrent bronchitis OMIM:244400
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Hypodontia, Carious teeth, Micrognathia, Abnormality of dental morphology, Abnor... ORPHA:3253
Short Syndrome
Lipodystrophy, Microdontia, Abnormal mandible morphology, Inguinal hernia, Malar flattening, Abno... ORPHA:3163
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Scarf Syndrome
Inguinal hernia, Umbilical hernia, Long philtrum, Enamel hypoplasia OMIM:312830
Dysostosis, Stanescu Type
Abnormal palate morphology, Carious teeth, Macroglossia, Hypoplasia of the maxilla, Abnormal dent... ORPHA:1798
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vaginal hernia, Hypodontia, Abnormal dental enamel morphology, Mandibular prognathia, Macrodontia... ORPHA:2916
Codas Syndrome
Abnormality of dental morphology, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:1458
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enamel hypoplasia ORPHA:289157
Cleidocranial Dysplasia
Sinusitis, Delayed eruption of teeth, Open bite, Carious teeth, Supernumerary tooth, High, narrow... ORPHA:1452
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormality of the sense of smell OMIM:228300
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Xfe Progeroid Syndrome
Absence of subcutaneous fat, Corneal scarring, Premature loss of teeth, Enamel hypoplasia OMIM:610965
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Increased serum bile acid concentration, Hypercholesterolemia, Bile d... OMIM:619662
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microdontia, Widely spaced teeth, Cleft palate, Hypoplasia of teeth ORPHA:2728
Ichthyosis And Male Hypogonadism
Anosmia OMIM:308200
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Hypercholesterolemia ORPHA:96184
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, High palate, Flexion contracture, Increased facial adipose tissue, Micrognathia, H... OMIM:248370
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Acute hyperamm... ORPHA:247585
Pde4D Haploinsufficiency Syndrome
Short philtrum, Long philtrum, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Abnorma... ORPHA:439822
Congenital Generalized Lipodystrophy
Polycystic ovaries, Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Refsum Disease
Anosmia ORPHA:773
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Polycystic ovaries, Hypercholesterolemia, Splenomegaly, Elevated circulating creatine kinase conc... ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Polycystic ovaries, Hypercholesterolemia, Splenomegaly, Elevated circulating creatine kinase conc... ORPHA:79240
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Enamel hypoplasia OMIM:243150
Kilquist Syndrome
Xerostomia, Hypoplasia of teeth, Mandibular prognathia, Wide mouth OMIM:619080
48,Xxxy Syndrome
Delayed eruption of teeth, Open bite, Carious teeth, Inguinal hernia, Abnormal dental enamel morp... ORPHA:96263
Mucopolysaccharidosis Type 4
Hernia, Carious teeth, Abnormal dental enamel morphology, Grayish enamel, Abnormality of the dent... ORPHA:582
Osteogenesis Imperfecta, Type Xi
Abnormality of the dentition, Dentinogenesis imperfecta OMIM:610968
Acrootoocular Syndrome
Delayed eruption of teeth, Supernumerary tooth, Micrognathia, High, narrow palate, Grayish enamel... ORPHA:2980
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Polycystic ovaries, Hypercholesterolemia, Splenomegaly, Elevated circulating creatine kinase conc... ORPHA:370
8Q21.11 Microdeletion Syndrome
Wide nose, Abnormality of the sense of smell, Underdeveloped nasal alae ORPHA:284160
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Atypical scarring of skin OMIM:229200
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia OMIM:240300
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Chronic hemolytic anemia, Hemolytic anemia, Ellip... OMIM:618278
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Trichothiodystrophy
Multiple joint contractures, Enamel hypoplasia, Carious teeth, High, narrow palate, Absence of su... ORPHA:33364
Septo-Optic Dysplasia Spectrum
Anosmia, Obesity ORPHA:3157
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Long philtrum, Delayed eruption of teeth OMIM:184260
Cole-Carpenter Syndrome 2
High palate, Dentinogenesis imperfecta, Microretrognathia OMIM:616294
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Microdontia, Retrognathia, Enamel hypoplasia OMIM:210720
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Increased hematocrit, Increased mean cor... ORPHA:90041
Arthrogryposis And Ectodermal Dysplasia
Cleft upper lip, Atypical scarring of skin, Oligodontia, Abnormal dental enamel morphology, Arthr... OMIM:601701
Celiac Disease, Susceptibility To, 1
Stomatitis, Enamel hypoplasia, Recurrent aphthous stomatitis OMIM:212750
Cockayne Syndrome A
Dental malocclusion, Atypical scarring of skin, Enamel hypoplasia, Carious teeth, Hypoplasia of t... OMIM:216400
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Decreased thyroid-stimulating hormone level, Increased circulating prolacti... ORPHA:90674
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Leukocytosis, Hypercholesterolemia ORPHA:90065
49,Xxxxy Syndrome
Delayed eruption of teeth, Open bite, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:96264
Cole-Carpenter Syndrome
Abnormal dental enamel morphology, Delayed eruption of teeth, Micrognathia ORPHA:2050
Kallmann Syndrome
Hyposmia, Anosmia, Obesity ORPHA:478
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration,... ORPHA:412
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Submucous cleft soft palate, Delayed eruption of teeth, Non-midline cleft lip, Conical tooth, Hyp... ORPHA:1071
Junctional Epidermolysis Bullosa With Pyloric Atresia
Oral mucosal blisters, Enamel hypoplasia ORPHA:79403
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Micrognathia OMIM:259420
Campomelic Dysplasia
Abnormality of the sense of smell, Depressed nasal bridge ORPHA:140
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Craniolenticulosutural Dysplasia
High palate, Bifid uvula, Long philtrum, Delayed eruption of teeth, Carious teeth, Hypoplasia of ... OMIM:607812
Hereditary Late-Onset Parkinson Disease
Hyposmia, Weight loss ORPHA:411602
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hyposmia, Absent nares, Anosmia, Single naris ORPHA:2250
Congenital Hypothyroidism
Anosmia, Depressed nasal ridge ORPHA:442
Cranioectodermal Dysplasia 1
High palate, Enamel hypoplasia, Hypodontia, Microdontia, Everted lower lip vermilion, Widely spac... OMIM:218330
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Oral mucosal blisters, Smooth tongue, Enamel hypoplasia, Scarring, Atrophic scars ORPHA:79396
Nail-Patella Syndrome
Achilles tendon contracture, Flexion contracture, Contracture of the distal interphalangeal joint... ORPHA:2614
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Codas Syndrome
Omphalocele, Delayed eruption of teeth, Enamel hypoplasia OMIM:600373
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Decreased testicular size, Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypocalcification of dental enamel, Amelogenesis imperfecta ORPHA:169090
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of the dentition, Abnormal dental enamel morphology, Taurodontia, Camptodactyly of fi... ORPHA:3220
Trichothiodystrophy 4, Nonphotosensitive
Hypoplasia of teeth, Retrognathia OMIM:234050
Mucopolysaccharidosis, Type Iva
Carious teeth, Widely spaced teeth, Inguinal hernia, Grayish enamel, Mandibular prognathia, Wide ... OMIM:253000
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Orofaciodigital Syndrome Type 2
Tongue nodules, High palate, Submucous cleft soft palate, Unilateral alveolar cleft of maxilla, V... ORPHA:2751
Mucopolysaccharidosis, Type Ivb
Carious teeth, Widely spaced teeth, Inguinal hernia, Grayish enamel, Mandibular prognathia, Wide ... OMIM:253010
Congenital Disorder Of Glycosylation, Type Iim
High palate, Short philtrum, Fused teeth, Enamel hypoplasia, Open mouth, Exaggerated cupid's bow,... OMIM:300896
Usher Syndrome
Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology ORPHA:886
Sanjad-Sakati Syndrome
Long philtrum, Micrognathia, Abnormal dental enamel morphology, Abnormality of the dentition, Thi... ORPHA:2323
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Periodontitis, Delayed eruption of permanent teeth, Premature loss of teeth, Retrognathia, Dentin... OMIM:619269
Cenani-Lenz Syndrome
Short philtrum, Hypodontia, High, narrow palate, Malar flattening, Abnormal dental enamel morphology ORPHA:3258
Young-Onset Parkinson Disease
Hyposmia ORPHA:2828
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Long philtrum, Micrognathia, Maxillary lateral incisor microdontia, Conical incisor, Dental maloc... ORPHA:73223
Corneodermatoosseous Syndrome
Gingivitis, Carious teeth, Abnormal dental enamel morphology ORPHA:3194
Koolen-De Vries Syndrome
Hypodontia, Microdontia, Everted lower lip vermilion, High, narrow palate, Abnormal dental enamel... ORPHA:96169
Treacher-Collins Syndrome
Narrow mouth, High palate, Cleft upper lip, Open bite, Tooth agenesis, Micrognathia, Hypoplasia o... ORPHA:861
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Long philtrum, Velopharyngeal insufficiency, Submucous cleft hard palate, Smooth philtrum, Enamel... OMIM:614701
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Leukopenia, Hepatosplenomegaly, Hypercholesterolemi... ORPHA:470
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Microdontia, Inguinal hernia, Abnormal dental enamel morphology, Retrognathia, Hypoplasia of the ... ORPHA:1812
Costello Syndrome
Thick lower lip vermilion, Macroglossia, Abnormal dental enamel morphology, Abnormality of the de... ORPHA:3071
Holoprosencephaly
Absent nares, Anosmia, Failure to thrive in infancy, Depressed nasal ridge, Aplasia/Hypoplasia in... ORPHA:2162
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Kallmann Syndrome-Heart Disease Syndrome
Total anosmia, Partial anosmia ORPHA:2326
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
3M Syndrome
Abnormal dental enamel morphology, Everted lower lip vermilion, Long philtrum, Delayed eruption o... ORPHA:2616
Osteogenesis Imperfecta, Type X
Inguinal hernia, Dentinogenesis imperfecta, Malar flattening, Micrognathia OMIM:613848
Immunodeficiency 47
Leukopenia, Normocytic anemia, Accessory spleen, Hypercholesterolemia, Splenomegaly, Thrombocytop... OMIM:300972
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hepatosplenomegaly, Vacuolated lymphocytes, Hypercholesterolemia, Hyperkalemia, Xan... ORPHA:275761
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Amelogenesis imperfecta OMIM:610319
Lacrimoauriculodentodigital Syndrome
Abnormal salivary gland morphology, Bifid uvula, Enamel hypoplasia, Hypodontia, Microdontia, Cari... ORPHA:2363
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Hypercholesterolemia ORPHA:69663
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Enamel hypoplasia ORPHA:79444
Stuve-Wiedemann Syndrome 1
Contracture of the proximal interphalangeal joint of the 5th finger, Smooth tongue, Micrognathia,... OMIM:601559
Waardenburg Syndrome, Type 4C
Anosmia OMIM:613266
Chronic Mucocutaneous Candidiasis
Cheilitis, Abnormality of the mouth, Abnormal dental enamel morphology, Abnormal lip morphology