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Gene: Slc24a4 MGI:2447362

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Gene Summary

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

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

Download data as:  TSV  XLS

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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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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

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X-ray

XRay Images Whole Body Lateral Orientation

19 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

18 Images

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Adult LacZ

LacZ Images Wholemount

9 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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Download thumbnail Download
MicroCT E18.5

Embryo reconstruction

3 Images

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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
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the 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, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Enamel hypomineralization, Hypomature dental enamel 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, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite OMIM:617297
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta OMIM:104530
Dentin Dysplasia, Type I
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... OMIM:301200
Amelogenesis Imperfecta, Type If
Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta OMIM:616270
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... OMIM:616221
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:104510
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... OMIM:125500
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Regional Odontodysplasia
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... ORPHA:83450
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Pulp calcification, Dentinogenesis imperfecta limited to primary teeth OMIM:125420
Amelogenesis Imperfecta
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... ORPHA:88661
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... OMIM:204700
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... OMIM:618386
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... OMIM:204650
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Otodental Dysplasia
Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age... OMIM:166750
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Oligodontia
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... ORPHA:99798
Dentinogenesis Imperfecta
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Selective tooth agenesi... ORPHA:49042
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Enamel hypoplasia, Hypodontia, Oral mucosal blisters, Carious teeth OMIM:226650
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth, Scarring alopecia of scalp OMIM:619787
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia OMIM:615266
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Splenomegaly, Unconjugated hyperbilirubinemia, Elevated tran... ORPHA:766
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
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Musk, Inability To Smell
Anosmia OMIM:254150
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo... OMIM:206200
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphol... ORPHA:2972
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Malar flattening, Thin vermilion border, Abnormal dental enamel morphology ORPHA:139474
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Stimmler Syndrome
Microdontia, Abnormal dental enamel morphology ORPHA:3199
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Atrophic scars, Oral mucosal blisters, Scarring alopecia of scalp ORPHA:79402
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Multiple unerupted teeth, Crowded maxillary incisors OMIM:183300
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Retrognathia, Enamel hypoplasia, High palate OMIM:617915
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... ORPHA:83451
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Enamel hypoplasia, Atrophic scars OMIM:226700
Taurodontism
Taurodontia OMIM:272700
Cleft Palate, Isolated
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Hypercholesterolemia OMIM:301033
Aural Atresia, Congenital
Hyposmia OMIM:607842
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion OMIM:613576
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Heimler Syndrome 2
Amelogenesis imperfecta, Dental crowding OMIM:616617
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Flexion contracture, Generalized hypoplasia of dental enamel OMIM:203550
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ... ORPHA:1028
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Jalili Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology ORPHA:1873
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Enamel hypoplasia, Mandibular prognathia, High palate, Pierre-Robin sequence, Hip contracture, Mi... OMIM:618363
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Enamel hypoplasia, Thick vermilion border ORPHA:363523
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anemia o... ORPHA:67044
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Microdon... ORPHA:3352
Body Mass Index Quantitative Trait Locus 19
Obesity, Anosmia, Hyposmia OMIM:617885
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Enamel hypoplasia, Scarring alopecia of scalp, Limb joint contracture, Atypic... ORPHA:251393
Trichodental Dysplasia
Conical tooth, Hypodontia, Odontodysplasia OMIM:601453
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... OMIM:616860
Otodental Syndrome
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... ORPHA:2791
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Abnormal mandible morphology, Arthrogryposis multiplex congenita, Natal tooth OMIM:217150
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Short philtrum, Tooth agenesis, Abnormal dental... ORPHA:2325
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Abnormality of the sense of smell OMIM:146110
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Thick lower lip vermilion, Microdontia of primary teeth, U-Shaped upper lip ve... OMIM:234250
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Abnormality of dental morphology, Hypoplasia of teeth ORPHA:248
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... OMIM:615631
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Keloids, Atrophic scars, Oral mucosal blisters, Carious teeth ORPHA:79405
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Anosmia, Hyposmia OMIM:610628
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Splenom... OMIM:619868
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Ameloonychohypohidrotic Syndrome
Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Yellow-brown dis... OMIM:104570
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Keloids, Atrophic scars, Oral mucosal blisters, Carious teeth ORPHA:79406
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia ORPHA:1135
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Bifid nose, Hyposmia OMIM:614838
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth OMIM:616029
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Splenomegaly, Hypercholesterolemia OMIM:306000
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Alveolar process hypoplasia, Eruption failure, Delayed eruption of primary teeth, Multiple non-er... OMIM:273050
Bardet-Biedl Syndrome 19
Obesity, Hyposmia OMIM:615996
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... OMIM:613673
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth ORPHA:2643
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Amelogenesis imperfecta OMIM:245660
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Dental Anomalies And Short Stature
Mandibular prognathia, Widely spaced teeth, Microdontia, Oligodontia, Hypoplasia of the maxilla, ... OMIM:601216
48,Xyyy Syndrome
Enamel hypoplasia, High palate, Long philtrum, Thick lower lip vermilion, Irregularly spaced teeth ORPHA:99329
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Enamel hypoplasia, Increased connective tissue, Scarring alopecia of scalp OMIM:226670
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short nasal septum, Anosmia, Short nose OMIM:302950
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... OMIM:224120
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Self-Improving Dystrophic Epidermolysis Bullosa
Carious teeth, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters ORPHA:79411
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia ORPHA:75234
Sitosterolemia 1
Reduced haptoglobin level, Hypercholesterolemia, Stomatocytosis, Anemia, Giant platelets, Reticul... OMIM:210250
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia, Splenomegaly OMIM:612526
Seckel Syndrome 5
Retrognathia, Enamel hypoplasia, High palate, Selective tooth agenesis, Micrognathia, Hypodontia,... OMIM:613823
Orofaciodigital Syndrome Type 5
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... ORPHA:2919
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Hepatosplenomegaly, Elevated circulating creat... OMIM:616828
Mulibrey Nanism
Enamel hypoplasia, Dental malocclusion, Hypoplastic frontal sinuses, Hypodontia, Absent frontal s... OMIM:253250
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Anosmia, Hyposmia OMIM:612702
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Poikilocytosis, Anisocytosis, Bone marrow hypocellularity, Macrocytic anemia, Thr... OMIM:300835
Apolipoprotein C-Ii Deficiency
Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia, Increased circulat... OMIM:207750
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Enamel hypoplasia, Carious teeth OMIM:614564
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Peroxisome Biogenesis Disorder 9B
Anosmia OMIM:614879
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia OMIM:613724
Cenani-Lenz Syndactyly Syndrome
Enamel hypoplasia, Micrognathia, Hypodontia, Malar flattening, Premature loss of permanent teeth OMIM:212780
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... OMIM:300908
Ramon Syndrome
Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palate, Delayed eruption of teeth ORPHA:3019
Analbuminemia
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture OMIM:270200
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... ORPHA:98870
Ectodermal Dysplasia-Syndactyly Syndrome 1
Conical tooth, Enamel hypoplasia, Widely spaced teeth OMIM:613573
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Carious teeth, Enamel hypoplasia, Scarring alopecia of scalp OMIM:612843
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Delayed eruption of teeth, Abnormality of dental morphology, Gingival fibromatosis, ... ORPHA:2025
Naegeli-Franceschetti-Jadassohn Syndrome
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Abnormality of dental morphology, Sup... ORPHA:69087
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Agenesis ... ORPHA:2228
Van Der Woude Syndrome 2
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate OMIM:606713
Braddock-Carey Syndrome 1
Enamel hypoplasia, Pierre-Robin sequence, Camptodactyly, Everted lower lip vermilion, U-Shaped up... OMIM:619980
Cockayne Syndrome Type 2
Enamel hypoplasia, Flexion contracture, Mandibular prognathia, Delayed eruption of primary teeth,... ORPHA:90322
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia, Hyposmia OMIM:244200
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Anosmia OMIM:614880
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Enamel hypoplasia, Microdontia, Oligodontia, Scarring alopeci... OMIM:618727
Snijders Blok-Campeau Syndrome
Enamel hypoplasia, High palate, Widely spaced teeth, Taurodontia, Inguinal hernia, Umbilical hernia OMIM:618205
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Oculoskeletodental Syndrome
Retrognathia, Enamel hypoplasia, Microdontia, Oligodontia, Abnormality of the dentition ORPHA:557003
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Pulp calcification, Taurodontia OMIM:211900
Rh Deficiency Syndrome
Reduced haptoglobin level, Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... ORPHA:71275
Hyperostosis Cranialis Interna
Anosmia, Hyposmia OMIM:144755
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Dental malocclusion, Flexion contracture, Wide mouth, Widely spaced teeth, Mic... OMIM:619293
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Immunodeficiency 33
Conical tooth, Hypodontia, Delayed eruption of teeth OMIM:300636
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth OMIM:615905
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Hyperlipoproteinemia, Type I
Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemia, Increased circulating... OMIM:238600
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, High palate, Delayed eruption of teeth, Micrognathia, Narrow mouth, Ma... OMIM:613849
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hypodontia, Oligodontia, Scarring alopecia of scalp, Abnormal dental enamel morphology ORPHA:59303
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Cranioectodermal Dysplasia
Microdontia, Hypodontia, Taurodontia, Everted lower lip vermilion, Abnormality of the dentition, ... ORPHA:1515
Indifference To Pain, Congenital, Autosomal Recessive
Anosmia, Hyposmia OMIM:243000
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival fibromatosis, Delayed eruption of permanent teeth, Am... OMIM:204690
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, High palate, Prominent frontal sinuses, Micrognathia, Oligodontia, Dental crow... OMIM:170390
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Anosmia, Hyposmia, Choanal atresia OMIM:147950
Cleft Lip/Palate
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... ORPHA:199306
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Recessive Dystrophic Epidermolysis Bullosa Inversa
Carious teeth, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters ORPHA:79409
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Enamel hypoplasia, Keloids, Atrophic scars, Oral mucosal blisters, Carious teeth, Atypical scarri... ORPHA:79410
Rapp-Hodgkin Syndrome
Conical tooth, Enamel hypoplasia, Cleft upper lip, Microdontia, Hypodontia, Bifid uvula, Taurodon... OMIM:129400
Pycnodysostosis
Enamel hypoplasia, Dental malocclusion, Obtuse angle of mandible, High palate, Delayed eruption o... ORPHA:763
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Enamel hypoplasia, Atrophic scars, Oral mucosal blisters, Arthrogryposis multiplex congenita OMIM:226730
Huntington Disease
Abnormality of the sense of smell, Decreased body mass index, Weight loss ORPHA:399
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Hypoplasia of teeth OMIM:613312
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Anosmia, Hyposmia OMIM:614897
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Lysosomal Acid Lipase Deficiency
Leukopenia, Anemia, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Increased LDL cholesterol con... OMIM:278000
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... OMIM:616959
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Enamel hypoplasia, Pierre-Robin sequence, Hypodontia, Oligodontia, Dental crowding, Cleft palate,... OMIM:619184
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Kallmann Syndrome With Spastic Paraplegia
Anosmia, Eunuchoid habitus OMIM:308750
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Johnson Neuroectodermal Syndrome
Failure to thrive, Bulbous nose, Anosmia, Choanal atresia ORPHA:2316
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Malar flattening OMIM:614727
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Enamel hypoplasia, High palate, Ankyloglossia, Thin upper lip vermilion, Malar flattening, Bilate... OMIM:618874
Odontomicronychial Dysplasia
Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormality of the dentition ORPHA:1811
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
Aredyld Syndrome
Mandibular prognathia, Advanced eruption of teeth, Craniofacial hyperostosis, Narrow mouth, Smoot... ORPHA:1133
Jalili Syndrome
Enamel agenesis, Carious teeth, Yellow-brown discoloration of the teeth OMIM:217080
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Agenesis of lateral incisor, Selective tooth agenesis, Hypodontia, Anodon... OMIM:313500
Qazi-Markouizos Syndrome
Open mouth, High, narrow palate, Broad philtrum, Hypoplasia of teeth ORPHA:3010
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Enamel hypoplasia, Flexion contracture, Corneal scarring, Atrophic scars, Narrow mouth, Oral muco... OMIM:226600
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Hypoplasia of teeth, Flexion contracture, Camptodactyly, Accessory oral frenulum ORPHA:88630
Seckel Syndrome 1
Dental malocclusion, Enamel hypoplasia, High palate, Selective tooth agenesis, Micrognathia, Elbo... OMIM:210600
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary central incisor, Delayed e... OMIM:257850
Marcus-Gunn Syndrome
Abnormality of the sense of smell, Choanal atresia ORPHA:91412
Gorlin Syndrome
Abnormality of the sense of smell, Wide nasal bridge ORPHA:377
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Anosmia, Hyposmia OMIM:308700
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Anosmia, Short nose ORPHA:1295
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Odontochondrodysplasia
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:166272
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Inguinal hernia, Hypocalcification of dental enamel, Umbilical ... ORPHA:3134
Solitary Median Maxillary Central Incisor
Choanal atresia, Midnasal stenosis, Anosmia, Pyriform aperture stenosis, Abnormal nasopharynx mor... OMIM:147250
Bardet-Biedl Syndrome 17
Obesity, Anosmia, Hyposmia OMIM:615994
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia, Hypercholesterolemia ORPHA:263501
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth OMIM:612462
Usher Syndrome Type 2
Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology ORPHA:231178
48,Xxyy Syndrome
Broad jaw, Delayed eruption of teeth, Thick lower lip vermilion, Taurodontia, Inguinal hernia, Ca... ORPHA:10
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit... ORPHA:1031
Ohdo Syndrome
Long philtrum, Widely spaced teeth, Micrognathia, Narrow mouth, Smooth philtrum, Thin vermilion b... OMIM:249620
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Hernia, Micrognathia, Hypodontia, Microdontia, Amelogenesis imperfecta OMIM:617052
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Carious teeth, Dentinogenesis imperfecta OMIM:604922
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth OMIM:103580
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal palate morphology, Abnormal dental enamel morphology ORPHA:3236
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... ORPHA:247598
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
Galactokinase Deficiency
Hepatosplenomegaly, Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Enamel hypoplasia, Delayed eruption of teeth OMIM:277440
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia OMIM:616267
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Hamamy Syndrome
Enamel hypoplasia, Dental malocclusion, High palate, Long philtrum, Wide mouth, Micrognathia, Hyp... OMIM:611174
Raine Syndrome
Enamel hypoplasia, Mandibular prognathia, High palate, Wide mouth, Natal tooth, Micrognathia, Mic... OMIM:259775
Orotic Aciduria
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Folate-unresponsive meg... OMIM:258900
Kohlschutter-Tonz Syndrome-Like
Enamel hypoplasia, Delayed eruption of teeth, Widely spaced teeth, Abnormality of dental morpholo... OMIM:619229
Temple Syndrome
Decreased testicular size, Hypertriglyceridemia, Cryptorchidism, Hypercholesterolemia OMIM:616222
Craniolenticulosutural Dysplasia
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Microdontia, Hypoplasia of the... ORPHA:50814
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Cockayne Syndrome Type 1
Enamel hypoplasia, Foot joint contracture, Mandibular prognathia, Delayed eruption of primary tee... ORPHA:90321
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Enamel hypoplasia OMIM:614576
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta OMIM:301014
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Malar flattening, Mandibular prognathia, High palate, Abnormal dental enamel morphology ORPHA:2180
Hall-Riggs Syndrome
Wide mouth, Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morpho... ORPHA:2107
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth OMIM:264700
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia OMIM:616488
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hypodontia, Enamel hypoplasia, Oligodontia OMIM:607626
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... ORPHA:231226
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Refsum Disease, Classic
Anosmia OMIM:266500
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta OMIM:619795
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enamel hypoplasia, Bifid uvula, Wide mouth, Abnormality of the dentition OMIM:615802
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Cholesterol gallstones, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hyperchole... ORPHA:209902
Mandibuloacral Dysplasia
Contractures of the large joints, High palate, Lipoatrophy, Micrognathia, Increased adipose tissu... ORPHA:2457
Oculodentodigital Dysplasia
Enamel hypoplasia, Cleft upper lip, High palate, Selective tooth agenesis, Microdontia, Broad alv... OMIM:164200
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Anosmia OMIM:601152
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Micrognathia, Abnormality of dental morphology, Hypodontia, Anodontia, Hypoplasi... ORPHA:3253
Johnson Neuroectodermal Syndrome
Choanal stenosis, Anosmia OMIM:147770
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Long philtrum, Micrognathia, Oligodontia, Short philtrum, Dorsocervical fat pad, Thin upper lip v... ORPHA:391408
Laron Syndrome
Hypercholesterolemia ORPHA:633
Hydrolethalus
Abnormality of the sense of smell ORPHA:2189
Kufor-Rakeb Syndrome
Anosmia, Hyposmia OMIM:606693
Dysosteosclerosis
Craniofacial hyperostosis, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:1782
Orofaciodigital Syndrome I
Lobulated tongue, Cleft upper lip, Enamel hypoplasia, Bifid tongue, High palate, Tongue nodules, ... OMIM:311200
Temtamy Syndrome
Micrognathia, Dental crowding, Long philtrum, Hypoplasia of teeth OMIM:218340
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormality of the sense of smell OMIM:228300
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:615558
Ciliary Dyskinesia, Primary, 1
Chronic rhinitis, Recurrent bronchitis, Anosmia, Nasal polyposis OMIM:244400
Cleidocranial Dysplasia 1
Enamel hypoplasia, Narrow palate, High palate, Hypoplastic frontal sinuses, Delayed eruption of p... OMIM:119600
Specific Granule Deficiency 2
Conical tooth, Amelogenesis imperfecta, Tooth malposition OMIM:617475
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, High palate, Micrognathia, Decreased adipose tissue around neck, Narrow mout... OMIM:608612
Dysostosis, Stanescu Type
Macroglossia, Hypoplasia of the maxilla, Abnormal palate morphology, Hypoplasia of the zygomatic ... ORPHA:1798
Cleidocranial Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Open bite, H... ORPHA:1452
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Bile duct proliferation, Increased serum bi... OMIM:619662
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:615812
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Short Syndrome
Abnormal mandible morphology, Microdontia, Inguinal hernia, Lipodystrophy, Abnormal zygomatic bon... ORPHA:3163
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... ORPHA:64753
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia ORPHA:77296
Codas Syndrome
Abnormality of dental morphology, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:1458
Scarf Syndrome
Inguinal hernia, Enamel hypoplasia, Long philtrum, Umbilical hernia OMIM:312830
Immunodeficiency 9
Amelogenesis imperfecta, Recurrent aphthous stomatitis, Stomatitis OMIM:612782
Xfe Progeroid Syndrome
Enamel hypoplasia, Corneal scarring, Premature loss of teeth, Absence of subcutaneous fat OMIM:610965
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Hypodontia, Vaginal hernia, Cleft palate, Macrodontia, Abnormal dental ena... ORPHA:2916
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia OMIM:277460
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth ORPHA:289157
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Hypercholesterolemia ORPHA:96184
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... ORPHA:247585
Septo-Optic Dysplasia Spectrum
Obesity, Anosmia ORPHA:3157
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Polycystic ovaries, Hypercholesterolemia ORPHA:528
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Hyperuricemia, Increased red blood cell coun... ORPHA:90041
Refsum Disease
Anosmia ORPHA:773
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Long philtrum, Micrognathia, Short philtrum, Hypoplasia of the maxilla, Th... ORPHA:439822
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Anemia, Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Po... ORPHA:264580
8Q21.11 Microdeletion Syndrome
Underdeveloped nasal alae, Abnormality of the sense of smell, Wide nose ORPHA:284160
Developmental And Epileptic Encephalopathy 100
Bilateral camptodactyly, Enamel hypoplasia, High palate, Micrognathia, Elbow flexion contracture,... OMIM:619777
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Anemia, Elevated circulating creatine kinase concentration, Polycystic ovaries, Hypercholesterole... ORPHA:79240
Cole-Carpenter Syndrome 1
Micrognathia, Microdontia, Dentinogenesis imperfecta OMIM:112240
Acrootoocular Syndrome
Dental malocclusion, Delayed eruption of teeth, Grayish enamel, Micrognathia, Anodontia, Supernum... ORPHA:2980
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Omphalocele OMIM:243150
Mucopolysaccharidosis Type 4
Hernia, Wide mouth, Grayish enamel, Carious teeth, Abnormality of the dentition, Abnormal dental ... ORPHA:582
Isolated Follicle Stimulating Hormone Deficiency
Anosmia ORPHA:52901
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta, Abnormality of the dentition OMIM:610968
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Taurodontia, Inguinal hernia, Carious teeth, Cl... ORPHA:96263
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Leukocytosis, Hypercholesterolemia ORPHA:90065
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Polycystic... ORPHA:370
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microdontia, Hypoplasia of teeth, Cleft palate, Widely spaced teeth ORPHA:2728
Acrocallosal Syndrome
Everted upper lip vermilion, Bifid uvula, Abnormal oral frenulum morphology, Smooth philtrum, Cle... OMIM:200990
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Recurrent aphthous stomatitis, Stomatitis OMIM:212750
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Long philtrum, Delayed eruption of teeth OMIM:184260
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
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Microdontia, Retrognathia OMIM:210720
Dysbetalipoproteinemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... ORPHA:412
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom... OMIM:618278
Cole-Carpenter Syndrome
Micrognathia, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2050
Trichothiodystrophy
Retrognathia, Enamel hypoplasia, Multiple joint contractures, Hypoplasia of mandible relative to ... ORPHA:33364
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Craniolenticulosutural Dysplasia
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Bifid uvula, Thin upper lip ve... OMIM:607812
Knobloch Syndrome 2
Enamel hypoplasia, Micrognathia OMIM:618458
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Arthrogryposis And Ectodermal Dysplasia
Cleft upper lip, Joint contracture of the hand, Oligodontia, Camptodactyly, Abnormal dental ename... OMIM:601701
Kallmann Syndrome
Obesity, Anosmia, Hyposmia ORPHA:478
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Taurodontia, Carious teeth, Cleft palate, Open ... ORPHA:96264
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth ORPHA:94089
Lenz-Majewski Hyperostotic Dwarfism
Knee flexion contracture, Enamel hypoplasia, Mandibular prognathia, Micrognathia, Elbow flexion c... OMIM:151050
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Oral mucosal blisters ORPHA:79403
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Non-midline cleft lip, Delayed eruption of teeth, Widely spaced teeth, Micrognathi... ORPHA:1071
Hereditary Late-Onset Parkinson Disease
Weight loss, Hyposmia ORPHA:411602
Cockayne Syndrome A
Dental malocclusion, Enamel hypoplasia, Mandibular prognathia, Hip contracture, Delayed eruption ... OMIM:216400
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Increased circulating prolactin concentration, Thyroid hypoplasia, Abnormal circu... ORPHA:90674
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Decreased testicular size, Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Campomelic Dysplasia
Depressed nasal bridge, Abnormality of the sense of smell ORPHA:140
Osteogenesis Imperfecta, Type Iii
Micrognathia, Dentinogenesis imperfecta OMIM:259420
Congenital Hypothyroidism
Anosmia, Depressed nasal ridge ORPHA:442
Kilquist Syndrome
Mandibular prognathia, Hypoplasia of teeth, Wide mouth OMIM:619080
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Absent nares, Single naris, Anosmia, Hyposmia ORPHA:2250
Cole-Carpenter Syndrome 2
Dentinogenesis imperfecta, High palate, Microretrognathia OMIM:616294
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Atrophic scars, Scarring, Oral mucosal blisters, Smooth tongue ORPHA:79396
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Camptodactyly of finger, Taurodontia, Abnormality of the dentition, Abnormal dental enamel morpho... ORPHA:3220
Cenani-Lenz Syndrome
Hypodontia, Short philtrum, Malar flattening, High, narrow palate, Abnormal dental enamel morphology ORPHA:3258
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Retrognathia, Microdontia, Inguinal hernia, Hypoplasia of the zygomatic bone, Cleft palate, Abnor... ORPHA:1812
Nail-Patella Syndrome
Knee flexion contracture, Enamel hypoplasia, Flexion contracture, Elbow flexion contracture, Achi... ORPHA:2614
Young-Onset Parkinson Disease
Hyposmia ORPHA:2828
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Dental malocclusion, Long philtrum, Micrognathia, Maxillary lateral incisor microdontia, Localize... ORPHA:73223
Koolen-De Vries Syndrome
Narrow palate, Microdontia, Hypodontia, Everted lower lip vermilion, Cleft palate, Abnormality of... ORPHA:96169
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Flexion contracture, High palate, Reduced subcutaneous adipose t... OMIM:248370
Codas Syndrome
Enamel hypoplasia, Omphalocele, Delayed eruption of teeth OMIM:600373
Sanjad-Sakati Syndrome
Long philtrum, Micrognathia, Abnormal dental enamel morphology, Thin vermilion border, Abnormalit... ORPHA:2323
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Usher Syndrome
Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology ORPHA:886
Lysinuric Protein Intolerance
Leukopenia, Anemia, Hyperalaninemia, Hyperglycinemia, Decreased response to growth hormone stimul... ORPHA:470
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hypocalcification of dental enamel ORPHA:169090
Immunodeficiency 47
Leukopenia, Normocytic anemia, Decreased circulating copper concentration, Accessory spleen, Hype... OMIM:300972
Corneodermatoosseous Syndrome
Carious teeth, Gingivitis, Abnormal dental enamel morphology ORPHA:3194
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Long philtrum, Umbilical hernia, Thin vermilion border OMIM:614856
Costello Syndrome
Narrow palate, Thick lower lip vermilion, Macroglossia, Abnormal dental enamel morphology, Abnorm... ORPHA:3071
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Long philtrum, Velopharyngeal insufficiency, Submucous cleft hard palate, Thin upper lip vermilio... OMIM:614701
Treacher-Collins Syndrome
Retrognathia, Cleft upper lip, High palate, Wide mouth, Abnormality of the dentition, Micrognathi... ORPHA:861
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Retrognathia, Dentinogenesis imperfecta, Periodontitis, Delayed eruption of permanent teeth, Prem... OMIM:619269
Cranioectodermal Dysplasia 1
Enamel hypoplasia, High palate, Widely spaced teeth, Microdontia, Hypodontia, Anodontia, Everted ... OMIM:218330
Orofaciodigital Syndrome Type 2
Talon cusp, Bifid tongue, High palate, Natal tooth, Tongue nodules, Unilateral alveolar cleft of ... ORPHA:2751