Gene Summary

Name:
disco interacting protein 2 homolog A
Synonyms:
Dip2,  Kiaa0184-hp,  4931420H10Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating iron level Dip2atm2b(KOMP)Wtsi HOM   Early adult 2.81×10-05

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 50% (1 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Forepaw

15 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 125 images

Human diseases caused by Dip2a 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dip2a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
Brachydactyly, Type E2
Short stature, Delayed eruption of teeth, Oligodontia OMIM:613382
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b... ORPHA:2025
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Lowry-Maclean Syndrome
Intrauterine growth retardation, Delayed eruption of teeth, Cleft palate OMIM:600252
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee... ORPHA:2228
Iron Overload, Susceptibility To
Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir... OMIM:620121
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short stature, Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Pyle Disease
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... OMIM:265900
Angel-Shaped Phalango-Epiphyseal Dysplasia
Short stature, Hypodontia, Delayed eruption of teeth ORPHA:63442
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Ramon Syndrome
Delayed eruption of teeth, Failure to thrive, Abnormal dental enamel morphology, Narrow palate, G... ORPHA:3019
Short Stature, Dauber-Argente Type
Short stature, Postnatal growth retardation, Delayed eruption of teeth OMIM:619489
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased body weight, Increased body mass index, Macroglossia, Growth... OMIM:614450
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Short philtrum, Man... ORPHA:2325
Gigantiform Cementoma, Familial
Tooth malposition, Cementoma, Multiple impacted teeth OMIM:137575
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Pseudopseudohypoparathyroidism
Short stature, Obesity, Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Cleft... OMIM:618761
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Short stature, Hypodontia, Delayed puberty, Delayed eruption of teeth ORPHA:1816
Immunodeficiency 33
Hypodontia, Conical tooth, Delayed eruption of teeth OMIM:300636
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors OMIM:183300
Laron Syndrome
Severe short stature, Delayed eruption of teeth, Tooth agenesis, Micrognathia, Microdontia, Delay... ORPHA:633
Tetrasomy 12P
Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,... ORPHA:884
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Failure to thrive, Postnatal growth retardation, Intrauterine growth r... ORPHA:73272
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Tooth agenesis, Micrognathia, Abnormality of the philtrum, Short statu... ORPHA:2863
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Steatocystoma Multiplex
Natal tooth OMIM:184500
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Increased circulating ferritin concentration OMIM:205950
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Thick lower lip vermilion, Thick upper lip vermilion, Postnatal growth retardation, Wide mouth, M... OMIM:309545
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of primary teeth, Micrognat... OMIM:618342
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Natal tooth, Abnormal mandible morphology OMIM:217150
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Hall-Riggs Syndrome
Delayed eruption of teeth, Downturned corners of mouth, Failure to thrive, Abnormal dental enamel... ORPHA:2107
Three M Syndrome 2
Severe short stature, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Intrauterine... OMIM:612921
Ectodermal Dysplasia/Short Stature Syndrome
Short stature, Hypodontia, Enamel hypoplasia, Delayed eruption of teeth OMIM:616029
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Wide mouth, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion border OMIM:618506
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia ORPHA:181
Silver-Russell Syndrome Due To 11P15 Microduplication
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Severe intraute... ORPHA:231144
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
48,Xxyy Syndrome
Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Open bite, Abnorm... ORPHA:10
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Intrauterine growth retardat... OMIM:614607
Weismann-Netter Syndrome
Severe short stature, Delayed eruption of permanent teeth OMIM:112350
Gracile Syndrome
Increased circulating iron concentration, Increased serum pyruvate, Increased circulating ferriti... OMIM:603358
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, Delayed eruption of teeth, Micrognathia, Narrow mouth, Short stature, ... OMIM:613849
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth OMIM:615905
Acrootoocular Syndrome
High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Failure to thrive, Micrognat... ORPHA:2980
4H Leukodystrophy
Abnormality of the dentition, Delayed eruption of teeth, Hypodontia, Delayed puberty, Short stature ORPHA:289494
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Hi... OMIM:619736
Pycnodysostosis
Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of primary teeth, Abs... OMIM:265800
Odontochondrodysplasia
Short stature, Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia ORPHA:166272
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Short stature, Delayed eruption of teeth ORPHA:2238
Coffin-Siris Syndrome 3
Long philtrum, Delayed eruption of permanent teeth, Intrauterine growth retardation, Thick vermil... OMIM:614608
Aredyld Syndrome
Craniofacial hyperostosis, Abnormal dental enamel morphology, Intrauterine growth retardation, Na... ORPHA:1133
Temple-Baraitser Syndrome
Delayed eruption of teeth, Everted upper lip vermilion, Long philtrum, Gingival overgrowth, Open ... ORPHA:420561
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Cerebrooculofacioskeletal Syndrome 1
Carious teeth, Delayed eruption of teeth, Long philtrum, Failure to thrive, Micrognathia, Thin ve... OMIM:214150
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Thick vermilion border, Sh... ORPHA:137834
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Glycogen Storage Disease Vi
Failure to thrive in infancy, Postnatal growth retardation OMIM:232700
Aarskog-Scott Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of teeth, Long philtrum... ORPHA:915
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Hypodontia, Short stature, High pala... OMIM:612350
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... ORPHA:2563
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Dental crowding, Delayed eruption of teeth, Long philtrum, High palate, Wide mouth OMIM:618825
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Solitary median maxillary central incisor, Hypodonti... ORPHA:952
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Obesity... OMIM:157980
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Pycnodysostosis
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Disp... ORPHA:763
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Open mouth, Narrow mouth, Microdontia, Delayed eruption of permanent teeth OMIM:619356
Spinocerebellar Ataxia, Autosomal Recessive 20
Dental crowding, Delayed eruption of teeth, Long philtrum, Broad philtrum, Thick vermilion border... OMIM:616354
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Widely spaced teeth, Delayed eruption of teeth, Thick lower lip vermilion OMIM:619797
Osteoglosphonic Dysplasia
Severe short stature, Rhizomelia, Tooth agenesis, Failure to thrive in infancy, Micrognathia, Mul... ORPHA:2645
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever... OMIM:616367
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, M... ORPHA:50814
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Natal tooth, Delayed eruption of teeth, Oligodontia, Hypodontia, Short stature, Growth delay OMIM:614381
Odontomicronychial Dysplasia
Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los... ORPHA:1811
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Elevated hepatic iron concentration OMIM:206100
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed eruption of teeth, Oligodontia, Hypodontia, Delayed puberty, Short stature ORPHA:447896
Hyperferritinemia With Or Without Cataract
Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc... OMIM:600886
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Advanced eruption of teeth, Short stature, High palate, Mandibular prognathia, Small for gestatio... OMIM:262190
Pseudohypoparathyroidism, Type Ic
Short stature, Obesity, Enamel hypoplasia, Delayed eruption of teeth OMIM:612462
Smith-Magenis Syndrome
Cleft upper lip, Failure to thrive in infancy, Obesity, Micrognathia, Open mouth, Tented upper li... ORPHA:819
Johanson-Blizzard Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Failure to thrive, Intrauterine growth r... ORPHA:2315
Cleidocranial Dysplasia
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Hypo... ORPHA:1452
Emanuel Syndrome
Broad jaw, Tooth malposition, Bifid uvula, Submucous cleft lip, Dental crowding, Delayed eruption... ORPHA:96170
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth OMIM:272300
Camptodactyly Syndrome, Guadalajara Type 1
Dental malocclusion, Downturned corners of mouth, Open bite, Intrauterine growth retardation, Nar... ORPHA:1327
Pseudohypoparathyroidism, Type Ia
Short stature, Obesity, Enamel hypoplasia, Delayed eruption of teeth OMIM:103580
Marbach-Rustad Progeroid Syndrome
Eruption failure, Intrauterine growth retardation, Micrognathia, Narrow mouth, Delayed eruption o... OMIM:619322
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Dentinogenesis imperfecta, Periodontitis, Retrognathia, Growth delay, Obesity, Proportionate shor... OMIM:619269
Dysosteosclerosis
Abnormal dental enamel morphology, Craniofacial hyperostosis, Short stature, Delayed eruption of ... ORPHA:1782
Short Syndrome
Dental malocclusion, Delayed eruption of teeth, Downturned corners of mouth, Intrauterine growth ... OMIM:269880
Codas Syndrome
Abnormal dental enamel morphology, Abnormal dental morphology, Short stature, Delayed eruption of... ORPHA:1458
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Postnatal growth retardation, Truncal obesity, Abdominal obesity OMIM:618160
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Intrauterine growth retardation, Thick vermilion border, Open mouth, D... OMIM:615866
Den Hoed-De Boer-Voisin Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ... OMIM:619229
Chromosome 13Q33-Q34 Deletion Syndrome
Cleft lip, Delayed eruption of teeth, Micrognathia, Open mouth, Irregular dentition, Gingival ove... OMIM:619148
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum, Mesomelic short stature, Sho... OMIM:184260
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Delayed eruption of teeth, Failure to thrive, Enamel hypoplasia, Growth delay OMIM:277440
Andersen Cardiodysrhythmic Periodic Paralysis
Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognathia, Malar fla... OMIM:170390
Oculofaciocardiodental Syndrome
Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Submuc... ORPHA:2712
48,Xxxy Syndrome
Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Obesity, ... ORPHA:96263
Eiken Syndrome
Eruption failure, Thick lower lip vermilion, Persistence of primary teeth, Multiple impacted teet... OMIM:600002
Acrodysostosis 1 With Or Without Hormone Resistance
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Disproportionate short... OMIM:101800
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Intrauterine growth retardation, Mi... ORPHA:2050
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Severe short stature ORPHA:3238
Dermatitis Herpetiformis
Dental enamel pits, Erosion of oral mucosa, Delayed eruption of teeth ORPHA:1656
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma... OMIM:204690
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Hypoplasia of the maxilla, Narrow palate, Delayed eruption of teeth, T... ORPHA:192
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Micrognathia, Micro... OMIM:190350
Cockayne Syndrome Type 2
Widely spaced primary teeth, Intrauterine growth retardation, Hypoplasia of the primary teeth, De... ORPHA:90322
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Emanuel Syndrome
Broad jaw, Dental crowding, Failure to thrive, Long philtrum, Intrauterine growth retardation, Mi... OMIM:609029
49,Xxxxy Syndrome
Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Taurodont... ORPHA:96264
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth, Failure to thrive, Growth delay OMIM:264700
Lowry-Maclean Syndrome
High, narrow palate, Hypoplasia of the maxilla, Downturned corners of mouth, Retrognathia, Intrau... ORPHA:2409
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Ectopic tooth eruption OMIM:606893
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Bifid uvula, Severe short stature, Delayed eruption of teeth, Retrognathia, ... ORPHA:2780
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border OMIM:601957
Kleefstra Syndrome
Delayed eruption of teeth, Downturned corners of mouth, Obesity, Tented upper lip vermilion, Mala... ORPHA:261494
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, Decreased body weigh... OMIM:608747
Hemochromatosis, Neonatal
Abnormality of iron homeostasis, Increased circulating iron concentration, Increased circulating ... OMIM:231100
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ... ORPHA:79230
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Delayed eruption of permanent teeth, Broad alveolar ridges, Facial hyperos... OMIM:218400
Neuronal Intestinal Pseudoobstruction
Natal tooth ORPHA:99811
Enamel-Renal Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... ORPHA:1031
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Craniolenticulosutural Dysplasia
Bifid uvula, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, Malar flattenin... OMIM:607812
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth OMIM:617105
Cockayne Syndrome Type 1
Abnormality of the dentition, Failure to thrive, Widely spaced primary teeth, Postnatal growth re... ORPHA:90321
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum ORPHA:3214
3M Syndrome
Delayed eruption of teeth, Long philtrum, Abnormal dental enamel morphology, Intrauterine growth ... ORPHA:2616
Ellis-Van Creveld Syndrome
Neonatal short-limb short stature, Natal tooth, Delayed eruption of teeth, Cleft upper lip, Dispr... OMIM:225500
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Failure to thrive, Delayed eruption of primary teeth OMIM:620099
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Failure to thrive, Postnatal growth retardation, Enamel hypoplasia, Sh... ORPHA:289157
Recon Progeroid Syndrome
Dental crowding, Growth delay, Prominence of the premaxilla, Smooth philtrum, Short stature, Thin... OMIM:620370
Dysosteosclerosis
Disproportionate short stature, Natal tooth, Absent paranasal sinuses, Delayed eruption of teeth,... OMIM:224300
Chst3-Related Skeletal Dysplasia
Rhizomelia, Disproportionate short-trunk short stature, Delayed eruption of teeth, Long philtrum ORPHA:263463
Craniometadiaphyseal Dysplasia
Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Malar flattening, Microdon... OMIM:269300
Trichothiodystrophy 3, Photosensitive
Carious teeth, Natal tooth, Failure to thrive, Intrauterine growth retardation, Short stature, Ec... OMIM:616395
Gapo Syndrome
Growth delay, Delayed eruption of teeth, Long philtrum, Micrognathia, Abnormal palate morphology,... ORPHA:2067
Melnick-Needles Syndrome
Tooth malposition, Craniofacial hyperostosis, Delayed eruption of teeth, Micrognathia, Short stature ORPHA:2484
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Abnormality of the dentition, Neonatal short-limb short stature,... ORPHA:289
Acrodysostosis
Hypoplasia of the maxilla, Delayed eruption of teeth, Open bite, Open mouth, Short stature, Mandi... ORPHA:950
Mucopolysaccharidosis, Type Ii
Severe short stature, Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, ... OMIM:309900
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Retrognathia, Gingival overgrowth, Narrow mouth, Malar flattening, Mil... OMIM:235510
Malan Syndrome
Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption... OMIM:614753
Rothmund-Thomson Syndrome
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Selective tooth agenesis,... ORPHA:2909
Ramon Syndrome
Delayed eruption of teeth, Decreased body weight, Short stature, Narrow palate, Gingival fibromat... OMIM:266270
De Barsy Syndrome
Delayed eruption of teeth, Failure to thrive, Postnatal growth retardation, Intrauterine growth r... ORPHA:2962
Hemochromatosis, Type 2B
Elevated transferrin saturation, Increased circulating iron concentration, Increased circulating ... OMIM:613313
Pseudohypoparathyroidism Type 1B
Short stature, Enamel hypoplasia, Delayed eruption of teeth ORPHA:94089
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Downturned corners of mouth, Failure to thrive, Widely spaced teeth, Open mouth, Advanced eruptio... OMIM:617865
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Short stature, Hypodontia, Natal tooth, Oligodontia OMIM:601345
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Agenesis of permanent teeth, Micrognathia, Micr... OMIM:268400
Pachyonychia Congenita
Natal tooth, Failure to thrive, Oral leukoplakia, Angular cheilitis, Advanced eruption of teeth ORPHA:2309
Kabuki Syndrome 2
Natal tooth, Dental malocclusion, Postnatal growth retardation, Intrauterine growth retardation, ... OMIM:300867
Brachydactyly, Type E1
Multiple impacted teeth, Moderately short stature OMIM:113300
Brachydactyly, Type B1
Delayed eruption of permanent teeth OMIM:113000
Barber-Say Syndrome
Wide mouth, Delayed eruption of teeth, Failure to thrive ORPHA:1231
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Failure to thrive, Thick upper lip vermilion, Intrauterine growth reta... OMIM:247200
Osteoglophonic Dysplasia
Severe short stature, Hypoplasia of the maxilla, Rhizomelia, Growth delay, Delayed eruption of te... OMIM:166250
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,... ORPHA:1071
Acrocallosal Syndrome
Everted upper lip vermilion, Postnatal growth retardation, Open mouth, Narrow mouth, Protruding t... OMIM:200990
Kleefstra Syndrome 1
Natal tooth, Persistence of primary teeth, Obesity, Malar flattening, Protruding tongue, Everted ... OMIM:610253
Cleidocranial Dysplasia 1
High, narrow palate, Narrow palate, Absent paranasal sinuses, Micrognathia, Hypoplastic frontal s... OMIM:119600
Lead Poisoning
Small for gestational age, Delayed puberty, Delayed eruption of teeth ORPHA:330015
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
High, narrow palate, Delayed eruption of teeth, Failure to thrive, Thick lower lip vermilion, Abn... ORPHA:369950
Dubowitz Syndrome
Carious teeth, Velopharyngeal insufficiency, Delayed eruption of teeth, Agenesis of permanent tee... OMIM:223370
Microphthalmia, Lenz Type
Abnormality of the dentition, Delayed eruption of teeth, Abnormal dental morphology, Orofacial cl... ORPHA:568
Frontometaphyseal Dysplasia 1
Dental malocclusion, Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary ... OMIM:305620
Char Syndrome
Agenesis of permanent teeth, Persistence of primary teeth, Malar flattening, Triangular mouth, Ev... ORPHA:46627
Kleefstra Syndrome Due To A Point Mutation
Abnormality of the dentition, Natal tooth, Failure to thrive, Thick lower lip vermilion, Large fo... ORPHA:261652
Elsahy-Waters Syndrome
Bifid uvula, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Long phil... OMIM:211380
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathia, Failure to thrive, Micrognath... OMIM:601812
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Gingivitis, Abnormality of the dentition, Delayed eruption of teeth, Cleft palate ORPHA:2314
Rothmund-Thomson Syndrome Type 2
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal ... ORPHA:221016
Trichodermodysplasia-Dental Alterations Syndrome
Abnormal dental morphology, Supernumerary tooth, Delayed eruption of teeth, Tooth agenesis ORPHA:3353
Rothmund-Thomson Syndrome Type 1
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal ... ORPHA:221008
Barber-Say Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Velopharyngeal insufficien... OMIM:209885
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Widely spaced teeth, Gingival overgrowth, Alveolar ridge overgrowth, M... OMIM:301072
Hennekam Syndrome
Abnormal oral mucosa morphology, Delayed eruption of teeth, Retrognathia, Tooth agenesis, Abnorma... ORPHA:2136
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Everted lower lip vermilion, T... ORPHA:534
Robinow Syndrome
Tooth malposition, Small for gestational age, Dental malocclusion, Dental crowding, Long philtrum... ORPHA:97360
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Tooth agenesis, Micrognathia, Abnormal palate morphology, Multiple unerupted teeth, Crowded maxil... ORPHA:2063
Genitopatellar Syndrome
Short stature, Micrognathia, Delayed eruption of teeth, Long philtrum ORPHA:85201
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased circulating iron conc... ORPHA:766
Gracile Syndrome
Decreased transferrin saturation, Elevated hepatic iron concentration, Increased circulating ferr... ORPHA:53693
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of primary teeth, Overweight, Dental crowding OMIM:619769
Robinow Syndrome, Autosomal Dominant 1
Narrow palate, Rhizomelia, Dental crowding, Downturned corners of mouth, Delayed eruption of teet... OMIM:180700
Apert Syndrome
Bifid uvula, Hypoplasia of the maxilla, Delayed eruption of teeth, Narrow palate, Mandibular prog... ORPHA:87
Cockayne Syndrome B
Severe short stature, Carious teeth, Dental malocclusion, Failure to thrive, Postnatal growth ret... OMIM:133540
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, ... OMIM:618727
Dubowitz Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Postnatal growth retardation, Intrauteri... ORPHA:235
Bent Bone Dysplasia Syndrome 1
Micrognathia, Natal tooth, Malar flattening, Gingival overgrowth OMIM:614592
Andersen-Tawil Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Growth delay, Persisten... ORPHA:37553
Spondyloenchondrodysplasia
Short stature, Disproportionate short-trunk short stature, Dental malocclusion, Delayed eruption ... ORPHA:1855
Monosomy 9Q22.3
Delayed eruption of teeth, Long philtrum, Large for gestational age, Narrow mouth, Orofacial clef... ORPHA:77301
Cherubism
Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin... OMIM:118400
Intellectual Developmental Disorder, Autosomal Dominant 54
Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth, Short stature, Growth de... OMIM:617799
Cornelia De Lange Syndrome 1
High, narrow palate, Downturned corners of mouth, Cleft upper lip, Widely spaced teeth, Long phil... OMIM:122470
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth ORPHA:375
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Short stature, Micrognathia, Natal tooth OMIM:616901
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Dental crowding, Delayed eruption of teeth, Micrognathia, Narrow mouth, Submucous cl... OMIM:300990
Cockayne Syndrome A
Carious teeth, Dental malocclusion, Failure to thrive, Intrauterine growth retardation, Delayed e... OMIM:216400
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Delayed eruption of primary teeth OMIM:300952
Teebi Hypertelorism Syndrome 1
Dental crowding, Natal tooth, Long philtrum, Micrognathia, Thin upper lip vermilion, Short stature OMIM:145420
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Downturned corners of mouth, Absent uvula, Thin upper lip vermilion, Orofacial clef... OMIM:268310
Multiple Pterygium-Malignant Hyperthermia Syndrome
Severe short stature, Downturned corners of mouth, Abnormal mandible morphology, Long philtrum, N... ORPHA:2215
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Delayed eruption of teeth, Micrognathia, Gingival overgrowth, Short st... OMIM:259600
Apert Syndrome
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Rhizomelic arm shortening, Malar fla... OMIM:101200
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Failure to thrive... ORPHA:476126
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental morphology, Hypodon... ORPHA:464
Osteopetrosis, Autosomal Recessive 2
Persistence of primary teeth, Carious teeth, Mandibular prognathia, Mandibular osteomyelitis OMIM:259710
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... ORPHA:2751
Hallermann-Streiff Syndrome
High, narrow palate, Narrow palate, Natal tooth, Dental malocclusion, Selective tooth agenesis, M... OMIM:234100
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Cleft lip, Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, Large for g... OMIM:280000
Carpenter Syndrome 1
Hypoplasia of the maxilla, Agenesis of permanent teeth, Persistence of primary teeth, Micrognathi... OMIM:201000
Wrinkly Skin Syndrome
Carious teeth, Delayed eruption of teeth, Long philtrum, Failure to thrive, Postnatal growth reta... ORPHA:2834
Microphthalmia, Syndromic 2
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Persistence of primar... OMIM:300166
Acrocraniofacial Dysostosis
Micrognathia, Advanced eruption of teeth, Short stature, Short philtrum, Cleft palate ORPHA:949
Shwachman-Diamond Syndrome
Carious teeth, Delayed eruption of teeth, Failure to thrive, Oral ulcer, Sinusitis, Short stature... ORPHA:811
Coffin-Siris Syndrome
Growth delay, Delayed eruption of teeth, Thick lower lip vermilion, Postnatal growth retardation,... ORPHA:1465
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Carious teeth, Periodontitis, Growth delay, Failure to thrive, Oral ulcer, Short stature, Delayed... ORPHA:79259
Pseudohypoparathyroidism Type 1C
Short stature, Obesity, Enamel hypoplasia, Delayed eruption of teeth ORPHA:79444
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Rhizomelic arm shortening, Gingival overgrowth, Short stature, Delayed eruption of teeth ORPHA:508542
Melnick-Needles Syndrome
Tooth malposition, Delayed eruption of teeth, Failure to thrive, Micrognathia, Obtuse angle of ma... OMIM:309350
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
High palate, Supernumerary tooth, Persistence of primary teeth OMIM:619752
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Tented upper lip vermilion, Short philtrum, Mandibular prognathia, Delayed eruption of permanent ... ORPHA:521445
Sotos Syndrome
High, narrow palate, Narrow jaw, Increased body weight, Advanced eruption of teeth, High palate, ... OMIM:117550
Trisomy 9P
Impacted tooth, Dental crowding, Non-midline cleft of the upper lip, Downturned corners of mouth ORPHA:236
Incontinentia Pigmenti
Conical tooth, Delayed eruption of teeth, Oligodontia, Hypodontia, Short stature OMIM:308300
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Gin... OMIM:135500
Raine Syndrome
Mandibular prognathia, Natal tooth, Micrognathia, Narrow mouth, Protruding tongue, Malar flatteni... OMIM:259775
Osteogenesis Imperfecta
Dentinogenesis imperfecta, Abnormality of the dentition, Carious teeth, Dental malocclusion, Dela... ORPHA:666
Mucopolysaccharidosis, Type Vi
Carious teeth, Delayed eruption of teeth, Disproportionate short-trunk short stature, Short statu... OMIM:253200
Rabson-Mendenhall Syndrome
Abnormality of the dentition, Dental crowding, Furrowed tongue, Intrauterine growth retardation, ... ORPHA:769
Wrinkly Skin Syndrome
Carious teeth, Microretrognathia, Delayed eruption of teeth, Long philtrum, Failure to thrive, In... OMIM:278250
Camurati-Engelmann Disease
Carious teeth, Craniofacial osteosclerosis, Delayed eruption of teeth, Slender build, Cachexia, D... ORPHA:1328
Codas Syndrome
Short stature, Enamel hypoplasia, Delayed eruption of teeth OMIM:600373
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Postnatal growth retardation, Intrauterine growth retardation, Persistence of prim... ORPHA:93325
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Retrognathia, Delayed eruption of teeth, Impacted tooth, Ankyloglossia, Persiste... ORPHA:740
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Micrognathia, Natal tooth OMIM:617802
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Natal tooth, Craniofacial osteosclerosis, Dental malocclusion, Dental crowding, Clef... OMIM:300373
Otopalatodigital Syndrome, Type I
Selective tooth agenesis, Narrow mouth, Malar flattening, Multiple impacted teeth, Absent frontal... OMIM:311300
Pitt-Hopkins Syndrome
Tooth malposition, Failure of eruption of permanent teeth, Growth delay, Failure to thrive, Postn... ORPHA:2896
Cockayne Syndrome
Severe short stature, Carious teeth, Dental malocclusion, Agenesis of permanent teeth, Abnormal d... ORPHA:191
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Retrognathia, Open mouth, Deep philtrum, High palate ORPHA:1675
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Retrognathia, Long philtrum, Micrognathia, Abnormality of dental eruption, E... ORPHA:96092
Pachyonychia Congenita 2
Angular cheilitis, Natal tooth, Oral leukoplakia OMIM:167210
Cornelia De Lange Syndrome
Downturned corners of mouth, Long philtrum, Widely spaced teeth, Delayed eruption of teeth, Failu... ORPHA:199
Wiedemann-Rautenstrauch Syndrome
Hypoplastic facial bones, Natal tooth, Downturned corners of mouth, Long philtrum, Delayed erupti... OMIM:264090
Pseudohypoparathyroidism Type 1A
Short stature, Obesity, Enamel hypoplasia, Delayed eruption of teeth ORPHA:79443
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Short philtrum, Natal tooth, Cleft palate OMIM:617337
Autosomal Recessive Hypophosphatemic Rickets
Short stature, Tooth abscess, Growth delay, Delayed eruption of teeth ORPHA:289176
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Carious teeth, Failure to thrive, Long philtrum, Widely spaced teeth, Thick ... OMIM:615873
Craniosynostosis And Dental Anomalies
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Dental crowding, High ... OMIM:614188
Schinzel-Giedion Syndrome
Macroglossia, Retrognathia, Delayed eruption of teeth, Failure to thrive in infancy, Micrognathia... ORPHA:798
Immunodeficiency 49
Short philtrum, Micrognathia, Natal tooth OMIM:617237
Stickler Syndrome
Bifid uvula, Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Cleft upper lip, Open b... ORPHA:828
Coffin-Siris Syndrome 1
Conical tooth, Retrognathia, Long philtrum, Thick lower lip vermilion, Delayed eruption of teeth,... OMIM:135900
Sponastrime Dysplasia
Mandibular prognathia, Rhizomelia, Disproportionate short-limb short stature, Intrauterine growth... ORPHA:93357
Familial Partial Lipodystrophy, Dunnigan Type
Advanced eruption of teeth ORPHA:2348
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hypoplastic facial bones, Rhizomelia, Cleft lip, Natal tooth, Microretrognathia, Hamartoma of ton... OMIM:616300
Charge Syndrome
Hypoplasia of the zygomatic bone, Cleft upper lip, Delayed eruption of teeth, Postnatal growth re... ORPHA:138
Hallermann-Streiff Syndrome
High, narrow palate, Abnormality of the dentition, Natal tooth, Micrognathia, Narrow mouth, Malar... ORPHA:2108
Osteopetrosis With Renal Tubular Acidosis
Tooth malposition, Abnormality of the dentition, Retrognathia, Failure to thrive, Thick lower lip... ORPHA:2785
Familial Osteodysplasia, Anderson Type
Tooth malposition, Carious teeth, Failure of eruption of permanent teeth, Malar flattening, Abnor... ORPHA:2769
Lethal Acantholytic Erosive Disorder
Intrauterine growth retardation, Natal tooth, Cleft palate ORPHA:158687
Doors Syndrome
Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Narrow palate, ... ORPHA:79500
Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:848
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Rhizomelia, Delayed eruption of teeth, Long philtrum, Widely spaced teeth, Microdontia, Short sta... OMIM:143095
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, F... OMIM:619503
Smith-Lemli-Opitz Syndrome
Rhizomelia, Microglossia, Growth delay, Long philtrum, Tooth agenesis, Abnormal dental enamel mor... ORPHA:818
Gapo Syndrome
High, narrow palate, Eruption failure, Long philtrum, Thick lower lip vermilion, Micrognathia, Gr... OMIM:230740
Beare-Stevenson Cutis Gyrata Syndrome
Bifid uvula, Narrow palate, Natal tooth, Gingival overgrowth, Narrow mouth, Malar flattening, Hig... OMIM:123790
Scalp-Ear-Nipple Syndrome
Abnormality of the dentition, Delayed eruption of teeth ORPHA:2036
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Neonatal short-limb short stature, Natal tooth, Long philtrum, Micrognathia, Protrudi... ORPHA:50945
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw ORPHA:199276
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth OMIM:609638
Autosomal Recessive Malignant Osteopetrosis
Premature loss of primary teeth, Growth delay, Delayed eruption of teeth ORPHA:667
Adnp Syndrome
Thick lower lip vermilion, Thin upper lip vermilion, Smooth philtrum, Advanced eruption of teeth,... ORPHA:404448
Focal Dermal Hypoplasia
Dental malocclusion, Delayed eruption of teeth, Cleft upper lip, Oligodontia, Hypodontia, Enamel ... OMIM:305600
Opitz Gbbb Syndrome
Cleft lip, Natal tooth, Long philtrum, Ankyloglossia, Micrognathia, Hypodontia, Short stature, Hi... ORPHA:2745
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Natal tooth, Dental crowding, Dental malocclusion, Failure to thrive, Obesity, Hyp... ORPHA:353281
Endocrine-Cerebroosteodysplasia
Natal tooth, Thick upper lip vermilion, Micrognathia, Median cleft palate, Median cleft upper lip... OMIM:612651
Familial Adenomatous Polyposis 1
Carious teeth, Odontoma, Eruption failure, Supernumerary tooth OMIM:175100
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hamartoma of tongue, Intrauterine growth retardation, Median cleft palate, Median cl... OMIM:269860
Pallister-Hall Syndrome
Microglossia, Natal tooth, Cleft upper lip, Intrauterine growth retardation, Short stature, Growt... OMIM:146510
Fgfr2-Related Bent Bone Dysplasia
Micrognathia, Natal tooth, Gingival overgrowth ORPHA:313855
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Submucous cleft hard pala... ORPHA:2250
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Advanced eruption of teeth, Micrognathia ORPHA:280365
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Bifid uvula, Carious teeth, Natal tooth, Branchial cyst, Downturned corners of mouth, Ankylogloss... OMIM:620186
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ... ORPHA:465508
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Narrow palate, Carious teeth, Dental crowding, Natal tooth, Dental malocclusion, Failure to thriv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Narrow palate, Carious teeth, Dental crowding, Natal tooth, Dental malocclusion, Failure to thriv... ORPHA:353277
Mowat-Wilson Syndrome
Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed... ORPHA:261537
Singleton-Merten Syndrome 1
Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Decreas... OMIM:182250
Mowat-Wilson Syndrome
Tooth malposition, Delayed eruption of teeth, Widely spaced teeth, Submucous cleft hard palate, S... OMIM:235730
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid uvula, Abnormal jaw morphology, Tooth malposition, Dental crowding, Submucous cleft of soft... ORPHA:261552
Pallister-Killian Syndrome
Bifid uvula, Rhizomelia, Growth delay, Delayed eruption of teeth, Long philtrum, Obesity, Microgn... OMIM:601803
Floating-Harbor Syndrome
Hypoplasia of the maxilla, Carious teeth, Growth delay, Persistence of primary teeth, Oligodontia... ORPHA:2044
Gardner Syndrome
Abnormality of the dentition, Multiple unerupted teeth, Supernumerary tooth, Odontoma ORPHA:79665
Spondylocarpotarsal Synostosis Syndrome
Disproportionate short-trunk short stature, Failure of eruption of permanent teeth, Cleft palate,... OMIM:272460
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Elevated hepatic iron concentration ORPHA:231222
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft lip, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft palate OMIM:617925
Wiedemann-Rautenstrauch Syndrome
Abnormality of the dentition, Natal tooth, Downturned corners of mouth, Retrognathia, Failure to ... ORPHA:3455
Familial Adenomatous Polyposis
Abnormal cementum morphology, Abnormality of the dentition, Eruption failure, Odontoma, Supernume... ORPHA:733
Meckel Syndrome, Type 1
Natal tooth, Cleft upper lip, Intrauterine growth retardation, Micrognathia, Thin upper lip vermi... OMIM:249000
Lacrimoauriculodentodigital Syndrome 1
Carious teeth, Microdontia, Delayed eruption of primary teeth, Absence of Stensen duct, Hypodonti... OMIM:149730
Orofaciodigital Syndrome Xiv
Cleft lip, Natal tooth, Microretrognathia, Hamartoma of tongue, Micrognathia, Bifid tongue, Super... OMIM:615948
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Increased total iron binding capacity, Hyperglycin... ORPHA:309854
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Abnormality of iro... OMIM:222470
Specc1L-Related Hypertelorism Syndrome
Long philtrum, Advanced eruption of teeth, Orofacial cleft, Everted lower lip vermilion, Thin ver... ORPHA:1519
Genitopatellar Syndrome
Micrognathia, Delayed eruption of teeth OMIM:606170
Restrictive Dermopathy 1
Natal tooth, Temporomandibular joint ankylosis, Intrauterine growth retardation, Micrognathia, Na... OMIM:275210
Dominant Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:231226
Restrictive Dermopathy
Natal tooth, Temporomandibular joint ankylosis, Intrauterine growth retardation, Micrognathia, Na... ORPHA:1662
Pallister-Hall Syndrome
Bifid uvula, Cleft lip, Microretrognathia, Natal tooth, Microglossia, Intrauterine growth retarda... ORPHA:672
Sotos Syndrome
Abnormality of the dentition, Hypodontia, Delayed eruption of permanent teeth, Agenesis of perman... ORPHA:821
Beta-Thalassemia Major
Abnormality of iron homeostasis ORPHA:231214
Syndromic Diarrhea
Abnormality of iron homeostasis ORPHA:84064
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
High palate, Persistence of primary teeth OMIM:147060

Histopathology

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

There is no histopathology data for Dip2a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dip2a.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Peri-natal growth retardation rate and fat mass accumulation in mice lacking Dip2A is dependent on the dietary composition. Transgenic research (November 2020) Dip2atm2a(KOMP)Wtsi 33184751
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Dip2atm2b(KOMP)Wtsi