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Gene: Dip2a MGI:2385920

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Gene Summary

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

Order Alleles

IMPC Data Collections

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
increased circulating iron level Dip2atm2b(KOMP)Wtsi HOM   Early adult 2.81×10-05

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
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.

DSS Histology

Images

8 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Forepaw

15 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Dip2atm2a(KOMP)Wtsi
WT, Female, WTSI
Dip2atm2a(KOMP)Wtsi
WT, Female, WTSI
Dip2atm2a(KOMP)Wtsi
WT, Female, WTSI
Dip2atm2a(KOMP)Wtsi
WT, Female, WTSI
Dip2atm2a(KOMP)Wtsi
WT, Female, WTSI

View all 125 images

Dip2atm2b(KOMP)Wtsi
TS20 hindbrain, HET, Female, WTSI
Dip2atm2b(KOMP)Wtsi
TS20 chorioallantoic placenta, HET, Female, WTSI
Dip2atm2b(KOMP)Wtsi
TS20 eye, HET, Female, WTSI
Dip2atm2b(KOMP)Wtsi
TS20 liver, HET, Female, WTSI

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
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... ORPHA:2972
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition ORPHA:2222
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia, Short stature OMIM:613382
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... ORPHA:2025
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Lowry-Maclean Syndrome
Delayed eruption of teeth, Intrauterine growth retardation, Cleft palate OMIM:600252
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... ORPHA:2228
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... OMIM:265900
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Short stature, Hypodontia ORPHA:63442
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta, Short stature ORPHA:71267
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition ORPHA:2026
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat... ORPHA:3019
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Short Stature, Dauber-Argente Type
Delayed eruption of teeth, Postnatal growth retardation, Short stature OMIM:619489
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... ORPHA:2325
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased body mass index, Increased body weight, Growth delay, Macrog... OMIM:614450
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp... OMIM:618761
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Enamel hypoplasia, Short stature, Obesity OMIM:612463
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Short stature, Hypodontia, Delayed puberty ORPHA:1816
Immunodeficiency 33
Delayed eruption of teeth, Hypodontia, Conical tooth OMIM:300636
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia OMIM:183300
Laron Syndrome
Delayed eruption of teeth, Severe short stature, Micrognathia, Truncal obesity, Tooth agenesis, D... ORPHA:633
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Cachexia, Abnormal soft palat... ORPHA:884
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Small for gestational age, Short stature, Micrognathia, Postnatal grow... ORPHA:73272
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Short stature, Micrognathia, Tooth agenes... ORPHA:2863
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Mandibular prognathia, Postnatal growth retardation, Thick lower lip vermilion, Wide mouth, Thick... OMIM:309545
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Short stature, Micrognathia, Persistence of primary teeth, Thick lower lip vermi... OMIM:618342
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Short stature, Micrognathia, High palate, Narrow mouth, Malar flatteni... OMIM:613849
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, Short stature, Abnormal dental enamel morphology, Downturned corners o... ORPHA:2107
Three M Syndrome 2
Delayed eruption of teeth, Severe short stature, Small for gestational age, Short stature, Dental... OMIM:612921
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow OMIM:618506
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Enamel hypoplasia, Short stature, Hypodontia OMIM:616029
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion ORPHA:181
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron OMIM:603358
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Short stature, Thick lower lip vermilion, Cleft palate, Wide mouth, Ma... OMIM:614607
48,Xxyy Syndrome
Broad jaw, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth... ORPHA:10
Weismann-Netter Syndrome
Severe short stature, Delayed eruption of permanent teeth OMIM:112350
Acrootoocular Syndrome
Delayed eruption of teeth, Small for gestational age, Short stature, Micrognathia, Grayish enamel... ORPHA:2980
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta OMIM:615905
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Short stature, Micrognathia, Hypoplasia of the maxill... OMIM:257850
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
4H Leukodystrophy
Delayed eruption of teeth, Short stature, Abnormality of the dentition, Hypodontia, Delayed puberty ORPHA:289494
Pycnodysostosis
Short stature, Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal si... OMIM:265800
Silver-Russell Syndrome Due To 11P15 Microduplication
Small for gestational age, Short stature, Postnatal growth retardation, Severe intrauterine growt... ORPHA:231144
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H... OMIM:619736
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology ORPHA:2238
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Short stature, Abnormal dental enamel morpholog... ORPHA:1133
Coffin-Siris Syndrome 3
Short stature, Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permanent teeth, Thick... OMIM:614608
Temple-Baraitser Syndrome
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Short stature... ORPHA:420561
Odontochondrodysplasia
Delayed eruption of teeth, Retrognathia, Short stature, Dentinogenesis imperfecta ORPHA:166272
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Small for gestational age, Micrognathia, Carious teeth, Thin vermilion... OMIM:214150
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Glycogen Storage Disease Vi
Postnatal growth retardation, Failure to thrive in infancy OMIM:232700
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Wide mouth, Short philtrum... ORPHA:137834
Aarskog-Scott Syndrome
Delayed eruption of teeth, Short stature, Cleft upper lip, Hypoplasia of the maxilla, Abnormality... ORPHA:915
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Short stature, Moderately short stature, Dental malocclusion, High pal... OMIM:612350
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... ORPHA:952
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum OMIM:618825
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Taurodontia, ... OMIM:157980
Momo Syndrome
Delayed eruption of teeth, Short stature, Large for gestational age, Thick lower lip vermilion, D... ORPHA:2563
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Dental crowding, Macroglossia, High palate, Thick vermilion border, Lo... OMIM:616354
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth OMIM:619356
Pycnodysostosis
Obtuse angle of mandible, Rhizomelia, Delayed eruption of primary teeth, Micrognathia, Overweight... ORPHA:763
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth OMIM:619797
Osteoglosphonic Dysplasia
Severe short stature, Failure to thrive in infancy, Rhizomelia, Micrognathia, Tooth agenesis, Mul... ORPHA:2645
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of... ORPHA:50814
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Natal tooth, Short stature, Growth delay, Oligodontia, Hypodontia OMIM:614381
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased serum iron, Elevated hepatic iron concentration OMIM:206100
Odontomicronychial Dysplasia
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... ORPHA:1811
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, Small for gestational age, Short stature, High palate, Advanced eruption o... OMIM:262190
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed eruption of teeth, Short stature, Oligodontia, Hypodontia, Delayed puberty ORPHA:447896
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Enamel hypoplasia, Short stature, Obesity OMIM:612462
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Short stature, D... ORPHA:819
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Micrognathia, Carious teeth, ... OMIM:190350
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Short stature, Abnormality of the dentition, Oligodontia, Microdontia,... ORPHA:2315
Cleidocranial Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Short stature, Abnormal dental ename... ORPHA:1452
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth OMIM:272300
Short Syndrome
Delayed eruption of teeth, Small for gestational age, Micrognathia, Dental malocclusion, Downturn... OMIM:269880
Emanuel Syndrome
Delayed eruption of teeth, Broad jaw, Dental crowding, Micrognathia, Submucous cleft lip, Cleft p... ORPHA:96170
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Short stature, Open bite, Abnormality of dental eruption, Dental malocclus... ORPHA:1327
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Short stature, Abnormal dental enamel morph... ORPHA:1782
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Enamel hypoplasia, Short stature, Obesity OMIM:103580
Codas Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Short s... ORPHA:1458
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Truncal obesity, Abdominal obesity, Short stature OMIM:618160
Char Syndrome
Persistence of primary teeth, No permanent dentition, Thick vermilion border, Everted lower lip v... ORPHA:46627
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Small for gestational... OMIM:619148
Marbach-Rustad Progeroid Syndrome
Short stature, Delayed eruption of primary teeth, Micrognathia, Eruption failure, Growth delay, H... OMIM:619322
Andersen Cardiodysrhythmic Periodic Paralysis
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Short stature, Micrognathia, Hy... OMIM:170390
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Submucous cleft hard palate, Cleft palat... ORPHA:2712
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Short stature, Growth delay, Thick vermilion border, Everted lower lip... OMIM:615866
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... ORPHA:96263
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Carious teeth, Growth delay, Enamel hypoplasia, Failure to thrive OMIM:277440
Odontochondrodysplasia 1
Delayed eruption of teeth, Short stature, Mesomelic short stature, Long philtrum, Dentinogenesis ... OMIM:184260
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Severe short stature, Failure of eruption of permanent teeth ORPHA:3238
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Obesity, Growth delay, Delayed eruption of permanent teeth, Periodon... OMIM:619269
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Mild postnatal growt... OMIM:101800
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Overweight, Carious teeth, Obesity, Yellow-brown discoloration of the ... OMIM:619229
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... OMIM:204690
Eiken Syndrome
Short stature, Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multipl... OMIM:600002
Coffin-Lowry Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Short stature, ... ORPHA:192
Cole-Carpenter Syndrome
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Micrognathia, Intrau... ORPHA:2050
Cockayne Syndrome Type 2
Mandibular prognathia, Delayed eruption of primary teeth, Intrauterine growth retardation, Widely... ORPHA:90322
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Emanuel Syndrome
Broad jaw, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Cleft palate, High p... OMIM:609029
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Severe short stature, Micrognathia, High, narrow palate, Submucous cle... ORPHA:2780
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Open ... ORPHA:950
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ... ORPHA:2409
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Short stature, Abnormal dental enamel morpholog... ORPHA:96264
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r... OMIM:218400
Vascular Malformation, Primary Intraosseous
Ectopic tooth eruption, Gingival bleeding OMIM:606893
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Short stature, Postnatal growth retardation, Enamel hypoplasia, Failur... ORPHA:289157
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion OMIM:601957
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Enamel hypoplasia, Failure to thrive, Growth delay OMIM:264700
Insulin-Like Growth Factor I Deficiency
Short stature, Micrognathia, Postnatal growth retardation, Decreased body weight, Intrauterine gr... OMIM:608747
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Kleefstra Syndrome
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's... ORPHA:261494
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth OMIM:617105
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Carious teeth, Cleft palate, ... OMIM:607812
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Cockayne Syndrome Type 1
Mandibular prognathia, Delayed eruption of primary teeth, Abnormality of the dentition, Postnatal... ORPHA:90321
Dysosteosclerosis
Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Disproportionate sh... OMIM:224300
Neuronal Intestinal Pseudoobstruction
Natal tooth ORPHA:99811
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum ORPHA:3214
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo... OMIM:225500
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Failure to thrive, Delayed eruption of primary teeth OMIM:620099
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Small for gestational age, Abnormal dental enamel morphology, Selectiv... ORPHA:2909
Recon Progeroid Syndrome
Prominence of the premaxilla, Dental crowding, Short stature, Growth delay, Delayed eruption of p... OMIM:620370
3M Syndrome
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Everted lower lip ve... ORPHA:2616
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Dental crowding, Short stature, Carious teeth, Absent paranas... OMIM:269300
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Disproportionate short-trunk short stature, Rhizomelia, Long philtrum ORPHA:263463
Trichothiodystrophy 3, Photosensitive
Natal tooth, Short stature, Carious teeth, Eclabion, Intrauterine growth retardation, Failure to ... OMIM:616395
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Short stature, Micrognathia, Tooth malposition ORPHA:2484
Gapo Syndrome
Mandibular prognathia, Delayed eruption of teeth, Short stature, Micrognathia, Growth delay, Ever... ORPHA:2067
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical... ORPHA:289
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Mild postnatal growth retardation, Gingival overgrowth, Narrow palate,... OMIM:235510
Ramon Syndrome
Delayed eruption of teeth, Short stature, Gingival fibromatosis, Narrow palate, Decreased body we... OMIM:266270
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron OMIM:613313
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... OMIM:614753
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Natal tooth, Oligodontia, Short stature, Hypodontia OMIM:601345
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermilion, Advanced eruption ... OMIM:617865
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Short stature, Micro... OMIM:268400
Pachyonychia Congenita
Natal tooth, Angular cheilitis, Advanced eruption of teeth, Failure to thrive, Oral leukoplakia ORPHA:2309
Kabuki Syndrome 2
Natal tooth, Short stature, Micrognathia, Postnatal growth retardation, Lower lip pit, Dental mal... OMIM:300867
Brachydactyly, Type E1
Moderately short stature, Multiple impacted teeth OMIM:113300
De Barsy Syndrome
Delayed eruption of teeth, Short stature, Postnatal growth retardation, Narrow mouth, High palate... ORPHA:2962
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Severe short stature, Short stature, Thick lower lip vermilion, Macrog... OMIM:309900
Brachydactyly, Type B1
Delayed eruption of permanent teeth OMIM:113000
Barber-Say Syndrome
Delayed eruption of teeth, Failure to thrive, Wide mouth ORPHA:1231
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft palate, Intrauterine gro... OMIM:247200
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... OMIM:200990
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Obesity, Mac... OMIM:610253
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Severe short stature, Rhizomelia, Hypoplasia of... OMIM:166250
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... ORPHA:1071
Rothmund-Thomson Syndrome Type 2
Delayed eruption of teeth, Small for gestational age, Abnormal dental enamel morphology, Short st... ORPHA:221016
Cleidocranial Dysplasia 1
Short stature, Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, nar... OMIM:119600
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Small for gestational age, Abnormal dental enamel morphology, Short st... ORPHA:221008
Dubowitz Syndrome
Delayed eruption of teeth, Short stature, Micrognathia, Carious teeth, Postnatal growth retardati... OMIM:223370
Lead Poisoning
Delayed eruption of teeth, Small for gestational age, Delayed puberty ORPHA:330015
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal... OMIM:305620
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l... ORPHA:369950
Microphthalmia, Lenz Type
Delayed eruption of teeth, Short stature, Abnormal dental morphology, Abnormality of the dentitio... ORPHA:568
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology ORPHA:3353
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Short stature, Abnormality of the dentition, Large for gestational age, Thick lower ... ORPHA:261652
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Retrognathia... OMIM:601812
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph... OMIM:209885
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Cleft palate, Gingivitis, Abnormality of the dentition ORPHA:2314
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Short stature, Gingival overgrowth, Alveolar ridge overgrowth, Truncal... OMIM:301072
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... OMIM:211380
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, S... ORPHA:534
Hennekam Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Mild post... ORPHA:2136
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Micrognathia, Crowded maxillary incisors, Narrow palate, Tooth agenesis, Multiple unerupted teeth... ORPHA:2063
Robinow Syndrome
Small for gestational age, Dental crowding, Short stature, Micrognathia, Persistence of primary t... ORPHA:97360
Genitopatellar Syndrome
Delayed eruption of teeth, Long philtrum, Short stature, Micrognathia ORPHA:85201
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... ORPHA:766
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
High palate, Persistence of primary teeth OMIM:147060
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Overweight, Dental crowding, Persistence of primary teeth OMIM:619769
Robinow Syndrome, Autosomal Dominant 1
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Sho... OMIM:180700
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Narrow palate, Cleft... ORPHA:87
Spondyloenchondrodysplasia
Delayed eruption of teeth, Dental malocclusion, Short stature, Disproportionate short-trunk short... ORPHA:1855
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar... OMIM:618727
Dubowitz Syndrome
Delayed eruption of teeth, Short stature, Abnormality of the dentition, Micrognathia, Postnatal g... ORPHA:235
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... OMIM:118400
Cockayne Syndrome B
Mandibular prognathia, Severe short stature, Small for gestational age, Delayed eruption of prima... OMIM:133540
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Large for gestational age, Orofaci... ORPHA:77301
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Short stature, Micrognathia OMIM:616901
Intellectual Developmental Disorder, Autosomal Dominant 54
Short stature, Small for gestational age, Dental crowding, Delayed eruption of primary teeth, Gro... OMIM:617799
Bent Bone Dysplasia Syndrome 1
Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia OMIM:614592
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Short stature, Micrognath... ORPHA:37553
Cornelia De Lange Syndrome 1
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Micrognathia, Cleft upper lip... OMIM:122470
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth ORPHA:375
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Short stature, Micrognathia... OMIM:300990
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Delayed eruption of primary teeth OMIM:300952
Multiple Pterygium-Malignant Hyperthermia Syndrome
Severe short stature, Exaggerated cupid's bow, Narrow mouth, Abnormal mandible morphology, Cleft ... ORPHA:2215
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Dental malocclusion, Cleft palate, Narrow palat... OMIM:101200
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Dental crowding, Short stature, Micrognathia, Long philtrum OMIM:145420
Cockayne Syndrome A
Mandibular prognathia, Short stature, Delayed eruption of primary teeth, Carious teeth, Dental ma... OMIM:216400
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Micrognathia, Abnormality of the dentition, Eruption failure, High palate, Long ... ORPHA:476126
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Short stature, Micrognathia, Hypoplasia of the maxilla, Gingival overg... OMIM:259600
Robinow Syndrome, Autosomal Recessive 1
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Short stature, Micrognathi... OMIM:268310
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth OMIM:259710
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Short s... ORPHA:464
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Enamel hypoplasia, Short stature ORPHA:94089
Hallermann-Streiff Syndrome
Natal tooth, Small for gestational age, Selective tooth agenesis, Proportionate short stature, Mi... OMIM:234100
Carpenter Syndrome 1
Short stature, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Obesity, Ag... OMIM:201000
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Delayed eruption of teeth, Large for gestational age, Cleft lip, Thick lower lip vermilion, Cleft... OMIM:280000
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Enamel hypoplasia, Short stature, Obesity ORPHA:79444
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Short stature, Hamartoma of tongue, Micrognathia, Unilateral alveo... ORPHA:2751
Shwachman-Diamond Syndrome
Delayed eruption of teeth, Sinusitis, Short stature, Carious teeth, Oral ulcer, Growth delay, Fai... ORPHA:811
Acrocraniofacial Dysostosis
Short stature, Micrognathia, Cleft palate, Short philtrum, Advanced eruption of teeth ORPHA:949
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Postnatal growth retardation, Thick lower li... ORPHA:1465
Wrinkly Skin Syndrome
Delayed eruption of teeth, Short stature, Carious teeth, Postnatal growth retardation, High palat... ORPHA:2834
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Short stature, Persistence of primary teeth, Supernumerary tooth, Subm... OMIM:300166
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Short stature, Carious teeth, Oral ulcer, Gingivitis, Growth delay, Delayed eruption of permanent... ORPHA:79259
Melnick-Needles Syndrome
Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Cleft palate, Tooth malpositio... OMIM:309350
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short phi... ORPHA:521445
Trisomy 9P
Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth ORPHA:236
Sotos Syndrome
Mandibular prognathia, High, narrow palate, Increased body weight, Narrow jaw, Narrow palate, Hig... OMIM:117550
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Supernumerary tooth, High palate, Persistence of primary teeth OMIM:619752
Incontinentia Pigmenti
Delayed eruption of teeth, Short stature, Conical tooth, Oligodontia, Hypodontia OMIM:308300
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated hepatic i... OMIM:615234
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Rhizomelic arm shortening, Short stature, Gingival overgrowth ORPHA:508542
Rabson-Mendenhall Syndrome
Mandibular prognathia, Dental crowding, Short stature, Abnormality of the dentition, Gingival ove... ORPHA:769
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Gingival fibromatosis, Dow... OMIM:135500
Raine Syndrome
Mandibular prognathia, Natal tooth, Short stature, Micrognathia, Protruding tongue, Gingival over... OMIM:259775
Osteogenesis Imperfecta
Delayed eruption of teeth, Abnormality of dental color, Small for gestational age, Abnormal denta... ORPHA:666
Wrinkly Skin Syndrome
Microretrognathia, Delayed eruption of teeth, Short stature, Carious teeth, High palate, Long phi... OMIM:278250
Camurati-Engelmann Disease
Delayed eruption of teeth, Cachexia, Carious teeth, Craniofacial osteosclerosis, Delayed puberty,... ORPHA:1328
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Short stature, Carious teeth, Disproportionate short-trunk short statu... OMIM:253200
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Persistence of primary teeth, Carious teeth, Postnatal growth retardation, Growth ... ORPHA:93325
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Enamel hypoplasia, Short stature, Obesity ORPHA:79443
Codas Syndrome
Delayed eruption of teeth, Enamel hypoplasia, Short stature OMIM:600373
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Short stature, Micrognathia, Cleft uppe... OMIM:300373
Otopalatodigital Syndrome, Type I
Short stature, Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted ... OMIM:311300
Hutchinson-Gilford Progeria Syndrome
Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,... ORPHA:740
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Micrognathia OMIM:617802
Pitt-Hopkins Syndrome
Postnatal growth retardation, Wide mouth, Growth delay, Thick vermilion border, Short philtrum, F... ORPHA:2896
8P Inverted Duplication/Deletion Syndrome
Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide mouth, Everted lower lip ... ORPHA:96092
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Deep philtrum, High palate, Open mouth, Retrognathia ORPHA:1675
Wiedemann-Rautenstrauch Syndrome
Delayed eruption of teeth, Natal tooth, Small for gestational age, Short stature, Micrognathia, H... OMIM:264090
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Short philtrum, Cleft palate OMIM:617337
Cockayne Syndrome
Severe short stature, Abnormal dental morphology, Delayed eruption of primary teeth, Cachexia, Ca... ORPHA:191
Pachyonychia Congenita 2
Oral leukoplakia, Natal tooth, Angular cheilitis OMIM:167210
Cornelia De Lange Syndrome
Delayed eruption of teeth, Short stature, Micrognathia, Cleft palate, Downturned corners of mouth... ORPHA:199
Helsmoortel-Van Der Aa Syndrome
Thin upper lip vermilion, Short stature, Carious teeth, High, narrow palate, Thick lower lip verm... OMIM:615873
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Short stature, Hypoplasia of t... OMIM:614188
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Failure to thrive in infancy, Micrognathia, Abnormality of the gingiva... ORPHA:798
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Growth delay, Short stature, Tooth abscess ORPHA:289176
Immunodeficiency 49
Natal tooth, Short philtrum, Micrognathia OMIM:617237
Stickler Syndrome
Short stature, Abnormal dental enamel morphology, Cachexia, Micrognathia, Hypoplasia of the maxil... ORPHA:828
Coffin-Siris Syndrome 1
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Conical tooth, Postnatal grow... OMIM:135900
Charge Syndrome
Delayed eruption of teeth, Short stature, Cleft upper lip, Abnormal soft palate morphology, Postn... ORPHA:138
Familial Partial Lipodystrophy, Dunnigan Type
Advanced eruption of teeth ORPHA:2348
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Small for gestational age, Rhizomelia, Hypoplasi... ORPHA:93357
Hallermann-Streiff Syndrome
Natal tooth, Proportionate short stature, Micrognathia, Abnormality of the dentition, High, narro... ORPHA:2108
Osteopetrosis With Renal Tubular Acidosis
Short stature, Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Thick lo... ORPHA:2785
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Rhizomelia, Hamartoma of tongue, Cleft lip, Hypoplastic facial bo... OMIM:616300
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ... ORPHA:2769
Lethal Acantholytic Erosive Disorder
Natal tooth, Cleft palate, Intrauterine growth retardation ORPHA:158687
Doors Syndrome
Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentition, Thick lower lip v... ORPHA:79500
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Delayed eruption of teeth, Short stature, Rhizomelia, High palate, Widely spaced teeth, Long phil... OMIM:143095
Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:848
Smith-Lemli-Opitz Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Short stature, Micrognathia, Rhizo... ORPHA:818
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Thin upper lip vermilion, Delayed eruption of teeth, Dental crowding, Clef... OMIM:619503
Gapo Syndrome
Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, Growth delay, Lon... OMIM:230740
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Malar flattening, Bif... OMIM:123790
Blomstrand Lethal Chondrodysplasia
Natal tooth, Rhizomelia, Protruding tongue, Micrognathia, Long philtrum, Malar flattening, Neonat... ORPHA:50945
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Abnormality of the dentition ORPHA:2036
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw ORPHA:199276
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Growth delay, Premature loss of primary teeth ORPHA:667
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth OMIM:609638
Focal Dermal Hypoplasia
Delayed eruption of teeth, Short stature, Cleft upper lip, Dental malocclusion, Cleft palate, Oli... OMIM:305600
Adnp Syndrome
Thin upper lip vermilion, Short stature, Thick lower lip vermilion, Truncal obesity, Advanced eru... ORPHA:404448
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Dental crowding, Short stature, Carious teeth, Supernumerary tooth, Talon cusp, Dent... ORPHA:353281
Opitz Gbbb Syndrome
Natal tooth, Short stature, Micrognathia, Cleft lip, Cleft palate, High palate, Hypodontia, Long ... ORPHA:2745
Endocrine-Cerebroosteodysplasia
Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Thick upper lip vermilion, Medi... OMIM:612651
Familial Adenomatous Polyposis 1
Eruption failure, Supernumerary tooth, Carious teeth, Odontoma OMIM:175100
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Hamartoma of tongue, Lobulated tongue, Intrauterine growth retarda... OMIM:269860
Pallister-Hall Syndrome
Natal tooth, Short stature, Cleft upper lip, Cleft palate, Intrauterine growth retardation, Micro... OMIM:146510
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Advanced eruption of teeth, Micrognathia ORPHA:280365
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... ORPHA:2250
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:465508
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thin upper lip vermilion, Natal tooth, Short stature, Micrognathia, Carious teeth... OMIM:620186
Fgfr2-Related Bent Bone Dysplasia
Natal tooth, Gingival overgrowth, Micrognathia ORPHA:313855
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Dental crowding, Short stature, Micrognathia, Carious teeth, Postnatal growth retard... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Dental crowding, Short stature, Micrognathia, Carious teeth, Postnatal growth retard... ORPHA:353277
Mowat-Wilson Syndrome
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Sh... ORPHA:2152
Singleton-Merten Syndrome 1
Thin upper lip vermilion, Short stature, Hypoplasia of the maxilla, Carious teeth, Eruption failu... OMIM:182250
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Sh... ORPHA:261537
Mowat-Wilson Syndrome
Delayed eruption of teeth, Short stature, Submucous cleft hard palate, Cleft palate, Widely space... OMIM:235730
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Sh... ORPHA:261552
Floating-Harbor Syndrome
Small for gestational age, Short stature, Persistence of primary teeth, Hypoplasia of the maxilla... ORPHA:2044
Gardner Syndrome
Odontoma, Multiple unerupted teeth, Supernumerary tooth, Abnormality of the dentition ORPHA:79665
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Elevated hepatic iron concentration ORPHA:231222
Spondylocarpotarsal Synostosis Syndrome
Failure of eruption of permanent teeth, Enamel hypoplasia, Disproportionate short-trunk short sta... OMIM:272460
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Cleft palate OMIM:617925
Meckel Syndrome, Type 1
Thin upper lip vermilion, Natal tooth, Cleft upper lip, Micrognathia, Cleft palate, Wide mouth, L... OMIM:249000
Familial Adenomatous Polyposis
Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Abnormal cementum ... ORPHA:733
Pallister-Killian Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Tented upper lip vermilion, Rhizomelia, Micr... OMIM:601803
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Thin upper lip vermilion, Short stature, Abnormality of the dentition, Retrognathia,... ORPHA:3455
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... OMIM:149730
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth... OMIM:615948
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Hyperglycinemia, Increased total iron binding capa... ORPHA:309854
Specc1L-Related Hypertelorism Syndrome
Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, Advanced erup... ORPHA:1519
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis OMIM:222470
Genitopatellar Syndrome
Delayed eruption of teeth, Micrognathia OMIM:606170
Restrictive Dermopathy 1
Natal tooth, Micrognathia, Submucous cleft hard palate, Temporomandibular joint ankylosis, Narrow... OMIM:275210
Restrictive Dermopathy
Natal tooth, Micrognathia, Submucous cleft hard palate, Temporomandibular joint ankylosis, Narrow... ORPHA:1662
Dominant Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:231226
Sotos Syndrome
No permanent dentition, Delayed eruption of permanent teeth, Hypodontia, Abnormality of the denti... ORPHA:821
Pallister-Hall Syndrome
Microretrognathia, Natal tooth, Short stature, Accessory oral frenulum, Large for gestational age... ORPHA:672
Beta-Thalassemia Major
Abnormality of iron homeostasis ORPHA:231214
Syndromic Diarrhea
Abnormality of iron homeostasis ORPHA:84064

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 PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Dip2atm2b(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Dip2atm2b(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Dip2atm2b(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Dip2atm2b(KOMP)Wtsi PMC5827107

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Dip2atm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Dip2atm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Dip2atm2b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Dip2atm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dip2atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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