Gene Summary

Name:
chromodomain helicase DNA binding protein 1
Synonyms:
4930525N21Rik

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
decreased mean corpuscular hemoglobin concentration Chd1tm1b(KOMP)Wtsi HET Early adult 4.43×10-05
anophthalmia Chd1tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal embryo size Chd1tm1b(KOMP)Wtsi HET E9.5 0.00
preweaning lethality, complete penetrance Chd1tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal eye morphology Chd1tm1b(KOMP)Wtsi HET E12.5 0.00
increased grip strength Chd1tm1b(KOMP)Wtsi HET Early adult 2.82×10-05
abnormal maxilla morphology Chd1tm1b(KOMP)Wtsi HET Early adult 1.58×10-05
embryonic lethality prior to organogenesis Chd1tm1b(KOMP)Wtsi HOM   E9.5 0.00
decreased red blood cell distribution width Chd1tm1b(KOMP)Wtsi HET Early adult 7.08×10-05
abnormal tooth morphology Chd1tm1b(KOMP)Wtsi HET Early adult 1.58×10-05
decreased mean corpuscular hemoglobin Chd1tm1b(KOMP)Wtsi HET Early adult 8.22×10-05
embryonic lethality prior to tooth bud stage Chd1tm1b(KOMP)Wtsi HOM   E12.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 16.67% (2 of 12)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 16.67% (2 of 12)
Embryo N/A heterozygote 16.67% (2 of 12)
Eye N/A heterozygote 0.0% (0 of 12)
Footplate N/A heterozygote 0.0% (0 of 12)
Forebrain N/A heterozygote 16.67% (2 of 12)
Forelimb N/A heterozygote 16.67% (2 of 12)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 12)
Head N/A heterozygote 16.67% (2 of 12)
Heart N/A heterozygote 16.67% (2 of 12)
Hindbrain N/A heterozygote 16.67% (2 of 12)
Hindlimb N/A heterozygote 16.67% (2 of 12)
Liver N/A heterozygote 16.67% (2 of 12)
Lung N/A heterozygote 16.67% (2 of 12)
Mandibular process N/A heterozygote 16.67% (2 of 12)
Maxillary process N/A heterozygote 16.67% (2 of 12)
Midbrain N/A heterozygote 16.67% (2 of 12)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 16.67% (2 of 12)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 16.67% (2 of 12)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 16.67% (2 of 12)
Tail N/A heterozygote 16.67% (2 of 12)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)

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

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

Anatomy Background staining in controls(WT)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
trachea 1.72% (1 of 58)
urinary system 1.72% (1 of 58)

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 Skull Lateral Orientation

12 Images

Combined SHIRPA and Dysmorphology

Images

4 Images

Embryo LacZ

LacZ images wholemount

49 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Eye Morphology

Images Slit Lamp

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Gross Pathology and Tissue Collection

Images

8 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

X-ray

XRay Images Hind Leg and Hip

2 Images

Human diseases caused by Chd1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Chd1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
ORPHA:529965
Pilarowski-Bjornsson Syndrome
OMIM:617682

The table below shows human diseases predicted to be associated to Chd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Microphthalmia, Isolated, With Coloboma 5
Oral cleft, Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Microphthalmia, Anophthalmia OMIM:615524
Dextrocardia With Unusual Facies And Microphthalmia
Micrognathia, Anophthalmia, Microphthalmia, Cleft palate OMIM:221950
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:615631
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi... ORPHA:86841
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Fryns Microphthalmia Syndrome
Microphthalmia, Bilateral cleft lip and palate, Anophthalmia OMIM:600776
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia, Cleft upper lip, Cleft palate OMIM:613885
Dental Ankylosis
Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenesis ORPHA:1077
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Cleft Lip/Palate
Agenesis of lateral incisor, Abnormal number of permanent teeth, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia, Micrognathia, Malar flattening, Hypoplasia of the maxilla OMIM:241310
Otodental Syndrome
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, ... ORPHA:2791
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anisocytosis, Anemia, Splenomegaly, Decreased mean corpuscula... OMIM:616860
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Congenital Dyserythropoietic Anemia Type Iii
Oral cavity bleeding, Abnormal erythrocyte morphology, Anisocytosis, Gingival bleeding, Anemia, I... ORPHA:98870
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Hydrolethalus
Anophthalmia, Gingival cleft, Unilateral cleft lip, Microphthalmia, Cleft palate, Bifid uvula, Re... ORPHA:2189
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Cerebrooculonasal Syndrome
Long philtrum, Solitary median maxillary central incisor, U-Shaped upper lip vermilion, Anophthal... ORPHA:66625
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Mandibular prognathia, Microdontia, Widely spaced teeth, Hy... OMIM:601216
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia, Cleft palate OMIM:164180
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, He... OMIM:300908
Cockayne Syndrome Type 2
Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the primary teeth, Mandibular... ORPHA:90322
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Short philtrum, Everted lower lip vermilion, Thick vermilion border, Anophthalmia, Abnormal space... ORPHA:411986
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Lymphopenia, Recurrent sinusi... OMIM:618849
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Microphthalmia With Limb Anomalies
Deep philtrum, Anophthalmia, Microphthalmia, Cleft upper lip, Cleft palate, High palate, Retrogna... OMIM:206920
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Diamond-Blackfan Anemia 6
Macrocytic anemia, Persistence of hemoglobin F, Cleft upper lip, Cleft palate, Bifid uvula, Retro... OMIM:612561
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization OMIM:614832
Trisomy 13
Long philtrum, Anophthalmia, Abnormality of the dentition, Aplasia/Hypoplasia of the iris, Microp... ORPHA:3378
Oslam Syndrome
Abnormality of neutrophils, Carious teeth, Increased mean corpuscular volume ORPHA:2760
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Alveolar process hypopl... OMIM:273050
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Craniofacial-Deafness-Hand Syndrome
Malar flattening, Hypoplasia of the maxilla OMIM:122880
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Split-Hand/Foot Malformation 3
Narrow mouth, Microretrognathia, Cleft palate, High palate, Hypoplasia of the maxilla OMIM:246560
Maxillonasal Dysplasia
Open bite, Mandibular prognathia, Tooth agenesis, Cleft palate, Microdontia, Hypoplasia of the ma... ORPHA:1248
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short philtrum, Thin vermilion border, Premature loss of teeth, Hypoplasia of the maxilla OMIM:156510
Pycnodysostosis
Delayed eruption of primary teeth, Carious teeth, Narrow palate, Absent frontal sinuses, Persiste... OMIM:265800
Cockayne Syndrome Type 1
Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the primary teeth, Mandibular... ORPHA:90321
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency, Hypoplasia of the maxilla ORPHA:99772
Solitary Median Maxillary Central Incisor
Torus palatinus, Solitary median maxillary central incisor, Microphthalmia, Cleft upper lip, Anop... OMIM:147250
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla ORPHA:2776
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification OMIM:125420
Anophthalmia Plus Syndrome
Anophthalmia, Bilateral cleft lip and palate, Non-midline cleft lip, Cleft palate ORPHA:1104
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Hyperplasia of the maxilla, Decreased mean corpuscular hemoglobin ... ORPHA:231226
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Short philtrum, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Holoprosencephaly 9
Hypoplasia of the premaxilla, Short philtrum, Agenesis of incisor, Anophthalmia, Bilateral cleft ... OMIM:610829
Osteopetrosis With Renal Tubular Acidosis
Carious teeth, Abnormality of dental morphology, Mandibular prognathia, Thrombocytopenia, Anemia,... ORPHA:2785
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla OMIM:608432
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Smooth philtrum, Thin up... OMIM:129540
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Abnormal dental enamel morphology, Thin vermilion border, Long philtru... OMIM:257850
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate, Mandibular prognathia, Hypoplasia of the maxilla OMIM:300676
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Mandibular prognathia, Extramedullary hematopoiesis, Persistence of primary teeth,... OMIM:259710
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Enamel hypoplasia, Carious teeth, Anemia OMIM:226670
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin, High palate, Retrognathia, Micrognathia, Malar flattening ORPHA:98791
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla OMIM:264270
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental color, Abnorm... ORPHA:1028
Beta-Thalassemia
Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:848
Spondylospinal Thoracic Dysostosis
Micrognathia, Hypoplasia of the maxilla OMIM:601809
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Frontonasal Dysplasia 1
Hypoplastic frontal sinuses, Median cleft palate, Microphthalmia, Widely-spaced maxillary central... OMIM:136760
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Thin upper lip vermilion, Widely-spaced incisors, Smooth philtrum, Hypoplasia of the maxilla OMIM:618737
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Dental crowding, Everted lower lip vermilion, Trismus, Glossop... OMIM:616367
Melanocytic Nevus Syndrome, Congenital
Long philtrum, Prominence of the premaxilla, Open mouth, Deep philtrum, Everted lower lip vermilion OMIM:137550
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Oligodontia, Tooth malposition, Narrow mouth, Abnormality of canine, Abnormality of t... ORPHA:363417
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Cerebrooculonasal Syndrome
Narrow palate, Downturned corners of mouth, Anophthalmia, Solitary median maxillary central incis... OMIM:605627
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93950
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Oligodontia, Prominent frontal sinuses, Antegonial notching of mandible, Persi... OMIM:170390
Osteolysis Syndrome, Recessive
Hypoplasia of the maxilla OMIM:259610
Trisomy 1Q
Microretrognathia, Anophthalmia, Narrow mouth, Cleft palate ORPHA:261344
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Failure of eruption of permanent teeth, Tooth malposition, Anophthalmia, Microphthalmia, Cleft pa... ORPHA:2250
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93945
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Long philtrum, Aniridia, Mandibular prognathia, Anophthalmia, High, narrow palate, Hypoplasia of ... ORPHA:1101
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
Lujan-Fryns Syndrome
Short philtrum, Dental crowding, Abnormality of the dentition, High palate, Micrognathia, Hypopla... ORPHA:776
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Crowded maxillary incisors, Mandibular prognathia, Hypoplasia of the maxilla ORPHA:397973
20P12.3 Microdeletion Syndrome
Long philtrum, Malar flattening, Narrow mouth, Hypoplasia of the maxilla ORPHA:261295
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Decreased mean corpuscul... OMIM:618278
Matthew-Wood Syndrome
Abnormal spleen morphology, Microphthalmia, Anophthalmia ORPHA:2470
Multicentric Carpotarsal Osteolysis Syndrome
Micrognathia, Hypoplasia of the maxilla OMIM:166300
Microphthalmia With Brain And Digit Anomalies
High palate, Microphthalmia, Anophthalmia ORPHA:139471
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia, Cleft palate OMIM:610125
Cardioacrofacial Dysplasia 1
Short philtrum, Diastema, Conical tooth, Accessory oral frenulum, Hypoplasia of the maxilla OMIM:619142
Cohen Syndrome
Short philtrum, Open mouth, Neutropenia, Macrodontia of permanent maxillary central incisor, Leuk... OMIM:216550
Aarskog-Scott Syndrome
Delayed eruption of teeth, Long philtrum, Everted lower lip vermilion, Abnormality of the dentiti... ORPHA:915
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Long philtrum, Macroglossia, Hypochromic microcytic anemia, Dental crowding, Reduced alpha/beta s... OMIM:141750
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Carious teeth, Anemia of inadequate production, Anemia, Splenomegaly OMIM:612714
Teeth, Supernumerary
Mesiodens, Supernumerary tooth OMIM:187100
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Diastema, Smooth philtrum, Thin upper lip vermilion, Furrowed tongue, High... OMIM:300534
Walker-Warburg Syndrome
Cleft palate, Microphthalmia, Anophthalmia, Bifid uvula, Submucous cleft hard palate ORPHA:899
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Hemifacial Microsomia
Anophthalmia, Wide mouth, Microphthalmia, Cleft upper lip, Cleft palate, Micrognathia, Malar flat... OMIM:164210
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Supernumerary tooth, Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone ORPHA:3145
Microphthalmia, Syndromic 9
Micrognathia, Bilateral microphthalmos, Multilobulated spleen, Anophthalmia, Hypoplastic spleen OMIM:601186
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Malar flattening, Narrow mouth, Abnormal palate morphology ORPHA:2412
Stickler Syndrome Type 1
Long philtrum, Cleft palate, Hypoplasia of the maxilla ORPHA:90653
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Axenfeld-Rieger Syndrome
Everted lower lip vermilion, Aplasia/Hypoplasia of the iris, Hypodontia, Microdontia, Hypoplasia ... ORPHA:782
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Carious teeth, Thin vermilion border, Long philtrum, Hypoplasia of tee... ORPHA:50814
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Hypoplasia of the maxilla ORPHA:1529
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Thin vermilion border, Micrognathia, Hypoplasia of the maxilla OMIM:601812
Beta-Thalassemia Major
Hypochromic microcytic anemia, Hyperplasia of the maxilla, Decreased mean corpuscular hemoglobin ... ORPHA:231214
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
High palate, Hypoplasia of the maxilla ORPHA:85279
Jackson-Weiss Syndrome
Mandibular prognathia, Abnormal palate morphology, Hypoplasia of the maxilla ORPHA:1540
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Supernumerary tooth, Hypoplasia of the maxilla OMIM:614188
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Holoprosencephaly
Median cleft lip and palate, Deep philtrum, Abnormality of the spleen, Tooth agenesis, Solitary m... ORPHA:2162
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Vacterl With Hydrocephalus
Retrognathia, Micrognathia, Microphthalmia, Anophthalmia ORPHA:3412
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Hypoplasia of the maxilla OMIM:167730
Distal Limb Deficiencies-Micrognathia Syndrome
Narrow mouth, Microretrognathia, Microglossia, Cleft palate, High palate, Microdontia, Hypoplasia... ORPHA:1307
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Malar flattening, Hypoplasia of the maxilla OMIM:109120
Cohen Syndrome
Short philtrum, Open mouth, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Neutr... ORPHA:193
Meckel Syndrome
Accessory spleen, Aplasia/Hypoplasia of the tongue, Aplasia/Hypoplasia of the iris, Furrowed tong... ORPHA:564
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal palate morphology, Malar flattening, Hypoplasia of the maxilla ORPHA:93262
Dysostosis, Stanescu Type
Macroglossia, Carious teeth, Abnormal dental enamel morphology, Abnormal palate morphology, Abnor... ORPHA:1798
Craniometadiaphyseal Dysplasia
Carious teeth, Dental crowding, Mandibular prognathia, Natal tooth, Abnormally large globe, High ... OMIM:269300
Keipert Syndrome
Exaggerated cupid's bow, Tented upper lip vermilion, Hypoplasia of the maxilla ORPHA:2662
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Abnormality of dental morphology, Wid... ORPHA:861
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Long philtrum, Thick vermilion border, Hypoplasia of the maxilla ORPHA:228396
Rapp-Hodgkin Syndrome
Narrow mouth, Small, conical teeth, Hypodontia, Bifid uvula, Cleft upper lip, Cleft palate, Conic... OMIM:129400
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:206900
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia, Hypoplasia of the maxilla ORPHA:2399
Acrocephalopolysyndactyly Type Iii
Dental crowding, Mandibular prognathia, Malar flattening, Hypoplasia of the maxilla OMIM:101120
Pde4D Haploinsufficiency Syndrome
Long philtrum, Abnormal dental enamel morphology, Short philtrum, Mandibular prognathia, Thin upp... ORPHA:439822
Axenfeld-Rieger Syndrome, Type 2
Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Hypodontia, Microdontia, Hypo... OMIM:601499
Mandibulofacial Dysostosis-Microcephaly Syndrome
Cleft palate, Micrognathia, Malar flattening, Accessory oral frenulum, Hypoplasia of the maxilla ORPHA:79113
Nager Syndrome
Abnormal palate morphology, Wide mouth, Non-midline cleft lip, Hypoplasia of the zygomatic bone, ... ORPHA:245
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Talon cusp, Downturned corners of mouth, High, narrow palate, ... ORPHA:2409
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla OMIM:608154
14Q22Q23 Microdeletion Syndrome
Downturned corners of mouth, Optic nerve aplasia, Anophthalmia, Micrognathia, Malar flattening ORPHA:264200
Fibular Hemimelia
Thrombocytopenia, Anophthalmia ORPHA:93323
Mohr Syndrome
Accessory oral frenulum, Agenesis of central incisor, Tongue nodules, Bifid tongue, Lobulated ton... OMIM:252100
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Macroglossia, Thick lower lip vermilion, Protruding tongue, U-Shap... OMIM:301040
Coffin-Lowry Syndrome
Delayed eruption of teeth, Narrow palate, Open mouth, Abnormality of dental morphology, Craniofac... ORPHA:192
Hereditary Methemoglobinemia
Methemoglobinemia, Lip discoloration ORPHA:621
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Hypoplasia of the maxilla OMIM:218000
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Erythroid hyperplasia, I... ORPHA:231222
Atelosteogenesis, Type Iii
Cleft palate, Micrognathia, Malar flattening, Hypoplasia of the maxilla OMIM:108721
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, Open mouth, Dental crowding, Deep philtrum, Thin upper lip vermilion, High palate... OMIM:309520
Acrodysostosis
Open bite, Delayed eruption of teeth, Open mouth, Mandibular prognathia, Hypoplasia of the maxilla ORPHA:950
Marshall Syndrome
Long philtrum, Thick lower lip vermilion, Hypoplastic frontal sinuses, Thick upper lip vermilion,... ORPHA:560
Congenital Erythropoietic Porphyria
Poikilocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Thrombocytopenia, Aniso... ORPHA:79277
Martsolf Syndrome 1
Short philtrum, Tooth malposition, Microphthalmia, High palate, Micrognathia, Hypoplasia of the m... OMIM:212720
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Thin vermilion border, Long philtrum, Microphthalmia, Cleft upper l... ORPHA:1106
Subaortic Stenosis--Short Stature Syndrome
Narrow mouth, Diastema, Short upper lip, Microphthalmia, Malar flattening, Hypoplasia of the maxilla OMIM:271960
Angelman Syndrome
Macroglossia, Drooling, Mandibular prognathia, Wide mouth, Protruding tongue, Widely spaced teeth... OMIM:105830
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Oligodontia, Fused teeth, Long philtrum, Radiculomegaly, Persistence o... OMIM:300166
Distal Xq28 Microduplication Syndrome
Open mouth, Dental crowding, Short lingual frenulum, High palate, Thick lower lip vermilion, Hypo... ORPHA:293939
Nablus Mask-Like Facial Syndrome
Long philtrum, Narrow mouth, Smooth philtrum, Abnormality of the dentition, Thin upper lip vermil... OMIM:608156
Microgastria-Limb Reduction Defects Association
Splenogonadal fusion, Asplenia, Anophthalmia OMIM:156810
Crouzon Disease
Narrow palate, Hypoplasia of the maxilla ORPHA:207
Kagami-Ogata Syndrome
Long philtrum, Splenomegaly, Retrognathia, Micrognathia, Hypoplasia of the maxilla OMIM:608149
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Macroglossia, Everted lower lip vermilion, Abnormality of the dentition, Tented upper lip vermili... ORPHA:847
Microphthalmia With Linear Skin Defects Syndrome
Mandibular aplasia, Abnormal dental enamel morphology, Microphthalmia, Anophthalmia, Retrognathia... ORPHA:2556
Frontorhiny
Hypoplastic frontal sinuses, Bifid tongue, Microphthalmia, Cleft palate, Hypoplasia of the maxilla ORPHA:391474
Microcephaly-Capillary Malformation Syndrome
Cleft palate, Hypoplasia of the maxilla OMIM:614261
Meier-Gorlin Syndrome 4
Micrognathia, Narrow mouth, Thick lower lip vermilion, Hypoplasia of the maxilla OMIM:613804
Dyskeratosis Congenita, Autosomal Dominant 1
Oral leukoplakia, Carious teeth, Lymphopenia, Thrombocytopenia, Aplastic anemia, Anemia, Prematur... OMIM:127550
8Q22.1 Microdeletion Syndrome
Long philtrum, Abnormality of the dentition, Submucous cleft hard palate, Hypoplasia of the maxilla ORPHA:178303
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypodontia, Selective tooth agenesis, Cleft upper lip, Cleft palate, Conical tooth, Widely spaced... OMIM:106260
Acrofacial Dysostosis, Cincinnati Type
Cleft palate, Retrognathia, Micrognathia, Hypoplasia of the maxilla OMIM:616462
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Long philtrum, Thick vermilion border, Microphthalmia, Anophthalmia, Leukemia ORPHA:2526
Van Maldergem Syndrome 2
Downturned corners of mouth, Tented upper lip vermilion, Irregular dentition, High palate, Dental... OMIM:615546
Focal Dermal Hypoplasia
Enamel hypoplasia, Delayed eruption of teeth, Oligodontia, Aniridia, Anophthalmia, Hypodontia, Mi... OMIM:305600
Carpenter Syndrome 1
Agenesis of permanent teeth, Polysplenia, Persistence of primary teeth, High palate, Micrognathia... OMIM:201000
Van Maldergem Syndrome 1
Downturned corners of mouth, Tented upper lip vermilion, Irregular dentition, High palate, Dental... OMIM:601390
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Charge Syndrome
Delayed eruption of teeth, Abnormal soft palate morphology, Narrow mouth, Anophthalmia, Microphth... ORPHA:138
Dyskeratosis Congenita
Oral leukoplakia, Carious teeth, Taurodontia, Abnormality of neutrophils, Periodontitis, Abnormal... ORPHA:1775
Fraser Syndrome 1
Difficulty in tongue movements, Dental crowding, Anophthalmia, Bilateral microphthalmos, Cleft up... OMIM:219000
Marshall-Smith Syndrome
Prominence of the premaxilla, Short philtrum, Irregular dentition, Glossoptosis, Gingival overgro... OMIM:602535
Hypohidrotic Ectodermal Dysplasia
Abnormality of dental morphology, Abnormality of the dentition, Thick vermilion border, Tooth age... ORPHA:238468
Cowden Syndrome 1
Narrow mouth, Lymphopenia, Furrowed tongue, High palate, Micrognathia, Hypoplasia of the maxilla OMIM:158350
Fraser Syndrome
Dental crowding, Oral cleft, Bifid tongue, Microphthalmia, Cleft upper lip, Anophthalmia, High pa... ORPHA:2052
Pfeiffer Syndrome
Dental crowding, High palate, Mandibular prognathia, Hypoplasia of the maxilla OMIM:101600
Cowden Syndrome 5
Narrow mouth, Furrowed tongue, High palate, Micrognathia, Hypoplasia of the maxilla OMIM:615108
Crouzon Syndrome
Dental crowding, Mandibular prognathia, Hypoplasia of the maxilla OMIM:123500
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Micrognathia, Mandibular condyle hypoplasia ORPHA:2975
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Long philtrum, Thin vermilion border, Smooth philtrum, High palate, Hypoplasia of the maxilla ORPHA:481152
Geroderma Osteodysplasticum
Mandibular prognathia, Malar flattening, Periodontitis, Hypoplasia of the maxilla OMIM:231070
Elsahy-Waters Syndrome
Delayed eruption of teeth, Long philtrum, Broad philtrum, Mandibular prognathia, High palate, Thi... OMIM:211380
Aarskog-Scott Syndrome
Curved linear dimple below the lower lip, Hypodontia, Cleft upper lip, Cleft palate, Broad philtr... OMIM:305400
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Microphthalmia, Anophthalmia ORPHA:2538
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,... OMIM:260400
Gorlin-Chaudhry-Moss Syndrome
Oligodontia, Abnormality of the dentition, Hypoplasia of the maxilla ORPHA:2095
Lead Poisoning
Delayed eruption of teeth, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Anemia ORPHA:330015
Myhre Syndrome
Thin vermilion border, Narrow mouth, Craniofacial hyperostosis, Mandibular prognathia, Submucous ... ORPHA:2588
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Anodontia, Hypoplasia of the maxilla OMIM:211370
Cowden Syndrome 6
Narrow mouth, Furrowed tongue, High palate, Micrognathia, Hypoplasia of the maxilla OMIM:615109
Branchioskeletogenital Syndrome
Thin vermilion border, Carious teeth, Short philtrum, Downturned corners of mouth, Mandibular pro... ORPHA:1299
Acrodysostosis 1 With Or Without Hormone Resistance
Delayed eruption of teeth, Mandibular prognathia, Hypodontia, Dental malocclusion, Hypoplasia of ... OMIM:101800
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Taurodontia, Everted lower lip vermilion, Thick vermilion border, Hypodontia, Abnormal oral mucos... OMIM:305100
Apert Syndrome
Delayed eruption of teeth, Narrow palate, Mandibular prognathia, Cleft palate, Bifid uvula, Hypop... ORPHA:87
Joubert Syndrome 21
Anophthalmia OMIM:615636
Van Den Ende-Gupta Syndrome
Dental crowding, Everted lower lip vermilion, Cleft palate, High palate, High, narrow palate, Mal... OMIM:600920
Weill-Marchesani Syndrome 1
Tooth malposition, Narrow palate, Abnormality of dental morphology, Microspherophakia, Hypoplasia... OMIM:277600
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Bilateral microphthalmos, Persistence of primary teeth, Anemia, Calvarial osteoscl... ORPHA:93325
Charge Syndrome
Lymphopenia, Cleft palate, Microphthalmia, Cleft upper lip, Anophthalmia, Micrognathia, Malar fla... OMIM:214800
Microphthalmia, Syndromic 6
Anophthalmia, Microglossia, Microphthalmia, Cleft palate, Bifid uvula, High palate, Retrognathia,... OMIM:607932
Meier-Gorlin Syndrome 5
Long philtrum, Micrognathia, Hypoplasia of the maxilla OMIM:613805
Branchiooculofacial Syndrome
Cleft of chin, Anophthalmia, Abnormality of the dentition, Microphthalmia, Cleft upper lip, Cleft... OMIM:113620
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:3044
Brachytelephalangic Chondrodysplasia Punctata
Hypoplasia of the anterior nasal spine, Optic disc hypoplasia, Optic nerve hypoplasia, Hypoplasia... ORPHA:79345
Greenberg Dysplasia
Tooth malposition, Extramedullary hematopoiesis, Hepatosplenomegaly, Micrognathia, Malar flatteni... OMIM:215140
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit... ORPHA:1031
Goldberg-Shprintzen Syndrome
Short philtrum, Everted lower lip vermilion, Thick vermilion border, Hypoplasia of the maxilla OMIM:609460
Axenfeld-Rieger Syndrome, Type 1
Aniridia, Short philtrum, Rieger anomaly, Hypodontia, Thin upper lip vermilion, Hypoplasia of the... OMIM:180500
Ear-Patella-Short Stature Syndrome
Mandibular aplasia, Narrow mouth, High, narrow palate, Thick vermilion border, Submucous cleft ha... ORPHA:2554
Cerebrofacioarticular Syndrome
Irregular dentition, Micrognathia, Narrow mouth, Hypoplasia of the maxilla ORPHA:314679
3Mc Syndrome 2
Prominence of the premaxilla, Downturned corners of mouth, Cleft upper lip, Cleft palate, Broad p... OMIM:265050
Meier-Gorlin Syndrome 3
Narrow mouth, Thick lower lip vermilion, Microretrognathia, Micrognathia, Hypoplasia of the maxilla OMIM:613803
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Aplasia/Hypoplasia of the frontal sinuses, Microphthalmia, Cleft palate, Hypoplasia of the fronta... ORPHA:306542
Shprintzen-Goldberg Craniosynostosis Syndrome
Narrow palate, High palate, Dental malocclusion, Micrognathia, Hypoplasia of the maxilla OMIM:182212
Saethre-Chotzen Syndrome
Open bite, Cleft palate, Narrow palate, Hypoplasia of the maxilla ORPHA:794
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Micrognathia, Gingival overgrowth, Cleft palate, Cleft upper lip, High palate, Microdontia of pri... OMIM:213980
Aicardi Syndrome
Short philtrum, Prominence of the premaxilla, Microphthalmia, Cleft upper lip, Cleft palate ORPHA:50
Distal Monosomy 19P13.3
Cleft palate, Short philtrum, Hypoplasia of the maxilla ORPHA:96129
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Micrognathia, Gingival overgrowth, Hypoplasia of the maxilla OMIM:259600
Aarskog Syndrome, Autosomal Dominant
Long philtrum, Curved linear dimple below the lower lip, Oral cleft, Cleft upper lip, Cleft palat... OMIM:100050
Weill-Marchesani Syndrome 2
Tooth malposition, Narrow palate, Abnormality of dental morphology, Microspherophakia, High palat... OMIM:608328
Stickler Syndrome
Open bite, Long philtrum, Abnormal dental enamel morphology, Macroglossia, Tooth agenesis, Glosso... ORPHA:828
Myhre Syndrome
Short philtrum, Narrow mouth, Mandibular prognathia, Thin upper lip vermilion, Cleft lip, Microph... OMIM:139210
Meier-Gorlin Syndrome 1
Narrow mouth, Thick lower lip vermilion, Cleft palate, High palate, Microdontia, Micrognathia, Hy... OMIM:224690
Microphthalmia, Syndromic 1
Agenesis of maxillary lateral incisor, Tooth malposition, Dental crowding, Oral cleft, Microphtha... OMIM:309800
Shprintzen-Goldberg Syndrome
Retrognathia, Micrognathia, High, narrow palate, Hypoplasia of the maxilla ORPHA:2462
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Prolonged G2 phase of cell cycle OMIM:227645
Aicardi Syndrome
Prominence of the premaxilla, Microphthalmia, Cleft upper lip, Cleft palate OMIM:304050
Holoprosencephaly 7
Hypoplasia of the premaxilla, Median cleft lip and palate, Bilateral microphthalmos, Bilateral cl... OMIM:610828
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Carious teeth, Selective tooth agenesis, Xerostomia, Absence of Stensen duct, Cleft palate, Cleft... OMIM:604292
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle OMIM:600901
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Prolonged G2 phase of cell cycle OMIM:227646
Bartsocas-Papas Syndrome 1
Oral synechia, Cleft upper lip, Cleft palate, Microphthalmia, Micrognathia, Hypoplasia of the max... OMIM:263650
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle OMIM:227650
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Narrow mouth, Oral cleft, Microphthalmia, Cleft palate, Micrognathia ORPHA:2166
Zttk Syndrome
Thin vermilion border, Short philtrum, Narrow mouth, Downturned corners of mouth, Abnormality of ... OMIM:617140
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Oligodontia, Selective tooth agenesis, Xerostomia, Absence of Stensen duct, Cleft ... OMIM:129900
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Long philtrum, Short philtrum, Macroglossia, Narrow mouth, Drooling, Mandibular prognathia, Deep ... ORPHA:96334
Ablepharon Macrostomia Syndrome
Thin vermilion border, Wide mouth, Hypoplasia of the zygomatic bone, Microdontia, Hypoplasia of t... ORPHA:920
Neurofaciodigitorenal Syndrome
Hypoplasia of the premaxilla, Mandibular prognathia, Abnormal oral mucosa morphology, Abnormality... ORPHA:2673
Rubinstein-Taybi Syndrome 1
Enamel hypoplasia, Talon cusp, Narrow palate, Narrow mouth, Dental crowding, Dental malocclusion,... OMIM:180849
Saethre-Chotzen Syndrome
Buphthalmos, Narrow palate, Cleft of chin, Cleft palate, Malar flattening, Hypoplasia of the maxilla OMIM:101400
Cutis Laxa, Autosomal Recessive, Type Ib
High palate, Prominence of the premaxilla, Micrognathia OMIM:614437
Floating-Harbor Syndrome
Carious teeth, Oligodontia, Short philtrum, Wide mouth, Persistence of primary teeth, Microdontia... ORPHA:2044
Peters-Plus Syndrome
Long philtrum, Thin vermilion border, Agenesis of maxillary lateral incisor, Thin upper lip vermi... OMIM:261540
Singleton-Merten Syndrome 1
Carious teeth, Hypoplasia of the tooth germ, Smooth philtrum, Eruption failure, Hypoplasia of the... OMIM:182250
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Short philtrum, Thin vermilion border, Downturned corners of mouth, Submucous cleft soft palate, ... ORPHA:500150
Primrose Syndrome
Narrow mouth, Downturned corners of mouth, Thick lower lip vermilion, Increased size of the mandi... OMIM:259050
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla OMIM:300106
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
ORPHA:529965
Pilarowski-Bjornsson Syndrome
OMIM:617682

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 Chd1

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 Chd1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Chromatin Regulator CHD1 Remodels the Immunosuppressive Tumor Microenvironment in PTEN-Deficient Prostate Cancer. Cancer discovery (May 2020) Chd1tm1c(KOMP)Wtsi Chd1tm1a(KOMP)Wtsi 32385075
Organ-specific regulation of CHD1 by acute PTEN and p53 loss in mice. Biochemical and biophysical research communications (February 2020) Chd1tm1a(KOMP)Wtsi 32115152
Emergence of hematopoietic stem and progenitor cells involves a Chd1-dependent increase in total nascent transcription. Proceedings of the National Academy of Sciences of the United States of America (March 2015) Chd1tm1b(KOMP)Rsan PMC4394284
Chd1 is essential for the high transcriptional output and rapid growth of the mouse epiblast. Development (Cambridge, England) (December 2014) Chd1tm1c(KOMP)Rsan Chd1tm1b(KOMP)Rsan PMC4299150

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MGI Allele Allele Type Produced
Chd1em2(IMPC)Wtsi Point Mutation Mice
Chd1em1(IMPC)Wtsi Point Mutation Mice
Chd1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue
Chd1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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