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Gene: Chd1 MGI:88393

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Gene Summary

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

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
embryonic lethality prior to organogenesis Chd1tm1b(KOMP)Wtsi HOM   E9.5 0.00
abnormal tooth morphology Chd1tm1b(KOMP)Wtsi HET Early adult 1.58×10-05
abnormal embryo size Chd1tm1b(KOMP)Wtsi HET E9.5 0.00
preweaning lethality, complete penetrance Chd1tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased grip strength Chd1tm1b(KOMP)Wtsi HET Early adult 2.71×10-06
abnormal maxilla morphology Chd1tm1b(KOMP)Wtsi HET Early adult 1.58×10-05
abnormal eye morphology Chd1tm1b(KOMP)Wtsi HET E12.5 0.00
anophthalmia Chd1tm1b(KOMP)Wtsi HET Early adult 0.00
decreased mean corpuscular hemoglobin concentration Chd1tm1b(KOMP)Wtsi HET Early adult 2.08×10-06
decreased red blood cell distribution width Chd1tm1b(KOMP)Wtsi HET   Early adult 1.07×10-05
embryonic lethality prior to tooth bud stage Chd1tm1b(KOMP)Wtsi HOM   E12.5 0.00

Download data as:  TSV  XLS

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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 91.67% (11 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 Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

Images Slit Lamp

3 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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Embryo LacZ

LacZ images wholemount

49 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Combined SHIRPA and Dysmorphology

Images

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Hind Leg and Hip

2 Images

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Histopathology

Images

1 Images

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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 D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Microphthalmia/Coloboma 5
Orofacial cleft, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Anophthalmia, Microphthalmia, Cleft palate OMIM:615524
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Anencephaly 2
Median cleft upper lip, Cleft maxillary alveolar ridge, Median cleft palate, Anophthalmia OMIM:619452
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Fryns Microphthalmia Syndrome
Bilateral cleft lip, Bilateral cleft palate, Anophthalmia, Microphthalmia OMIM:600776
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Otodental Syndrome
Abnormality of canine, Carious teeth, Periodontitis, Abnormal dental pulp morphology, Abnormal mo... ORPHA:2791
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:300946
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Retrognathia, Micrognathia, Anophthalmia, Subm... ORPHA:2189
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Everted lower lip vermilion, Abnormal spaced incisors, Thick vermilion border, Shor... ORPHA:411986
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization, Iron deficiency anemia, Thrombocytopenia, Neutropenia, Increased mean ... ORPHA:494444
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Cerebrooculonasal Syndrome
Long philtrum, Widely spaced teeth, Anophthalmia, Microdontia, Solitary median maxillary central ... ORPHA:66625
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... OMIM:601216
Oculocerebrocutaneous Syndrome
Anophthalmia, Cleft palate, Microphthalmia OMIM:164180
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... OMIM:616860
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Alpha-Thalassemia
Extramedullary hematopoiesis, Hyperplasia of the maxilla, Microcytic anemia, Hemoglobin Barts, He... ORPHA:846
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Cockayne Syndrome Type 2
Widely spaced primary teeth, Hypoplasia of the primary teeth, Anophthalmia, Delayed eruption of p... ORPHA:90322
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Meckel Syndrome, Type 8
Cleft upper lip, Anophthalmia, Cleft palate, Microphthalmia OMIM:613885
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytos... ORPHA:98870
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Micrognathia, Wide mouth, Retrognathia, Anisocytosis OMIM:604273
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla ORPHA:2776
Trisomy 13
High, narrow palate, Abnormality of the dentition, Long philtrum, Aplasia/Hypoplasia of the iris,... ORPHA:3378
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth OMIM:619787
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, High palate, Cleft palate OMIM:246560
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Maxillonasal Dysplasia
Hypoplasia of the maxilla, Tooth agenesis, Open bite, Microdontia, Mandibular prognathia, Cleft p... ORPHA:1248
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Thin vermilion border, Hypoplasia of the maxilla, Short philtrum, Premature loss of teeth OMIM:156510
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis,... OMIM:618849
Anophthalmia Plus Syndrome
Cleft palate, Anophthalmia, Non-midline cleft of the upper lip, Bilateral cleft palate ORPHA:1104
Solitary Median Maxillary Central Incisor
Cleft upper lip, Prominent median palatal raphe, Anophthalmia, Solitary median maxillary central ... OMIM:147250
Diamond-Blackfan Anemia 6
Bifid uvula, Increased mean corpuscular volume, Retrognathia, Cleft upper lip, Persistence of hem... OMIM:612561
Cockayne Syndrome Type 1
Abnormality of the dentition, Widely spaced primary teeth, Hypoplasia of the primary teeth, Anoph... ORPHA:90321
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Oslam Syndrome
Abnormality of neutrophils, Carious teeth, Increased mean corpuscular volume ORPHA:2760
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Microphthalmia With Limb Anomalies
Retrognathia, Cleft upper lip, Anophthalmia, Deep philtrum, Microphthalmia, High palate, Cleft pa... OMIM:206920
Epidermolysis Bullosa, Junctional 1A, Intermediate
Hypodontia, Carious teeth, Enamel hypoplasia, Oral mucosal blisters OMIM:226650
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Dominant Beta-Thalassemia
Abnormality of the dentition, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of ... ORPHA:231226
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla OMIM:264270
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... OMIM:258900
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Melanocytic Nevus Syndrome, Congenital
Long philtrum, Open mouth, Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion OMIM:137550
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... ORPHA:71275
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar flattening OMIM:241310
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever... OMIM:616367
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Thin upper lip vermilion, Smooth philtrum, Hypoplasia of the maxilla, Widely-spaced incisors OMIM:618737
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93945
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Abnormality of canine, Abnormally large globe, Hypoplasia of the maxilla, Abno... ORPHA:363417
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... OMIM:301310
Malan Syndrome
Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption... OMIM:614753
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Tooth malposition, Bifid uvula, Failure of eruption of permanent teeth, Anophthalmia, Submucous c... ORPHA:2250
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93950
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Hypoplasia of the maxilla, Long philtrum, Aniridia, Anophthalmia, Mandibular... ORPHA:1101
Frontonasal Dysplasia 1
Hypoplasia of the maxilla, Median cleft palate, Median cleft upper lip, Microphthalmia, Widely-sp... OMIM:136760
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Trisomy 1Q
Microretrognathia, Narrow mouth, Anophthalmia, Cleft palate ORPHA:261344
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Retrognathia, Microcytic anemia, Micrognathia, Malar flattening, High palate ORPHA:98791
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Cleft palate, Microphthalmia OMIM:610125
Microphthalmia With Brain And Digit Anomalies
High palate, Anophthalmia, Microphthalmia ORPHA:139471
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors ORPHA:397973
Cardioacrofacial Dysplasia 1
Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum, Accessory oral frenulum OMIM:619142
Lujan-Fryns Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Micrognathia, Short phi... ORPHA:776
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Narrow mouth, Malar flattening, Long philtrum ORPHA:261295
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Cerebrooculonasal Syndrome
Narrow palate, Downturned corners of mouth, Long philtrum, Anophthalmia, Malar flattening, Solita... OMIM:605627
Holoprosencephaly 9
Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Dental malocclusion, Downturned corners ... OMIM:610829
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, High palate, Mandibular prognathia OMIM:300676
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hypoplasia of the maxilla, Micrognathia, Microphthalmia OMIM:301108
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Malar flattening, Mandibular prognathia, O... OMIM:620157
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Supernumerary tooth ORPHA:3145
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:848
Matthew-Wood Syndrome
Abnormal spleen morphology, Anophthalmia, Microphthalmia ORPHA:2470
Dislocation Of The Hip-Dysmorphism Syndrome
Narrow mouth, Malar flattening, Abnormal palate morphology, Prominence of the premaxilla ORPHA:2412
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Retrognathia, Persistence of hemoglobin F, Micrognathia, Thin upper lip vermilion, Everted lower ... OMIM:617101
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the iris, Microdontia, Hypodontia, Everted lower... ORPHA:782
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla OMIM:618302
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b... ORPHA:1946
Walker-Warburg Syndrome
Bifid uvula, Anophthalmia, Submucous cleft hard palate, Microphthalmia, Cleft palate ORPHA:899
Cleft Velum
Hypoplasia of the maxilla, Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Mandibular osteomyelitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancyt... OMIM:259710
Recon Progeroid Syndrome
Dental crowding, Prominence of the premaxilla, Smooth philtrum, Thrombocytopenia, Anemia, Delayed... OMIM:620370
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Narrow mouth ORPHA:1529
Aarskog-Scott Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of teeth, Long philtrum... ORPHA:915
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cleft palate, Long philtrum ORPHA:90653
Jalili Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta ORPHA:1873
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, M... ORPHA:50814
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Odontomicronychial Dysplasia
Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los... ORPHA:1811
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Micrognathia, Anophthalmia, Hypoplastic spleen OMIM:601186
Keipert Syndrome
Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow ORPHA:2662
Pycnodysostosis
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Hepa... ORPHA:763
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Abnormal palate morphology ORPHA:1540
Vacterl With Hydrocephalus
Retrognathia, Micrognathia, Anophthalmia, Microphthalmia ORPHA:3412
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, High palate ORPHA:85279
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Microphthalmia OMIM:167730
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia OMIM:166300
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of primary teeth, Dental crowding, Persistence of hemoglobin F OMIM:619769
Andersen Cardiodysrhythmic Periodic Paralysis
Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognathia, Malar fla... OMIM:170390
Hereditary Methemoglobinemia
Methemoglobinemia, Lip discoloration ORPHA:621
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat... ORPHA:1798
Holoprosencephaly
Hypoplasia of the zygomatic bone, Tooth agenesis, Abnormality of the spleen, Median cleft palate,... ORPHA:2162
Rapp-Hodgkin Syndrome
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Velopharyngeal insufficienc... OMIM:129400
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Downturned corners of mouth, Persistence of h... OMIM:617052
Cohen Syndrome
High, narrow palate, Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the z... ORPHA:193
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Malar flattening, Abnormal palate morphology ORPHA:93262
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Thick vermilion border ORPHA:228396
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Rieger anomaly, Malar flattening OMIM:109120
Proboscis Lateralis
Abnormality of the maxillary sinus, Abnormal facial skeleton morphology, Long philtrum, Anophthal... ORPHA:141099
Nager Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia, Abnormal palate morpho... ORPHA:245
Axenfeld-Rieger Syndrome, Type 2
Hypoplasia of the maxilla, Microdontia, Hypodontia, Everted lower lip vermilion, Short philtrum, ... OMIM:601499
Craniometadiaphyseal Dysplasia
Carious teeth, Abnormally large globe, Natal tooth, Absent paranasal sinuses, Dental crowding, Ma... OMIM:269300
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microglossia, Microretrognathia, Narrow mouth, Microdontia, High palat... ORPHA:1307
Beta-Thalassemia Major
Abnormality of the dentition, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of ... ORPHA:231214
Meckel Syndrome
Accessory spleen, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Micrognathia, Aplasia/Hypopl... ORPHA:564
Treacher-Collins Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Retrog... ORPHA:861
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Cleft palate, Accessory oral frenulum ORPHA:79113
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Long philtrum, Cleft upper lip, Macrodon... ORPHA:1106
Lowry-Maclean Syndrome
High, narrow palate, Hypoplasia of the maxilla, Downturned corners of mouth, Retrognathia, Microg... ORPHA:2409
14Q22Q23 Microdeletion Syndrome
Downturned corners of mouth, Optic nerve aplasia, Micrognathia, Malar flattening, Anophthalmia ORPHA:264200
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla OMIM:608154
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Cleft palate OMIM:108721
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Lobulated tongue, Micrognathia, Malar flattening, Agenesis of central ... OMIM:252100
Microphthalmia, Syndromic 2
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Persistence of primar... OMIM:300166
Pde4D Haploinsufficiency Syndrome
Hypoplasia of the maxilla, Long philtrum, Abnormal dental enamel morphology, Micrognathia, Malar ... ORPHA:439822
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Long philtrum, Microphthalmia OMIM:615877
Marshall Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Long p... ORPHA:560
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Hypoplasia of the maxilla, Narrow palate, Delayed eruption of teeth, T... ORPHA:192
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... OMIM:618278
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Distal Xq28 Microduplication Syndrome
Hypoplasia of the maxilla, Dental crowding, Thick lower lip vermilion, Open mouth, Short lingual ... ORPHA:293939
Fibular Hemimelia
Anophthalmia, Thrombocytopenia ORPHA:93323
Andersen-Tawil Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Persistence of primary ... ORPHA:37553
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, HbH hemoglobin, Diastema, Thick lower lip vermilion, Protruding tongue, Ma... OMIM:301040
Crouzon Syndrome
Narrow palate, Hypoplasia of the maxilla ORPHA:207
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, High palate OMIM:218000
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hypoplasia of the maxilla, Dental crowding, Micrognathia, Open mouth, Thin upper lip vermilion, S... OMIM:309520
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Hypoplasia of the maxilla, Diastema, Furrowed tongue, Micrognathia, Thin upper lip vermilion, Smo... OMIM:300534
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Splenomegaly OMIM:608149
Microphthalmia With Linear Skin Defects Syndrome
Retrognathia, Abnormal dental enamel morphology, Micrognathia, Anophthalmia, Mandibular aplasia, ... ORPHA:2556
Angelman Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Protruding tongue, Macrogl... OMIM:105830
Joubert Syndrome 21
Chronic sinusitis, Splenomegaly, Anophthalmia OMIM:615636
Congenital Erythropoietic Porphyria
Erythrodontia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Th... ORPHA:79277
Frontorhiny
Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Microphthalmia, Bifid tongue, Cleft palate ORPHA:391474
8Q22.1 Microdeletion Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Long philtrum, Submucous cleft hard palate ORPHA:178303
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Bilateral microphthalmos, Microphthalmia ORPHA:2399
Martsolf Syndrome 1
Tooth malposition, Hypoplasia of the maxilla, Long philtrum, Micrognathia, Short philtrum, Microp... OMIM:212720
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla, Long philtrum, Smooth philtrum, Thin vermilion border, High palate ORPHA:481152
Carpenter Syndrome 1
Hypoplasia of the maxilla, Polysplenia, Agenesis of permanent teeth, Persistence of primary teeth... OMIM:201000
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Long philtrum, Microphthalmia, Anophthalmia, Thick vermilion border, Leukemia ORPHA:2526
Meier-Gorlin Syndrome 4
Hypoplasia of the maxilla, Micrognathia, Narrow mouth, Thick lower lip vermilion OMIM:613804
Microphthalmia, Syndromic 3
Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:206900
Crouzon Syndrome
Hypoplasia of the maxilla, High palate, Mandibular prognathia, Dental crowding OMIM:123500
Acrodysostosis
Hypoplasia of the maxilla, Delayed eruption of teeth, Open bite, Open mouth, Mandibular prognathia ORPHA:950
Dyskeratosis Congenita
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Oral leuko... ORPHA:1775
Van Maldergem Syndrome 1
Hypoplasia of the maxilla, Dental malocclusion, Downturned corners of mouth, Micrognathia, Tented... OMIM:601390
Barber-Say Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Velopharyngeal insufficien... OMIM:209885
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Cleft palate OMIM:614261
Diamond-Blackfan Anemia
Cleft lip, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of... ORPHA:124
Pfeiffer Syndrome
Hypoplasia of the maxilla, High palate, Mandibular prognathia, Dental crowding OMIM:101600
Focal Dermal Hypoplasia
Dental malocclusion, Delayed eruption of teeth, Cleft upper lip, Aniridia, Anophthalmia, Oligodon... OMIM:305600
Elsahy-Waters Syndrome
Bifid uvula, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Long phil... OMIM:211380
Aarskog-Scott Syndrome
Hypoplasia of the maxilla, Cleft upper lip, Hypodontia, Broad philtrum, Curved linear dimple belo... OMIM:305400
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Anophthalmia, Microphthalmia ORPHA:2538
Cowden Syndrome 5
Hypoplasia of the maxilla, Furrowed tongue, Micrognathia, Narrow mouth, High palate OMIM:615108
Charge Syndrome
Hypoplasia of the zygomatic bone, Cleft upper lip, Delayed eruption of teeth, Narrow mouth, Anoph... ORPHA:138
Fraser Syndrome 1
Dental crowding, Dental malocclusion, Bilateral microphthalmos, Cleft upper lip, Anophthalmia, Cl... OMIM:219000
Hypohidrotic Ectodermal Dysplasia
Abnormality of the dentition, Hypoplasia of the maxilla, Tooth agenesis, Abnormal dental morpholo... ORPHA:238468
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathia, Micrognathia, Narrow philtrum... OMIM:601812
Cowden Syndrome 1
Hypoplasia of the maxilla, Lymphopenia, Furrowed tongue, Micrognathia, Narrow mouth, High palate OMIM:158350
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla, Hypoplasia of the iris, Aniridia, Rieger anomaly, Oligodontia, Thin up... OMIM:180500
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the dentition, Thick lower lip vermilion, Tented upper lip vermilion, Abnormal hem... ORPHA:847
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia ORPHA:2095
Geroderma Osteodysplasticum
Abnormality of the dentition, Hypoplasia of the maxilla, Periodontitis, Malar flattening, Mandibu... OMIM:231070
Cowden Syndrome 6
Hypoplasia of the maxilla, Furrowed tongue, Micrognathia, Narrow mouth, High palate OMIM:615109
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Long philtrum, Micrognathia, Submucous cleft hard palate, Thick vermil... OMIM:613805
Van Maldergem Syndrome 2
Hypoplasia of the maxilla, Dental malocclusion, Downturned corners of mouth, Micrognathia, Tented... OMIM:615546
Myhre Syndrome
Craniofacial hyperostosis, Hypoplasia of the maxilla, Bifid uvula, Gingival cleft, Unilateral cle... ORPHA:2588
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla OMIM:614886
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla, Cleft lip, Conical tooth, Selective tooth agenesis, Cleft upper lip, W... OMIM:106260
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Retrognathia, Cleft upper lip, Persistence of hemoglobin F, El... OMIM:105650
Lead Poisoning
Anemia, Delayed eruption of teeth, Imbalanced hemoglobin synthesis, Abnormal T cell morphology ORPHA:330015
Fraser Syndrome
Dental malocclusion, Dental crowding, Cleft upper lip, Anophthalmia, Orofacial cleft, Microphthal... ORPHA:2052
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Branchioskeletogenital Syndrome
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Abnormality of the dentition, Downturned c... ORPHA:1299
Apert Syndrome
Bifid uvula, Hypoplasia of the maxilla, Delayed eruption of teeth, Narrow palate, Mandibular prog... ORPHA:87
Microphthalmia, Syndromic 6
Bifid uvula, Microglossia, Retrognathia, Micrognathia, Anophthalmia, Microphthalmia, High palate,... OMIM:607932
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Nablus Mask-Like Facial Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Narrow mout... OMIM:608156
Weill-Marchesani Syndrome 1
Tooth malposition, Hypoplasia of the maxilla, Microspherophakia, Abnormal dental morphology, Narr... OMIM:277600
Acrodysostosis 1 With Or Without Hormone Resistance
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Hypodontia, Mandibular... OMIM:101800
Enamel-Renal Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... ORPHA:1031
Marshall-Smith Syndrome
Eclabion, Microretrognathia, Retrognathia, Gingival overgrowth, Irregular dentition, Prominence o... OMIM:602535
Brachytelephalangic Chondrodysplasia Punctata
Hypoplasia of the maxilla, Optic disc hypoplasia, Hypoplasia of the anterior nasal spine, Optic n... ORPHA:79345
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Abnormal oral mucosa morphology, Hypoplasia of the maxilla, Conical tooth, Everted upper lip verm... OMIM:305100
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla, Wide mouth, Long philtrum ORPHA:251061
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:3044
Branchiooculofacial Syndrome
Abnormality of the dentition, Cleft upper lip, Micrognathia, Malar flattening, Anophthalmia, Lowe... OMIM:113620
3Mc Syndrome 2
Downturned corners of mouth, Cleft upper lip, Prominence of the premaxilla, Broad philtrum, High ... OMIM:265050
Charge Syndrome
Cleft upper lip, Lymphopenia, Unilateral microphthalmos, Micrognathia, Anophthalmia, Malar flatte... OMIM:214800
Cerebrofacioarticular Syndrome
Hypoplasia of the maxilla, Micrognathia, Narrow mouth, Irregular dentition ORPHA:314679
Craniofacial Microsomia 1
Hypoplasia of the maxilla, Cleft upper lip, Micrognathia, Anophthalmia, Malar flattening, Microph... OMIM:164210
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Shprintzen-Goldberg Craniosynostosis Syndrome
Hypoplasia of the maxilla, Dental malocclusion, Micrognathia, High palate, Narrow palate OMIM:182212
Ear-Patella-Short Stature Syndrome
High, narrow palate, Bifid uvula, Hypoplasia of the maxilla, Retrognathia, Micrognathia, Narrow m... ORPHA:2554
Goldberg-Shprintzen Syndrome
Hypoplasia of the maxilla, Oligodontia, Everted lower lip vermilion, Thick vermilion border, Shor... OMIM:609460
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Van Den Ende-Gupta Syndrome
High, narrow palate, Hypoplasia of the maxilla, Dental crowding, Micrognathia, Narrow mouth, Mala... OMIM:600920
Distal Deletion 19P
Short philtrum, Hypoplasia of the maxilla, Cleft palate ORPHA:96129
Aicardi Syndrome
Cleft upper lip, Prominence of the premaxilla, Microphthalmia, Short philtrum, Cleft palate ORPHA:50
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Micrognathia, Delayed eruption of teeth, Gingival overgrowth OMIM:259600
Osteoglophonic Dysplasia
Hypoplasia of the maxilla, Delayed eruption of teeth, Eruption failure, Long philtrum, Malar flat... OMIM:166250
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the maxilla, Hypoplasia of the frontal bone, Microphthalmia, Aplasia/Hypoplasia of ... ORPHA:306542
Saethre-Chotzen Syndrome
Open bite, Narrow palate, Hypoplasia of the maxilla, Cleft palate ORPHA:794
Meier-Gorlin Syndrome 3
Hypoplasia of the maxilla, Microretrognathia, Micrognathia, Narrow mouth, Thick vermilion border OMIM:613803
Stickler Syndrome
Bifid uvula, Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Cleft upper lip, Open b... ORPHA:828
Weill-Marchesani Syndrome 2
Tooth malposition, Hypoplasia of the maxilla, Microspherophakia, Abnormal dental morphology, High... OMIM:608328
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hypoplasia of the maxilla, Cleft upper lip, Micrognathia, Gingival overgrowth, Recurrent sinusiti... OMIM:213980
Myhre Syndrome
Hypoplasia of the maxilla, Cleft lip, Narrow mouth, Malar flattening, Thin upper lip vermilion, M... OMIM:139210
Shprintzen-Goldberg Syndrome
High, narrow palate, Hypoplasia of the maxilla, Micrognathia, Retrognathia ORPHA:2462
Microphthalmia, Syndromic 1
High, narrow palate, Tooth malposition, Dental crowding, Cleft upper lip, Anophthalmia, Orofacial... OMIM:309800
Rubinstein-Taybi Syndrome 1
Accessory spleen, High, narrow palate, Hypoplasia of the maxilla, Narrow palate, Dental crowding,... OMIM:180849
Aicardi Syndrome
Cleft upper lip, Prominence of the premaxilla, Cleft palate, Microphthalmia OMIM:304050
Meier-Gorlin Syndrome 1
Hypoplasia of the maxilla, Micrognathia, Narrow mouth, Microdontia, Thick vermilion border, High ... OMIM:224690
Bartsocas-Papas Syndrome 1
Hypoplasia of the maxilla, Cleft upper lip, Oral synechia, Micrognathia, Microphthalmia, Cleft pa... OMIM:263650
Craniosynostosis And Dental Anomalies
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Dental crowding, High ... OMIM:614188
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hypoplasia of the maxilla, Carious teeth, Selective tooth agenesis, Cleft upper lip, Malar flatte... OMIM:129900
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplasia of the maxilla, Carious teeth, Selective tooth agenesis, Cleft upper lip, Malar flatte... OMIM:604292
Greenberg Dysplasia
Hypoplasia of the maxilla, Hepatosplenomegaly, Micrognathia, Retrognathia OMIM:215140
Zttk Syndrome
Bifid uvula, Hypoplasia of the maxilla, Abnormality of the dentition, Downturned corners of mouth... OMIM:617140
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Microdontia, Thin vermilion border, ... ORPHA:920
Cutis Laxa, Autosomal Recessive, Type Iic
Hypoplasia of the maxilla, Dental crowding, Long philtrum, Narrow mouth, Median cleft palate, Mal... OMIM:617402
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplasia of the maxilla, Retrognathia, Long philtrum, Hepatosplenomegaly, Micrognathia, Narrow ... ORPHA:96334
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Malar flattening, Cleft of chin, Buphthalmos, Narrow palate, Cleft palate OMIM:101400
Holoprosencephaly 2
Bifid uvula, Median cleft palate, Malar flattening, Submucous cleft hard palate, Bilateral cleft ... OMIM:157170
Cutis Laxa, Autosomal Recessive, Type Ib
High palate, Micrognathia, Retrognathia, Prominence of the premaxilla OMIM:614437
Floating-Harbor Syndrome
Hypoplasia of the maxilla, Carious teeth, Persistence of primary teeth, Oligodontia, Microdontia,... ORPHA:2044
Peters-Plus Syndrome
Hypoplasia of the maxilla, Cleft upper lip, Widely spaced teeth, Long philtrum, Micrognathia, Sho... OMIM:261540
Singleton-Merten Syndrome 1
Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Thin up... OMIM:182250
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle, Intrauterine growth retardation OMIM:227645
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bifid uvula, Hypoplasia of the maxilla, Downturned corners of mouth, Submucous cleft soft palate,... ORPHA:500150
Acrofacial Dysostosis, Cincinnati Type
Hypoplasia of the maxilla, Cleft lip, Retrognathia, Median pseudocleft lip, Micrognathia, Aplasti... OMIM:616462
Fanconi Anemia, Complementation Group D2
Prolonged G2 phase of cell cycle, Patent ductus arteriosus OMIM:227646
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle OMIM:600901
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle OMIM:227650
Alkaptonuria
Methemoglobinemia, Hemolytic anemia ORPHA:56
Primrose Syndrome
Hypoplasia of the maxilla, Downturned corners of mouth, Thick lower lip vermilion, Increased size... OMIM:259050
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla OMIM:300106
Pilarowski-Bjornsson Syndrome
OMIM:617682
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
ORPHA:529965

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 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
CHD1 and SPOP synergistically protect prostate epithelial cells from DNA damage. The Prostate (October 2020) Chd1tm1c(KOMP)Wtsi Chd1tm1a(KOMP)Wtsi Chd1tm1b(KOMP)Wtsi 33022763
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
Chd1em1(IMPC)Wtsi Point Mutation Mice
Chd1em2(IMPC)Wtsi Point Mutation Mice
Chd1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Chd1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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