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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
abnormal embryo size Chd1tm1b(KOMP)Wtsi HET E9.5 0.00
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 1.07×10-05
embryonic lethality prior to tooth bud stage Chd1tm1b(KOMP)Wtsi HOM   E12.5 0.00
decreased mean corpuscular hemoglobin concentration Chd1tm1b(KOMP)Wtsi HET Early adult 2.07×10-06
abnormal tooth morphology Chd1tm1b(KOMP)Wtsi HET Early adult 1.58×10-05
abnormal maxilla morphology Chd1tm1b(KOMP)Wtsi HET Early adult 1.58×10-05
increased grip strength Chd1tm1b(KOMP)Wtsi HET Early adult 2.33×10-05
abnormal eye morphology Chd1tm1b(KOMP)Wtsi HET E12.5 0.00
anophthalmia Chd1tm1b(KOMP)Wtsi HET Early adult 0.00
preweaning lethality, complete penetrance Chd1tm1b(KOMP)Wtsi HOM   Early adult 0.00

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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.

X-ray

XRay Images Skull Lateral Orientation

12 Images

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Embryo LacZ

LacZ images wholemount

49 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Hind Leg and Hip

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Combined SHIRPA and Dysmorphology

Images

4 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Eye Morphology

Images Ophthalmoscopy

1 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
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft OMIM:611638
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Amelogenesis Imperfecta
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... ORPHA:88661
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Microphthalmia, Syndromic 12
Anophthalmia, Micrognathia, Cleft palate, Microphthalmia, Retrognathia OMIM:615524
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Anencephaly 2
Anophthalmia, Median cleft palate, Median cleft lip, Cleft maxillary alveolar ridge OMIM:619452
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... ORPHA:2972
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... ORPHA:83451
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag... ORPHA:2791
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen... ORPHA:49042
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Hydrolethalus
Anophthalmia, Micrognathia, Submucous cleft hard palate, Gingival cleft, Cleft palate, Unilateral... ORPHA:2189
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Abnormal spaced incisors, Everted lower lip vermilion, Thick vermilion border, Shor... ORPHA:411986
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... ORPHA:494444
Cerebrooculonasal Syndrome
Anophthalmia, High palate, Widely spaced teeth, Solitary median maxillary central incisor, Long p... ORPHA:66625
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... OMIM:224120
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cleft palate OMIM:164180
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... OMIM:601216
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Micrognathia, Cleft palate, Persistence of hemoglobin F, Increased mean corpus... OMIM:300946
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Cockayne Syndrome Type 2
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Widely spaced primary tee... ORPHA:90322
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia, Cleft palate, Cleft upper lip OMIM:613885
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Wide mouth, Retrognathia, Anisocytosis, Micrognathia OMIM:604273
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Gingival bleedi... ORPHA:98870
Trisomy 13
Anophthalmia, Median cleft lip, Abnormality of the dentition, High, narrow palate, Cleft palate, ... ORPHA:3378
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits OMIM:619787
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth OMIM:246560
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition ORPHA:2776
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum OMIM:156510
Solitary Median Maxillary Central Incisor
Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Torus palatinus, Solitary median m... OMIM:147250
Anophthalmia Plus Syndrome
Non-midline cleft lip, Anophthalmia, Cleft palate, Bilateral cleft lip and palate ORPHA:1104
Maxillonasal Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Cleft palate, Tooth agenesis, Microd... ORPHA:1248
Diamond-Blackfan Anemia 6
Macrocytic anemia, Micrognathia, Cleft upper lip, Cleft palate, Persistence of hemoglobin F, Incr... OMIM:612561
Cockayne Syndrome Type 1
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Abnormality of the dentit... 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
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Oslam Syndrome
Carious teeth, Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia o... OMIM:610829
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Microphthalmia With Limb Anomalies
Anophthalmia, Cleft upper lip, Deep philtrum, Cleft palate, High palate, Microphthalmia, Retrogna... OMIM:206920
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Enamel hypoplasia, Hypodontia, Oral mucosal blisters OMIM:226650
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth OMIM:137550
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening OMIM:241310
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum ORPHA:93945
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Widely-spaced incisors OMIM:618737
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormally large globe, Abnorm... ORPHA:363417
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard palate, Cleft palate, ... ORPHA:2250
Frontonasal Dysplasia 1
Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Widely-spaced maxillary... OMIM:136760
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93950
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Crowded maxillary incisors ORPHA:397973
Trisomy 1Q
Microretrognathia, Anophthalmia, Cleft palate, Narrow mouth ORPHA:261344
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... OMIM:614753
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Hypoplasia o... OMIM:257850
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Micrognathia, Microcytic anemia, High palate, Malar flattening, Retrognathia, HbH hemoglobin ORPHA:98791
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate OMIM:610125
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Anophthalmia, Hypoplasia of the maxilla, High, narrow palate, Long philtru... ORPHA:1101
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, High palate ORPHA:139471
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Malar flattening, Narrow mouth, Long philtrum ORPHA:261295
Lujan-Fryns Syndrome
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, High pala... ORPHA:776
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia, Narrow palate, Cleft palate, Downturned corners of mouth, H... OMIM:605627
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum OMIM:619142
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Hypoplasia of the maxilla, Malar fla... OMIM:620157
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, High palate OMIM:300676
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:3145
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia, Abnormal spleen morphology ORPHA:2470
Dislocation Of The Hip-Dysmorphism Syndrome
Malar flattening, Prominence of the premaxilla, Abnormal palate morphology, Narrow mouth ORPHA:2412
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla OMIM:618302
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... ORPHA:1946
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Thin upper lip vermilion, Micrognathia, Persistence of hemoglobin F, Everted lower lip vermilion,... OMIM:617101
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ... OMIM:259710
Walker-Warburg Syndrome
Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bifid uvula ORPHA:899
Recon Progeroid Syndrome
Smooth philtrum, Prominence of the premaxilla, Dental crowding, Anemia, Delayed eruption of perma... OMIM:620370
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Narrow mouth ORPHA:1529
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Aarskog-Scott Syndrome
Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the maxilla, Abnormality of the dentiti... ORPHA:915
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cleft palate, Long philtrum ORPHA:90653
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the iris, Everted lower lip vermilion, Hypodonti... ORPHA:782
Jalili Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1873
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... ORPHA:50814
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Leukopenia, Short philtrum, Neutrop... OMIM:216550
Odontomicronychial Dysplasia
Carious teeth, Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormalit... ORPHA:1811
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Microphthalmia, Syndromic 9
Anophthalmia, Micrognathia, Bilateral microphthalmos, Multilobulated spleen, Hypoplastic spleen OMIM:601186
Keipert Syndrome
Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow ORPHA:2662
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia, Retrognathia, Micrognathia ORPHA:3412
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, High palate ORPHA:85279
Pycnodysostosis
Obtuse angle of mandible, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxi... ORPHA:763
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology ORPHA:1540
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 hemoglobin F, Dental crowding, Persistence of primary teeth OMIM:619769
Andersen Cardiodysrhythmic Periodic Paralysis
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Persistence of primary teeth, H... OMIM:170390
Hereditary Methemoglobinemia
Lip discoloration, Methemoglobinemia ORPHA:621
Holoprosencephaly
Anophthalmia, Median cleft lip, Bilateral cleft lip, Abnormality of the spleen, Deep philtrum, To... ORPHA:2162
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, Carious teeth, Cleft upper lip, Velopharyngeal insuffic... OMIM:129400
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario... ORPHA:1798
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Micrognathia, Thrombocytopenia, Oral ulcer... OMIM:617052
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Malar flattening, Abnormal palate morphology ORPHA:93262
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Micrognathia, Hypoplasia of the maxilla, High, nar... ORPHA:193
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Abnormal paranasal sinus... ORPHA:141099
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Hypoplasia of the maxilla, Thick vermilion border, Long philtrum ORPHA:228396
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Malar flattening, Rieger anomaly OMIM:109120
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypoplasia of the maxilla, Everted lower lip vermilion, Short philtrum, Hy... OMIM:601499
Nager Syndrome
Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, Cleft palate, Wide mouth, Hypopla... ORPHA:245
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Dental crowding, Abnormally large globe, Carious teeth, Absen... OMIM:269300
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth, Microdonti... ORPHA:1307
Meckel Syndrome
Accessory spleen, Anophthalmia, Aplasia/Hypoplasia of the tongue, Micrognathia, Asplenia, Cleft p... ORPHA:564
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar flattening ORPHA:79113
Treacher-Collins Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the ma... ORPHA:861
Microphthalmia With Limb Anomalies
Macrodontia, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla, Cleft upper l... ORPHA:1106
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ... ORPHA:2409
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Micrognathia, Downturned corners of mouth, Malar flattening ORPHA:264200
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Mohr Syndrome
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... OMIM:252100
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla OMIM:608154
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Long philtrum OMIM:615877
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,... ORPHA:439822
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Marshall Syndrome
Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Hypoplastic frontal sinuse... ORPHA:560
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Malar flattening, Cleft palate, Micrognathia OMIM:108721
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Anophthalmia, Persistence of primary teeth, Supernumerary tooth, Submu... OMIM:300166
Coffin-Lowry Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t... ORPHA:192
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Thick lower lip vermilion, Hi... ORPHA:293939
Fibular Hemimelia
Anophthalmia, Thrombocytopenia ORPHA:93323
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mouth ORPHA:950
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Cleft palate... OMIM:106260
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Protruding tongue, Absent frontal sinuses, Diastema, Reduced alpha/beta sy... OMIM:301040
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te... ORPHA:37553
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, High palate OMIM:218000
Crouzon Syndrome
Hypoplasia of the maxilla, Narrow palate ORPHA:207
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Deep philtrum... OMIM:309520
Angelman Syndrome
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi... OMIM:105830
Joubert Syndrome 21
Splenomegaly, Anophthalmia, Chronic sinusitis OMIM:615636
Kagami-Ogata Syndrome
Micrognathia, Hypoplasia of the maxilla, Splenomegaly, Long philtrum, Retrognathia OMIM:608149
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Leukopenia, Poikilo... ORPHA:79277
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Diastem... OMIM:300534
Frontorhiny
Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Microphthalmia, Bifid tongue ORPHA:391474
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
8Q22.1 Microdeletion Syndrome
Hypoplasia of the maxilla, Long philtrum, Submucous cleft hard palate, Abnormality of the dentition ORPHA:178303
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Microphthalmia, Bilateral microphthalmos ORPHA:2399
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Abnormal dental enamel morphology, Micrognathia, Mandibular aplasia, Microphthalmia... ORPHA:2556
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Thick vermilion border, Long philtrum, Microphthalmia, Leukemia ORPHA:2526
Martsolf Syndrome 1
Micrognathia, Hypoplasia of the maxilla, High palate, Short philtrum, Long philtrum, Microphthalm... OMIM:212720
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla, Thin vermilion border, High palate, Long philtrum, Smooth philtrum ORPHA:481152
Carpenter Syndrome 1
Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Agenesis of permanent teet... OMIM:201000
Meier-Gorlin Syndrome 4
Hypoplasia of the maxilla, Narrow mouth, Thick lower lip vermilion, Micrognathia OMIM:613804
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Pfeiffer Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Dental crowding OMIM:101600
Fraser Syndrome 1
Anophthalmia, Dental crowding, Cleft upper lip, Bilateral microphthalmos, Dental malocclusion, Cl... OMIM:219000
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph... OMIM:209885
Van Maldergem Syndrome 1
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ... OMIM:601390
Diamond-Blackfan Anemia
Acute myeloid leukemia, Cleft soft palate, Pure red cell aplasia, Micrognathia, Erythroid hypopla... ORPHA:124
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Cleft palate OMIM:614261
Focal Dermal Hypoplasia
Delayed eruption of teeth, Anophthalmia, Cleft upper lip, Dental malocclusion, Cleft palate, Olig... OMIM:305600
Crouzon Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Dental crowding OMIM:123500
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Hypoplasia of the maxilla, Cleft palate, Retrognathia, Aplastic zygomatic arch OMIM:616462
Dyskeratosis Congenita
Abnormality of neutrophils, Abnormality of the dentition, Hypoplasia of the maxilla, Thrombocytop... ORPHA:1775
Charge Syndrome
Delayed eruption of teeth, Anophthalmia, Cleft upper lip, Abnormal soft palate morphology, Cleft ... ORPHA:138
Aarskog-Scott Syndrome
Cleft upper lip, Hypoplasia of the maxilla, Cleft palate, Curved linear dimple below the lower li... OMIM:305400
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
Cowden Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth OMIM:615108
Fraser Syndrome
Anophthalmia, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial cleft, High palate... ORPHA:2052
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... OMIM:211380
Cowden Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth, Lymphopenia OMIM:158350
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Rieger anomaly, Hypoplasia of the maxilla, Hypoplasia of the iris, Olig... OMIM:180500
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Abnormality of the spleen, Anophthalmia ORPHA:2538
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Thin vermili... OMIM:601812
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, T... ORPHA:238468
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla, Oligodontia, Abnormality of the dentition ORPHA:2095
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Tented upper lip vermilion, Abnormal hemoglobin, Abnormality of the dentition, Thick lower lip ve... ORPHA:847
Cowden Syndrome 6
Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth OMIM:615109
Meier-Gorlin Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon... OMIM:613805
Van Maldergem Syndrome 2
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ... OMIM:615546
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard... ORPHA:2588
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Aplasia/Hypoplasia of the optic nerve, HbH hemoglobin ORPHA:423479
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla OMIM:614886
Branchioskeletogenital Syndrome
Mandibular prognathia, Unilateral cleft palate, Abnormality of the dentition, Hypoplasia of the m... ORPHA:1299
Lead Poisoning
Delayed eruption of teeth, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology ORPHA:330015
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Narrow palate, Cleft... ORPHA:87
Geroderma Osteodysplasticum
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening, Periodontitis OMIM:231070
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Abnormality of the dentition, Hypoplasia of the maxilla, High palate, E... OMIM:608156
Microphthalmia, Syndromic 6
Anophthalmia, Micrognathia, Cleft palate, High palate, Microphthalmia, Microglossia, Retrognathia... OMIM:607932
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Micrognathia, Cleft upper lip, Reticulocytopeni... OMIM:105650
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Dental malocclusion,... OMIM:101800
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma... OMIM:305100
Brachytelephalangic Chondrodysplasia Punctata
Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine, Optic disc hypoplasia, Optic n... ORPHA:79345
3Mc Syndrome 2
Prominence of the premaxilla, Cleft upper lip, Cleft palate, Downturned corners of mouth, High pa... OMIM:265050
Marshall-Smith Syndrome
Microretrognathia, Eclabion, Prominence of the premaxilla, Irregular dentition, Optic nerve hypop... OMIM:602535
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:3044
Branchiooculofacial Syndrome
Anophthalmia, Micrognathia, Cleft upper lip, Abnormality of the dentition, Lower lip pit, Cleft o... OMIM:113620
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla, Wide mouth, Long philtrum ORPHA:251061
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla, Tooth malposition, Microspherophakia, Narrow palate OMIM:277600
Charge Syndrome
Anophthalmia, Micrognathia, Cleft upper lip, Unilateral microphthalmos, Cleft palate, Microphthal... OMIM:214800
Cerebrofacioarticular Syndrome
Hypoplasia of the maxilla, Irregular dentition, Narrow mouth, Micrognathia ORPHA:314679
Craniofacial Microsomia 1
Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Cleft palate, Wide mouth,... OMIM:164210
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Ear-Patella-Short Stature Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Submucous cleft hard palate, Cleft ... ORPHA:2554
Shprintzen-Goldberg Craniosynostosis Syndrome
Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Narrow palate, High palate OMIM:182212
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Van Den Ende-Gupta Syndrome
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Cleft palate, High... OMIM:600920
Goldberg-Shprintzen Syndrome
Hypoplasia of the maxilla, Oligodontia, Everted lower lip vermilion, Short philtrum, Thick vermil... OMIM:609460
Aicardi Syndrome
Prominence of the premaxilla, Cleft upper lip, Cleft palate, Short philtrum, Microphthalmia ORPHA:50
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the maxilla, Cleft palate, Aplasia/Hypoplasia of the frontal sinuses, Microphthalmi... ORPHA:306542
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Gingival overgrowth, Delayed eruption of teeth, Micrognathia OMIM:259600
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Narrow palate, Cleft palate, Open bite ORPHA:794
Distal Deletion 19P
Hypoplasia of the maxilla, Short philtrum, Cleft palate ORPHA:96129
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Eruption failure, Hi... OMIM:166250
Meier-Gorlin Syndrome 3
Microretrognathia, Micrognathia, Hypoplasia of the maxilla, Thick vermilion border, Narrow mouth OMIM:613803
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Gingival overgrowth, Microdontia of pri... OMIM:213980
Stickler Syndrome
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Open... ORPHA:828
Myhre Syndrome
Mandibular prognathia, Thin upper lip vermilion, Hypoplasia of the maxilla, Cleft lip, Cleft pala... OMIM:139210
Shprintzen-Goldberg Syndrome
Hypoplasia of the maxilla, High, narrow palate, Retrognathia, Micrognathia ORPHA:2462
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Prolonged G2 phase of cell cycle OMIM:227645
Microphthalmia, Syndromic 1
Anophthalmia, Dental crowding, Cleft upper lip, High, narrow palate, Agenesis of maxillary latera... OMIM:309800
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Microspherophakia, Narrow palate, High palate, Tooth malposition OMIM:608328
Rubinstein-Taybi Syndrome 1
Accessory spleen, Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxi... OMIM:180849
Aicardi Syndrome
Microphthalmia, Prominence of the premaxilla, Cleft palate, Cleft upper lip OMIM:304050
Meier-Gorlin Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Cleft palate, Thick vermilion border, High palate, Narro... OMIM:224690
Bartsocas-Papas Syndrome 1
Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Cleft palate, Microphthalmia, Oral syne... OMIM:263650
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
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle OMIM:227650
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... OMIM:614188
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasia of the maxilla, Ca... OMIM:129900
Greenberg Dysplasia
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Hepatosplenomegaly OMIM:215140
Zttk Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft hard palate, Downturned ... OMIM:617140
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Wide mouth, Thin vermilion border, Hypoplasia of the zygomatic bone, M... ORPHA:920
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasia of the maxilla, Ca... OMIM:604292
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Narrow mouth, Mal... OMIM:617402
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ... ORPHA:96334
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Cleft of chin, Narrow palate, Cleft palate, Buphthalmos, Malar flattening OMIM:101400
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, High palate, Micrognathia OMIM:614437
Floating-Harbor Syndrome
Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Wide mouth, Oligodontia, ... ORPHA:2044
Peters-Plus Syndrome
Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, M... OMIM:261540
Holoprosencephaly 2
Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary ... OMIM:157170
Singleton-Merten Syndrome 1
Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta... OMIM:182250
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic nerve hypoplasia, Hypoplasia of the maxilla, Cleft palate, Downturned corners of mouth, Thi... ORPHA:500150
Primrose Syndrome
Hypoplasia of the maxilla, Thick lower lip vermilion, Downturned corners of mouth, High palate, T... 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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