Gene Summary

Name:
dishevelled associated activator of morphogenesis 2
Synonyms:
2310016D11Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating aspartate transaminase level Daam2tm1b(KOMP)Wtsi HOM Early adult 1.40×10-06
increased circulating alanine transaminase level Daam2tm1b(KOMP)Wtsi HOM Early adult 1.85×10-13
abnormal maxilla morphology Daam2tm1b(KOMP)Wtsi HOM Early adult 2.30×10-08
increased hemoglobin content Daam2tm1b(KOMP)Wtsi HOM   Early adult 7.70×10-05
abnormal snout morphology Daam2tm1b(KOMP)Wtsi HOM Early adult 3.50×10-10
increased large unstained cell number Daam2tm1b(KOMP)Wtsi HOM Early adult 8.43×10-05
increased circulating amylase level Daam2tm1b(KOMP)Wtsi HOM Early adult 1.94×10-06
abnormal snout morphology Daam2tm1a(KOMP)Wtsi HOM Early adult 2.70×10-10
abnormal cranium morphology Daam2tm1a(KOMP)Wtsi HOM Early adult 4.96×10-09
increased fasting circulating glucose level Daam2tm1a(KOMP)Wtsi HOM Early adult 5.20×10-05
increased circulating phosphate level Daam2tm1b(KOMP)Wtsi HOM   Early adult 3.87×10-07
abnormal maxilla morphology Daam2tm1a(KOMP)Wtsi HOM Early adult 2.28×10-05
decreased body length Daam2tm1a(KOMP)Wtsi HOM Early adult 1.23×10-08
increased circulating alkaline phosphatase level Daam2tm1a(KOMP)Wtsi HOM Early adult 6.45×10-06

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Not available
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 50% (1 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote 50% (1 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 50% (1 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote 50% (1 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 50% (1 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail somite N/A homozygote 50% (1 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
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%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

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

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

25 Images

Adult LacZ

LacZ Images Wholemount

18 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

25 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

25 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Legacy Phenotype Associated Images

View all 70 images

View all 9 images

Human diseases caused by Daam2 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 Daam2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Nephrotic Syndrome, Type 24
OMIM:619263

The table below shows human diseases predicted to be associated to Daam2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia OMIM:612462
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Pulp calcification, Hyperphosphatemia, Taurodontia, Enamel hypoplasia OMIM:211900
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Calvarial osteosclerosis, Hypercalcemia OMIM:617994
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
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
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Enamel hypoplasia, Hyperphosphatemia, Delayed eruption of teeth OMIM:103580
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Micrognathia OMIM:241410
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Tooth abscess, Hypocalcemia, Hypophosphatemia ORPHA:89937
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Autosomal Dominant Kenny-Caffey Syndrome
Persistence of primary teeth, Carious teeth, Anemia, Hyperphosphatemia, Hypocalcemic tetany, Calv... ORPHA:93325
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia, Micrognathia ORPHA:2323
Pseudohypoparathyroidism Type 1B
Calcinosis, Delayed eruption of teeth, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enam... ORPHA:94089
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia OMIM:127000
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Dental malocclusion,... OMIM:101800
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Pseudohypoparathyroidism Type 1C
Calcinosis, Delayed eruption of teeth, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enam... ORPHA:79444
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th... ORPHA:848
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Wide nasal bridge, ... OMIM:620157
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Pseudohypoparathyroidism Type 1A
Calcinosis, Delayed eruption of teeth, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enam... ORPHA:79443
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp... OMIM:619743
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... ORPHA:466650
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate... ORPHA:340
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Carious teeth, Wide nasal bridge, Hypophosphatemia, Enamel hypoplasia,... OMIM:277440
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... OMIM:618849
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Wide nasal bridge OMIM:618302
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... ORPHA:157215
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis OMIM:606445
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabe... OMIM:262190
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Micrognathia OMIM:300946
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia OMIM:239200
Maxillonasal Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Short nose ORPHA:1248
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Enamel hypomineralization, ... OMIM:307800
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures OMIM:264700
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Micrognathia, Microcytic anemia, Wide nasal bridge, Malar flattening, Retrognathia, HbH hemoglobin ORPHA:98791
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Malar flattening, Wide nasal bridge ORPHA:261295
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Short nose ORPHA:1529
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Short nose OMIM:137550
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93950
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla ORPHA:2776
Dislocation Of The Hip-Dysmorphism Syndrome
Malar flattening, Prominence of the premaxilla, Wide nasal bridge ORPHA:2412
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla OMIM:246560
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Short nose, Ret... OMIM:614753
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Short nose ORPHA:90653
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:241530
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus, Wide nasal b... OMIM:616367
Metaphyseal Chondrodysplasia, Jansen Type
Micrognathia, Hypercalcemia, Hypophosphatemia OMIM:156400
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta OMIM:601216
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures ORPHA:289157
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Diamond-Blackfan Anemia 6
Macrocytic anemia, Micrognathia, Persistence of hemoglobin F, Increased mean corpuscular volume, ... OMIM:612561
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Prominence of the premaxilla, Wide nasa... OMIM:614886
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:397973
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93945
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla OMIM:156510
Raine Syndrome
Mandibular prognathia, Natal tooth, Micrognathia, Hypophosphatemia, Malar flattening, Short nose,... OMIM:259775
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Frontonasal Dysplasia 1
Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Wide nasal bridge OMIM:136760
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla OMIM:300676
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Short nose, Wide nasal bridge OMIM:218000
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Malar flattening, Micrognathia OMIM:241310
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Fibrous Dysplasia Of Bone
Hypercalcemia, Abnormal zygomatic bone morphology, Abnormal facial skeleton morphology, Abnormal ... ORPHA:249
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia OMIM:166300
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Malar flattening, Short nose, Micrognathia ORPHA:79113
Cleft Lip/Palate
Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta... ORPHA:199306
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... ORPHA:1667
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla OMIM:618737
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, Leukopenia, Neutropenia, Macrodontia of permanent maxill... OMIM:216550
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Pro... OMIM:170390
Aarskog-Scott Syndrome
Hypoplasia of the maxilla, Wide nasal bridge, Delayed eruption of teeth ORPHA:915
Mccune-Albright Syndrome
Pancytopenia, Dental malocclusion, Abnormal facial skeleton morphology, Hypophosphatemia ORPHA:562
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla ORPHA:85279
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Wide nasal bridge OMIM:167730
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:1540
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla... ORPHA:439822
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Micrognathia, Long nose, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Wide nasal bridge, S... ORPHA:950
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Retrognathia, Micrognathia OMIM:617101
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Short nose OMIM:122880
Opsismodysplasia
Short nose, Hypophosphatemia OMIM:258480
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla OMIM:608154
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Talon cusp, Short nos... ORPHA:2409
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Malar flattening ORPHA:93262
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Pearson Syndrome
Reticulocytosis, Pancytopenia, Splenomegaly, Hypomagnesemia, Hypophosphatemia, Anemia, Hypokalemi... ORPHA:699
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia ORPHA:514
Lujan-Fryns Syndrome
Hypoplasia of the maxilla, Micrognathia ORPHA:776
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin ORPHA:423479
Keipert Syndrome
Hypoplasia of the maxilla ORPHA:2662
Recon Progeroid Syndrome
Thrombocytopenia, Prominence of the premaxilla, Delayed eruption of permanent teeth, Anemia OMIM:620370
Marshall Syndrome
Micrognathia, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Wide nasal bridge, Hypoplas... ORPHA:560
Distal Xq28 Microduplication Syndrome
Hypoplasia of the maxilla, Neonatal hyperbilirubinemia ORPHA:293939
Dent Disease 1
Hypophosphatemia OMIM:300009
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Splenomegaly, Hypocalcemia, Hypophosphatemia, Anemia ORPHA:667
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Alport Syndrome 3A, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Short nose OMIM:614261
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ... OMIM:301074
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Mandibular prognathia, Delayed eruption of teeth, Hypoammonemia, Abnormal dental en... ORPHA:534
Pycnodysostosis
Obtuse angle of mandible, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxi... ORPHA:763
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Lead Poisoning
Delayed eruption of teeth, Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthes... ORPHA:330015
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypoplasia of the maxilla, Wide nasal bridge OMIM:601499
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Malar flattening, Micrognathia OMIM:108721
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Wide nasal bridge ORPHA:782
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Micrognathia, Thrombocytopenia, Persistenc... OMIM:617052
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Renal hypophosphatemia, Hypophosphatemic rickets, Hypocalcemic tetany,... ORPHA:289176
X-Linked Hypophosphatemia
Odontodysplasia, Tooth abscess, Abnormal dentin morphology, Hypophosphatemia ORPHA:89936
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... ORPHA:3337
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Malar flattening OMIM:109120
Crouzon Syndrome
Hypoplasia of the maxilla ORPHA:207
Pfeiffer Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Short nose OMIM:101600
8Q22.1 Microdeletion Syndrome
Hypoplasia of the maxilla, Wide nasal bridge ORPHA:178303
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Hypoplasia of the maxilla ORPHA:228396
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Splenomegaly, Retrognathia, Micrognathia OMIM:608149
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Micrognathia, Erythroid hypoplasia, Reticulocytope... ORPHA:124
Temtamy Preaxial Brachydactyly Syndrome
Hypoplasia of the maxilla, Short nose, Talon cusp, Micrognathia ORPHA:363417
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Cleft Velum
Hypoplasia of the maxilla ORPHA:99772
Hyperparathyroidism-Jaw Tumor Syndrome
Mandibular pain, Hypercalcemia, Hypophosphatemia ORPHA:99880
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Parathyroid Carcinoma
Mandibular pain, Hypercalcemia, Hypophosphatemia ORPHA:143
Aarskog-Scott Syndrome
Hypoplasia of the maxilla, Short nose, Wide nasal bridge OMIM:305400
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Type I diabetes mellitus, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:3044
Carpenter Syndrome 1
Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Polysplenia, Malar flattening OMIM:201000
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Nager Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:245
Cystinosis, Nephropathic
Hyponatremia, Splenomegaly, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagne... OMIM:219800
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Reduced alpha/beta synthesis ratio, Hypochromic mi... OMIM:301040
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Persistence of primary teeth OMIM:619769
Andersen-Tawil Syndrome
Abnormality of dental color, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathi... ORPHA:37553
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis ORPHA:86843
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Long nose, Hypoplasia of the maxilla, Micrognathia OMIM:309520
Dysostosis, Stanescu Type
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Carious teeth, Abnormal dental ename... ORPHA:1798
Van Maldergem Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Wide nasal bridge, Malar flattening OMIM:601390
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased... OMIM:617718
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla OMIM:619142
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microretrognathia ORPHA:1307
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla ORPHA:481152
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla, Wide nasal bridge OMIM:106260
Cowden Syndrome 1
Hypoplasia of the maxilla, Lymphopenia, Micrognathia OMIM:158350
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Hypoplasia of the maxilla, Micrognathia OMIM:300534
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Acrofacial Dysostosis, Cincinnati Type
Hypoplasia of the maxilla, Retrognathia, Aplastic zygomatic arch, Micrognathia OMIM:616462
Van Maldergem Syndrome 2
Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Wide nasal bridge, Malar flattening OMIM:615546
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, Advanced eruption of teeth, Craniofacial hyperostosis, Delayed eruptio... ORPHA:192
Cohen Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia, Neutropenia ORPHA:193
Angelman Syndrome
Mandibular prognathia, Hypoplasia of the maxilla OMIM:105830
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Short nose, Retrognathia OMIM:601812
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Cerebrofacioarticular Syndrome
Hypoplasia of the maxilla, Wide nasal bridge, Micrognathia ORPHA:314679
Meier-Gorlin Syndrome 4
Hypoplasia of the maxilla, Micrognathia OMIM:613804
Crouzon Syndrome
Mandibular prognathia, Hypoplasia of the maxilla OMIM:123500
Brachytelephalangic Chondrodysplasia Punctata
Hypoplasia of the maxilla, Short nose, Hypoplasia of the anterior nasal spine ORPHA:79345
Treacher-Collins Syndrome
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Wide nasal bridge, Hy... ORPHA:861
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Geroderma Osteodysplasticum
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening OMIM:231070
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Hypoplasia of teeth ORPHA:50814
Mohr Syndrome
Hypoplasia of the maxilla, Malar flattening, Agenesis of central incisor, Micrognathia OMIM:252100
Cowden Syndrome 5
Hypoplasia of the maxilla, Micrognathia OMIM:615108
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
Martsolf Syndrome 1
Hypoplasia of the maxilla, Micrognathia OMIM:212720
Rapp-Hodgkin Syndrome
Hypoplasia of the maxilla, Enamel hypoplasia, Taurodontia, Carious teeth OMIM:129400
Dyskeratosis Congenita
Abnormality of neutrophils, Hypoplasia of the maxilla, Thrombocytopenia, Splenomegaly, Carious te... ORPHA:1775
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Cowden Syndrome 6
Hypoplasia of the maxilla, Micrognathia OMIM:615109
Nablus Mask-Like Facial Syndrome
Hypoplasia of the maxilla, Short nose, Retrognathia, Wide nasal bridge OMIM:608156
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis ORPHA:79456
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Micrognathia, Reticulocytopenia, Persistence of... OMIM:105650
Apert Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Delayed eruption of teeth ORPHA:87
Marshall-Smith Syndrome
Microretrognathia, Prominence of the premaxilla, Short mandibular rami, Short nose, Retrognathia OMIM:602535
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Supernumerary tooth,... OMIM:211380
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Eruption failure, Ma... OMIM:166250
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla ORPHA:251061
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla ORPHA:2095
3Mc Syndrome 2
Prominence of the premaxilla, Wide nasal bridge OMIM:265050
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Micrognathia OMIM:613805
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Wide nasal bridge, Recurrent sinusitis, Short nose OMIM:213980
Frontorhiny
Hypoplasia of the maxilla, Hypoplastic frontal sinuses ORPHA:391474
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla ORPHA:2399
Goldberg-Shprintzen Syndrome
Hypoplasia of the maxilla, Wide nasal bridge OMIM:609460
Shprintzen-Goldberg Craniosynostosis Syndrome
Hypoplasia of the maxilla, Dental malocclusion, Micrognathia OMIM:182212
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Delayed eruption of teeth, Micrognathia OMIM:259600
Shprintzen-Goldberg Syndrome
Hypoplasia of the maxilla, Retrognathia, Micrognathia ORPHA:2462
Meier-Gorlin Syndrome 3
Hypoplasia of the maxilla, Microretrognathia, Micrognathia OMIM:613803
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Dental... OMIM:209885
Kikuchi-Fujimoto Disease
Elevated circulating C-reactive protein concentration, Splenomegaly, Anemia, Leukopenia, Lymphocy... ORPHA:50918
Hypohidrotic Ectodermal Dysplasia
Hypoplasia of the maxilla, Sinusitis ORPHA:238468
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the frontal sinuses, Wide nasal bridge, Hypoplas... ORPHA:306542
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla ORPHA:794
Greenberg Dysplasia
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Hepatosplenomegaly OMIM:215140
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Micrognathia, Thrombocytopeni... OMIM:619991
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypoplasia of the maxilla, Short nose, Taurodontia OMIM:305100
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Rubinstein-Taybi Syndrome 1
Accessory spleen, Micrognathia, Hypoplasia of the maxilla, Talon cusp, Dental malocclusion, Wide ... OMIM:180849
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Craniofacial hyperostosis ORPHA:2588
Holoprosencephaly 9
Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Agenesis of incisor, Dental malocclusion... OMIM:610829
Van Den Ende-Gupta Syndrome
Hypoplasia of the maxilla, Malar flattening, Micrognathia OMIM:600920
Ear-Patella-Short Stature Syndrome
Hypoplasia of the maxilla, Retrognathia, Mandibular aplasia, Micrognathia ORPHA:2554
Bartsocas-Papas Syndrome 1
Hypoplasia of the maxilla, Short nose, Micrognathia OMIM:263650
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:1101
Distal Deletion 19P
Hypoplasia of the maxilla ORPHA:96129
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla OMIM:277600
Meier-Gorlin Syndrome 1
Hypoplasia of the maxilla, Micrognathia OMIM:224690
Stickler Syndrome
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Advanced eruption of ... ORPHA:828
Branchioskeletogenital Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Carious teeth, Abnormal dentin morphology ORPHA:1299
Zttk Syndrome
Hypoplasia of the maxilla, Short nose, Wide nasal bridge OMIM:617140
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Wide nasal bridge, Hepatosplenome... ORPHA:96334
Aicardi Syndrome
Prominence of the premaxilla ORPHA:50
Microphthalmia With Limb Anomalies
Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Micrognathia ORPHA:1106
Aicardi Syndrome
Prominence of the premaxilla OMIM:304050
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla OMIM:608328
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening OMIM:139210
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Micrognathia OMIM:614437
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone ORPHA:920
Saethre-Chotzen Syndrome
Long nose, Hypoplasia of the maxilla, Cleft of chin, Malar flattening OMIM:101400
Primrose Syndrome
Diabetes mellitus, Elevated circulating alpha-fetoprotein concentration, Hypoplasia of the maxill... OMIM:259050
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening OMIM:617402
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplasia of the maxilla, Malar flattening, Carious teeth OMIM:604292
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla, Wide nasal bridge OMIM:180500
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hypoplasia of the maxilla, Malar flattening, Carious teeth OMIM:129900
Floating-Harbor Syndrome
Long nose, Hypoplasia of the maxilla, Carious teeth, Persistence of primary teeth ORPHA:2044
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Supernumerary tooth,... OMIM:614188
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Short nose, Wide nasal bridge ORPHA:500150
Peters-Plus Syndrome
Hypoplasia of the maxilla, Conical incisor, Agenesis of maxillary lateral incisor, Micrognathia OMIM:261540
Singleton-Merten Syndrome 1
Hypoplasia of the maxilla, Eruption failure, Hypoplasia of the tooth germ, Carious teeth OMIM:182250
Craniofacial Microsomia 1
Hypoplasia of the maxilla, Malar flattening, Maxillozygomatic hypoplasia, Micrognathia OMIM:164210
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla OMIM:300106
Holoprosencephaly 2
Malar flattening, Aplasia of the premaxilla OMIM:157170
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Nephrotic Syndrome, Type 24
OMIM:619263

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.

Phenotype Allele Zygosity Sex Life Stage
Brain - developmental and structural abnormality Daam2tm1a(KOMP)Wtsi HOM Early adult

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 Daam2.

There are 11 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Intestinal Paneth cell differentiation relies on asymmetric regulation of Wnt signaling by Daam1/2. Science advances (November 2023) Daam2tm1a(KOMP)Wtsi 38000028
Regional heterogeneity of astrocyte morphogenesis dictated by the formin protein, Daam2, modifies circuit function. EMBO reports (October 2021) Daam2tm1a(KOMP)Wtsi PMC8647146
The Daam2-VHL-Nedd4 axis governs developmental and regenerative oligodendrocyte differentiation. Genes & development (August 2020) Daam2tm1c(KOMP)Wtsi Daam2tm1a(KOMP)Wtsi 32792353
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Daam2tm1a(KOMP)Wtsi