Gene: Daam2 MGI:1923691

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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 alanine transaminase level Daam2tm1b(KOMP)Wtsi HOM Early adult 1.85×10-13
increased hemoglobin content Daam2tm1b(KOMP)Wtsi HOM   Early adult 7.70×10-05
abnormal maxilla morphology Daam2tm1b(KOMP)Wtsi HOM Early adult 1.43×10-08
abnormal snout morphology Daam2tm1b(KOMP)Wtsi HOM Early adult 4.33×10-10
increased circulating phosphate level Daam2tm1b(KOMP)Wtsi HOM   Early adult 3.87×10-07
abnormal cranium morphology Daam2tm1a(KOMP)Wtsi HOM Early adult 4.96×10-09
abnormal snout morphology Daam2tm1a(KOMP)Wtsi HOM Early adult 2.70×10-10
increased circulating aspartate transaminase level Daam2tm1b(KOMP)Wtsi HOM Early adult 1.40×10-06
increased circulating amylase level Daam2tm1b(KOMP)Wtsi HOM Early adult 1.96×10-06
increased fasting circulating glucose level Daam2tm1a(KOMP)Wtsi HOM Early adult 5.20×10-05
increased large unstained cell number Daam2tm1b(KOMP)Wtsi HOM Early adult 8.43×10-05
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
abnormal maxilla morphology Daam2tm1a(KOMP)Wtsi HOM Early adult 2.28×10-05

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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
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Not available
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 100% (2 of 2)
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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 Whole Body Dorso Ventral

25 Images

Adult LacZ

LacZ Images Wholemount

18 Images

X-ray

XRay Images Whole Body Lateral Orientation

25 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

25 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Forepaw

14 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
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
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
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Hyperphosphatasia With Mental Retardation Syndrome 3
Short nose, Hyperphosphatemia, Wide nasal bridge OMIM:614207
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Pulp calcification, Taurodontia, Calcinosis, Hyperphosphatemia OMIM:211900
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Calvarial osteosclerosis, Hypercalcemia, Hyperphosphatemia OMIM:617994
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemi... ORPHA:94089
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Micrognathia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Microcytic anemia, Incre... ORPHA:398063
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Craniofacial-Deafness-Hand Syndrome
Malar flattening, Short nose, Hypoplasia of the maxilla OMIM:122880
Neuroleptic Malignant Syndrome
Hypocalcemia, Thrombocytosis, Leukocytosis, Hypernatremia, Hyponatremia, Hyperuricemia, Elevated ... ORPHA:94093
Sanjad-Sakati Syndrome
Hypocalcemia, Abnormal dental enamel morphology, Micrognathia, Hyperphosphatemia ORPHA:2323
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Tooth abscess, Hypophosphatemia ORPHA:89937
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Hypocalcemic tetany, Persistence of primary teeth, Anemia, Calvarial osteosclerosi... ORPHA:93325
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hyperuricemia, Hydroxyprolinemia OMIM:239000
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Transient hypophosphatemia, Hyperphosphatemia, Anemia OMIM:127000
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Acrodysostosis 1 With Or Without Hormone Resistance
Delayed eruption of teeth, Mandibular prognathia, Dental malocclusion, Hyperphosphatemia, Hypopla... OMIM:101800
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Delayed eruption of teeth, Hypocalcemia, Hypocalcemic tetany, Calcinosis, Hype... ORPHA:79444
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Abnor... ORPHA:848
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Hypomandibular Faciocranial Dysostosis
Micrognathia, Malar flattening, Hypoplasia of the maxilla OMIM:241310
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia ORPHA:428
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Delayed eruption of teeth, Hypocalcemia, Hypocalcemic tetany, Calcinosis, Hype... ORPHA:79443
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hypoplasia of the nasal bone, Absent/hypoplastic paranasal sinuses, Mandibular prog... ORPHA:280651
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Thrombocytopenia, Elevated circulating creatine kinase concentration, Hyperkalemia,... ORPHA:466650
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Diabetic ketoacidosis... OMIM:618858
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide level ORPHA:157215
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Mandibular prognathia, Hypogl... OMIM:262190
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hyp... ORPHA:31824
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis, Neutropenia, Anemia, Increased mea... OMIM:618849
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Maxillonasal Dysplasia
Mandibular prognathia, Short nose, Hypoplasia of the maxilla ORPHA:1248
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Malar flattening, Maxillozygomatic hypoplasia ORPHA:2972
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hyperglycemia, Diabet... OMIM:606176
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Hypercalcemia, Anemia, Splenomegaly OMIM:239200
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Delayed eruption of teeth, Carious teeth, Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla OMIM:608432
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Hypophosphatemic rickets, Enamel hypomineralization OMIM:307800
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Wide nasal bridge, HbH hemoglobin, Retrognathia, Micrognathia, Malar flattening ORPHA:98791
20P12.3 Microdeletion Syndrome
Malar flattening, Wide nasal bridge, Hypoplasia of the maxilla ORPHA:261295
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Prominent frontal sinuses, Antegonial notching of mandible, Persistence of pri... OMIM:170390
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla OMIM:300676
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hemato... ORPHA:231222
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Spondylospinal Thoracic Dysostosis
Micrognathia, Hypoplasia of the maxilla OMIM:601809
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla OMIM:264270
Craniofacial-Deafness-Hand Syndrome
Short nose, Hypoplasia of the maxilla ORPHA:1529
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93950
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla ORPHA:2776
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla OMIM:246560
Cleft Velum
Hypoplasia of the maxilla ORPHA:99772
Osteolysis Syndrome, Recessive
Hypoplasia of the maxilla OMIM:259610
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Hypokalemia OMIM:227810
Multicentric Carpotarsal Osteolysis Syndrome
Micrognathia, Hypoplasia of the maxilla OMIM:166300
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Mandibular prognathia, Hypoplasia of the maxilla OMIM:601216
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Micrognathia, Hypercalcemia OMIM:156400
Stickler Syndrome Type 1
Short nose, Hypoplasia of the maxilla ORPHA:90653
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Short nose OMIM:137550
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth, Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:289157
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Trismus, Wide nasal bridge, Micrognathia, Hypoplasia of the ma... OMIM:616367
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Hyperplasia of the maxilla, Abnormality of iron homeostasis, Decre... ORPHA:231226
Raine Syndrome
Enamel hypoplasia, Hypophosphatemia, Short nose, Mandibular prognathia, Natal tooth, Micrognathia... OMIM:259775
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Retrognathia, Micrognathia, Macro... OMIM:612561
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Malar flattening, Wide nasal bridge ORPHA:2412
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Beta-Thalassemia Major
Hypochromic microcytic anemia, Hyperplasia of the maxilla, Abnormality of iron homeostasis, Decre... ORPHA:231214
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, Wide nasal bridge, Hypoplasia of the maxilla OMIM:218000
Frontonasal Dysplasia 1
Hypoplastic frontal sinuses, Wide nasal bridge, Hypoplasia of the maxilla OMIM:136760
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla OMIM:156510
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:397973
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Cystinosis
Hypophosphatemia, Hypokalemia ORPHA:213
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Fibrous Dysplasia Of Bone
Hypophosphatemia, Abnormality of the sphenoid sinus, Abnormality of facial skeleton, Abnormality ... ORPHA:249
Opsismodysplasia
Hypophosphatemia, Short nose OMIM:258480
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Eruption failure, Maxil... OMIM:273050
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93945
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Mandibulofacial Dysostosis-Microcephaly Syndrome
Micrognathia, Malar flattening, Short nose, Hypoplasia of the maxilla ORPHA:79113
Cohen Syndrome
Neutropenia, Macrodontia of permanent maxillary central incisor, Leukopenia, Micrognathia, Hypopl... OMIM:216550
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Hypoplasia of the maxilla OMIM:618737
Cleft Lip/Palate
Agenesis of lateral incisor, Peg-shaped maxillary lateral incisors, Abnormality of dental eruptio... ORPHA:199306
Aarskog-Scott Syndrome
Delayed eruption of teeth, Wide nasal bridge, Hypoplasia of the maxilla ORPHA:915
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Abnormal dental enamel morphology, Hypoplasia of teeth, Long nose, Mac... OMIM:257850
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Hypoplasia of the maxilla ORPHA:85279
Acrodysostosis
Delayed eruption of teeth, Short nose, Mandibular prognathia, Wide nasal bridge, Hypoplasia of th... ORPHA:950
Mccune-Albright Syndrome
Abnormality of facial skeleton, Dental malocclusion, Pancytopenia, Hypophosphatemia ORPHA:562
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyponatremia, Neutropenia, Hypoalbumin... ORPHA:1667
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:1540
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Short nose, Mandibular prognathia, Micrognathia, Malar flatten... ORPHA:439822
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nasal bridge, Hypoplasia of the maxilla OMIM:167730
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla OMIM:608154
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Sp... OMIM:308240
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Hyperuricemia ORPHA:469
Lujan-Fryns Syndrome
Micrognathia, Hypoplasia of the maxilla ORPHA:776
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Talon cusp, Short nose, Retrognathia, Micrognathia, Hypoplasia... ORPHA:2409
Microcephaly-Capillary Malformation Syndrome
Short nose, Hypoplasia of the maxilla OMIM:614261
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla OMIM:601812
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Malar flattening, Hypoplasia of the maxilla ORPHA:93262
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Supernumerary tooth, Hypoplasia of the maxilla OMIM:614188
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Reticulocytosis, Neutropenia, Thrombocytopenia, Pancytopenia, Hyp... ORPHA:699
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Anemia ORPHA:514
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Wide nasal bridge, HbH hemoglobin, Reduced alpha/beta synthesis ra... OMIM:141750
Dent Disease 1
Hypophosphatemia OMIM:300009
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Hypophosphatemic Rickets
Hypophosphatemia, Periapical tooth abscess, Tooth abscess, Craniofacial osteosclerosis, Craniofac... ORPHA:437
Thyrotoxic Periodic Paralysis
Mildly elevated creatine kinase, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia... ORPHA:79102
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Hypoplasia of the maxilla ORPHA:293939
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Hypophosphatemic rickets, Bicarbonatu... ORPHA:3337
Marshall Syndrome
Short nose, Hypoplastic frontal sinuses, Wide nasal bridge, Hypoplasia of the zygomatic bone, Mic... ORPHA:560
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla OMIM:300534
X-Linked Hypophosphatemia
Hypophosphatemia, Abnormal dentin morphology, Tooth abscess, Odontodysplasia ORPHA:89936
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Wide nasal bridge, Hypoplasia of the maxilla OMIM:601499
Atelosteogenesis, Type Iii
Micrognathia, Malar flattening, Hypoplasia of the maxilla OMIM:108721
Familial Parathyroid Adenoma
Hypophosphatemia, Hypercalcemia ORPHA:99877
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Mandibular pain, Hypercalcemia, Hypophosphatemia ORPHA:99880
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Malar flattening, Hypoplasia of the maxilla OMIM:109120
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Delayed eruption of teeth, Abnormal dental enamel morphology, Carious teeth, Hy... ORPHA:534
Acrocephalopolysyndactyly Type Iii
Mandibular prognathia, Malar flattening, Hypoplasia of the maxilla OMIM:101120
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Delayed eruption of teeth, Hypocalcemia, Anemia, Splenomegaly ORPHA:667
X-Linked Lymphoproliferative Disease
Increased proportion of CD25+ mast cells, Lymphocytosis, T lymphocytopenia, Hemophagocytosis, Inc... ORPHA:2442
Keipert Syndrome
Hypoplasia of the maxilla ORPHA:2662
Parathyroid Carcinoma
Infantile hypercalcemia, Mandibular pain, Hypercalcemia, Hypophosphatemia ORPHA:143
Axenfeld-Rieger Syndrome
Wide nasal bridge, Hypoplasia of the maxilla ORPHA:782
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Tooth abscess, Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Crouzon Disease
Hypoplasia of the maxilla ORPHA:207
Infantile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration ORPHA:411629
Primary Parathyroid Hyperplasia
Hypophosphatemia, Hypercalcemia ORPHA:99878
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Lead Poisoning
Delayed eruption of teeth, Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, D... ORPHA:330015
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Hypoplasia of the maxilla ORPHA:228396
Nablus Mask-Like Facial Syndrome
Retrognathia, Short nose, Wide nasal bridge, Hypoplasia of the maxilla OMIM:608156
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Kagami-Ogata Syndrome
Splenomegaly, Retrognathia, Micrognathia, Hypoplasia of the maxilla OMIM:608149
8Q22.1 Microdeletion Syndrome
Wide nasal bridge, Hypoplasia of the maxilla ORPHA:178303
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Micrognathia, Short nose, Hypoplasia of the maxilla ORPHA:363417
Pfeiffer Syndrome
Mandibular prognathia, Short nose, Hypoplasia of the maxilla OMIM:101600
Dent Disease
Elevated circulating creatine kinase concentration, Hyperuricosuria, Renal hypophosphatemia ORPHA:1652
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Long nose, Micrognathia, Hypoplasia of the maxilla OMIM:309520
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Short nose, HbH hemoglobin, Reduced alpha/beta synthesis ratio, Ab... OMIM:301040
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Type I diabetes mellitus, Hypoplasia of the maxilla ORPHA:3044
Subaortic Stenosis--Short Stature Syndrome
Malar flattening, Short nose, Wide nasal bridge, Hypoplasia of the maxilla OMIM:271960
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Hypoplasia of the maxilla ORPHA:1307
Nager Syndrome
Micrognathia, Hypoplasia of the zygomatic bone, Hypoplasia of the maxilla ORPHA:245
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hyperuricosuria OMIM:229600
Van Maldergem Syndrome 2
Wide nasal bridge, Dental malocclusion, Micrognathia, Malar flattening, Hypoplasia of the maxilla OMIM:615546
Van Maldergem Syndrome 1
Wide nasal bridge, Dental malocclusion, Micrognathia, Malar flattening, Hypoplasia of the maxilla OMIM:601390
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly ORPHA:86843
Aarskog-Scott Syndrome
Short nose, Wide nasal bridge, Hypoplasia of the maxilla OMIM:305400
Dysostosis, Stanescu Type
Carious teeth, Abnormal dental enamel morphology, Hypoplasia of the zygomatic bone, Hypoplasia of... ORPHA:1798
Carpenter Syndrome 1
Polysplenia, Persistence of primary teeth, Micrognathia, Malar flattening, Hypoplasia of the maxilla OMIM:201000
Marshall-Smith Syndrome
Prominence of the premaxilla, Short nose, Short mandibular rami, Retrognathia, Malar flattening OMIM:602535
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla OMIM:619142
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Micrognathia, Hypoplasia of the maxilla OMIM:616462
Greenberg Dysplasia
Extramedullary hematopoiesis, Hepatosplenomegaly, Micrognathia, Malar flattening, Abnormal circul... OMIM:215140
Cowden Syndrome 1
Lymphopenia, Micrognathia, Hypoplasia of the maxilla OMIM:158350
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla ORPHA:2399
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Delayed eruption of teeth, Advanced eruption of teeth, Hypoplasia of t... ORPHA:192
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,... OMIM:260400
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Meier-Gorlin Syndrome 4
Micrognathia, Hypoplasia of the maxilla OMIM:613804
Angelman Syndrome
Mandibular prognathia, Hypoplasia of the maxilla OMIM:105830
Geroderma Osteodysplasticum
Mandibular prognathia, Malar flattening, Hypoplasia of the maxilla OMIM:231070
Martsolf Syndrome 1
Micrognathia, Hypoplasia of the maxilla OMIM:212720
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Micrognathia, Mandibular condyle hypoplasia ORPHA:2975
Crouzon Syndrome
Mandibular prognathia, Hypoplasia of the maxilla OMIM:123500
Cohen Syndrome
Micrognathia, Neutropenia, Hypoplasia of the zygomatic bone, Hypoplasia of the maxilla ORPHA:193
Treacher-Collins Syndrome
Abnormal dental enamel morphology, Wide nasal bridge, Hypoplasia of the thymus, Hypoplasia of the... ORPHA:861
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Wide nasal bridge, Hypoplasia of the maxilla OMIM:106260
Cerebrofacioarticular Syndrome
Micrognathia, Wide nasal bridge, Hypoplasia of the maxilla ORPHA:314679
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla ORPHA:481152
Brachytelephalangic Chondrodysplasia Punctata
Hypoplasia of the anterior nasal spine, Short nose, Hypoplasia of the maxilla ORPHA:79345
Mohr Syndrome
Agenesis of central incisor, Micrognathia, Malar flattening, Hypoplasia of the maxilla OMIM:252100
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Hypoplasia of the maxilla OMIM:211370
Goldberg-Shprintzen Syndrome
Wide nasal bridge, Hypoplasia of the maxilla OMIM:609460
Cowden Syndrome 5
Micrognathia, Hypoplasia of the maxilla OMIM:615108
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Carious teeth, Hypoplasia of teeth, Hypoplasia of the maxilla ORPHA:50814
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ... ORPHA:3261
Cowden Syndrome 6
Micrognathia, Hypoplasia of the maxilla OMIM:615109
Apert Syndrome
Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla ORPHA:87
Meier-Gorlin Syndrome 5
Micrognathia, Hypoplasia of the maxilla OMIM:613805
Dyskeratosis Congenita
Carious teeth, Taurodontia, Abnormality of neutrophils, Thrombocytopenia, Anemia, Splenomegaly, H... ORPHA:1775
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Elsahy-Waters Syndrome
Delayed eruption of teeth, Mandibular prognathia, Wide nasal bridge, Multiple impacted teeth, Den... OMIM:211380
3Mc Syndrome 2
Prominence of the premaxilla, Wide nasal bridge OMIM:265050
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla ORPHA:2095
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Micrognathia, Short nose, Hypoplasia of the maxilla OMIM:213980
Frontorhiny
Hypoplastic frontal sinuses, Hypoplasia of the maxilla ORPHA:391474
Meier-Gorlin Syndrome 3
Microretrognathia, Micrognathia, Hypoplasia of the maxilla OMIM:613803
Rapp-Hodgkin Syndrome
Hypoplasia of the maxilla OMIM:129400
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla OMIM:259600
Shprintzen-Goldberg Craniosynostosis Syndrome
Dental malocclusion, Micrognathia, Hypoplasia of the maxilla OMIM:182212
Van Den Ende-Gupta Syndrome
Malar flattening, Hypoplasia of the maxilla OMIM:600920
Shprintzen-Goldberg Syndrome
Retrognathia, Micrognathia, Hypoplasia of the maxilla ORPHA:2462
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Short nose, Taurodontia, Hypoplasia of the maxilla OMIM:305100
Hypohidrotic Ectodermal Dysplasia
Hypoplasia of the maxilla, Sinusitis ORPHA:238468
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the frontal bone, Aplasia/Hypoplasia of the frontal sinuses, Wide nasal bridge, Hyp... ORPHA:306542
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla ORPHA:794
Kikuchi-Fujimoto Disease
Lymphocytosis, Neutropenia, Thrombocytopenia, Splenomegaly, Elevated circulating C-reactive prote... ORPHA:50918
Myhre Syndrome
Craniofacial hyperostosis, Mandibular prognathia, Hypoplasia of the maxilla ORPHA:2588
Ear-Patella-Short Stature Syndrome
Mandibular aplasia, Retrognathia, Micrognathia, Hypoplasia of the maxilla ORPHA:2554
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:1101
Holoprosencephaly 9
Hypoplasia of the premaxilla, Agenesis of incisor, Dental malocclusion, Malar flattening, Hypopla... OMIM:610829
Meier-Gorlin Syndrome 1
Micrognathia, Hypoplasia of the maxilla OMIM:224690
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia ORPHA:139402
Distal Monosomy 19P13.3
Hypoplasia of the maxilla ORPHA:96129
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla OMIM:277600
Bartsocas-Papas Syndrome 1
Micrognathia, Short nose, Hypoplasia of the maxilla OMIM:263650
Hemifacial Microsomia
Micrognathia, Malar flattening, Hypoplasia of the maxilla OMIM:164210
Stickler Syndrome
Abnormal dental enamel morphology, Short nose, Micrognathia, Malar flattening, Advanced eruption ... ORPHA:828
Zttk Syndrome
Short nose, Wide nasal bridge, Hypoplasia of the maxilla OMIM:617140
Aarskog Syndrome, Autosomal Dominant
Macrocytic anemia, Wide nasal bridge, Hypoplasia of the maxilla OMIM:100050
Branchioskeletogenital Syndrome
Carious teeth, Mandibular prognathia, Abnormal dentin morphology, Hypoplasia of the maxilla ORPHA:1299
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Wide nasal bridge, Retrognathia, Micrognathia, Hepatosplenomegaly, Hypopla... ORPHA:96334
Aicardi Syndrome
Prominence of the premaxilla ORPHA:50
Aicardi Syndrome
Prominence of the premaxilla OMIM:304050
Myhre Syndrome
Mandibular prognathia, Malar flattening, Hypoplasia of the maxilla OMIM:139210
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla OMIM:608328
Rubinstein-Taybi Syndrome 1
Enamel hypoplasia, Talon cusp, Dental malocclusion, Wide nasal bridge, Retrognathia, Micrognathia... OMIM:180849
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla ORPHA:1106
Saethre-Chotzen Syndrome
Cleft of chin, Long nose, Malar flattening, Hypoplasia of the maxilla OMIM:101400
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Micrognathia OMIM:614437
Holoprosencephaly 7
Hypoplasia of the premaxilla, Short nose OMIM:610828
Ablepharon Macrostomia Syndrome
Hypoplasia of the zygomatic bone, Hypoplasia of the maxilla ORPHA:920
Floating-Harbor Syndrome
Carious teeth, Long nose, Persistence of primary teeth, Hypoplasia of the maxilla ORPHA:2044
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Carious teeth, Malar flattening, Hypoplasia of the maxilla OMIM:604292
Primrose Syndrome
Glucose intolerance, Diabetes mellitus, Increased size of the mandible, Malar flattening, Hypopla... OMIM:259050
Axenfeld-Rieger Syndrome, Type 1
Wide nasal bridge, Hypoplasia of the maxilla OMIM:180500
Neurofaciodigitorenal Syndrome
Hypoplasia of the premaxilla, Mandibular prognathia ORPHA:2673
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Malar flattening, Hypoplasia of the maxilla OMIM:129900
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Short nose, Wide nasal bridge, Hypoplasia of the maxilla ORPHA:500150
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Micrognathia ORPHA:2166
Peters-Plus Syndrome
Conical incisor, Micrognathia, Agenesis of maxillary lateral incisor, Hypoplasia of the maxilla OMIM:261540
Singleton-Merten Syndrome 1
Carious teeth, Hypoplasia of the tooth germ, Eruption failure, Hypoplasia of the maxilla OMIM:182250
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla OMIM:300106
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 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The Daam2-VHL-Nedd4 axis governs developmental and regenerative oligodendrocyte differentiation. Genes & development (August 2020) Daam2tm1c(KOMP)Wtsi Daam2tm1a(KOMP)Wtsi 32792353
An atlas of genetic influences on osteoporosis in humans and mice. Nature genetics (December 2018) Daam2tm1a(KOMP)Wtsi PMC6358485
Daam2 driven degradation of VHL promotes gliomagenesis. eLife (October 2017) Daam2tm1a(KOMP)Wtsi PMC5650470
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Daam2tm1a(KOMP)Wtsi PMC5827107
Daam2-PIP5K is a regulatory pathway for Wnt signaling and therapeutic target for remyelination in the CNS. Neuron (March 2015) Daam2tm1a(KOMP)Wtsi PMC4402944
Integration of left-right Pitx2 transcription and Wnt signaling drives asymmetric gut morphogenesis via Daam2. Developmental cell (September 2013) Daam2tm1a(KOMP)Wtsi PMC3965270

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MGI Allele Allele Type Produced
Daam2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Daam2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice

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