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Gene: Daam2 MGI:1923691

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

Download data as:  TSV  XLS

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

25 Images

View images
Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

25 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

25 Images

View images
Adult LacZ

LacZ Images Wholemount

18 Images

View images
X-ray

XRay Images Skull Lateral Orientation

14 Images

View images
X-ray

XRay Images Forepaw

14 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

View images
Legacy Phenotype Associated Images
Daam2tm1a(KOMP)Wtsi
HOM, Male, WTSI
Daam2tm1a(KOMP)Wtsi
HOM, Male, WTSI
Daam2tm1a(KOMP)Wtsi
HOM, Male, WTSI
Daam2tm1a(KOMP)Wtsi
HOM, Female, WTSI
Daam2tm1a(KOMP)Wtsi
HOM, Male, WTSI

View all 70 images

Daam2tm1a(KOMP)Wtsi
primary motor cortex, decreased primary motor cortex size, HOM, Male, WTSI
Daam2tm1a(KOMP)Wtsi
HOM, Male, WTSI
Daam2tm1a(KOMP)Wtsi
HOM, Male, WTSI
Daam2tm1a(KOMP)Wtsi
HOM, Male, WTSI
Daam2tm1a(KOMP)Wtsi
primary motor cortex, decreased primary motor cortex size, HOM, Male, WTSI

View all 9 images

Daam2tm1a(KOMP)Wtsi
abnormal cornea morphology, HOM, Female, WTSI
Daam2tm1a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Female, WTSI
Daam2tm1a(KOMP)Wtsi
abnormal cornea morphology, HOM, Female, WTSI
Daam2tm1a(KOMP)Wtsi
abnormal retinal blood vessel morphology, HOM, Male, WTSI
Daam2tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI

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
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia, Short nose OMIM:618618
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Delayed eruption of teeth, Hypocalcemic tetany, Hypocalcemia, Enamel hypoplasia OMIM:612462
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Delayed eruption of teeth, Hypocalcemic tetany, Hypocalcemia, Enamel hypoplasi... ORPHA:94089
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Taurodontia, Pulp calcification, Enamel hypoplasia, Calcinosis, Hypercalcemia OMIM:211900
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Delayed eruption of teeth, Enamel hypoplasia OMIM:103580
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micrognathia, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... ORPHA:94093
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Kenny-Caffey Syndrome, Type 2
Anemia, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Hypophosphatemia, Hypocalcemia, Iron deficiency anemia ORPHA:89937
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis OMIM:617994
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Hyperphosphatemia, Hypocalcemic tetany, Persistence of primary teeth, Calvarial os... ORPHA:93325
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Micrognathia, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... OMIM:613673
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Acrodysostosis 1 With Or Without Hormone Resistance
Hypoplasia of the maxilla, Dental malocclusion, Hyperphosphatemia, Delayed eruption of teeth, Man... OMIM:101800
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Delayed eruption of teeth, Hypocalcemic tetany, Hypocalcemia, Enamel hypoplasi... ORPHA:79444
Beta-Thalassemia
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Alpha-Thalassemia
Extramedullary hematopoiesis, Hyperplasia of the maxilla, Microcytic anemia, Hemoglobin Barts, He... ORPHA:846
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Intellectual Developmental Disorder, Autosomal Dominant 70
Wide nasal bridge, Hypoplasia of the maxilla, Retrognathia, Micrognathia, Malar flattening, Hypon... OMIM:620157
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:618858
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:300946
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... OMIM:616329
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Delayed eruption of teeth, Hypocalcemic tetany, Hypocalcemia, Enamel hypoplasi... ORPHA:79443
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... ORPHA:466650
Hemorrhagic Fever-Renal Syndrome
Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia,... ORPHA:340
Vitamin D-Dependent Rickets, Type 2A
Wide nasal bridge, Carious teeth, Delayed eruption of teeth, Hypophosphatemia, Enamel hypoplasia,... OMIM:277440
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis,... OMIM:618849
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Intellectual Developmental Disorder, Autosomal Recessive 68
Wide nasal bridge, Hypoplasia of the maxilla OMIM:618302
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... ORPHA:31824
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... ORPHA:157215
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Hypocalcemic Vitamin D-Dependent Rickets
Hypochromic anemia, Delayed eruption of teeth, Leukocytosis, Hypocalcemia, Splenomegaly, Hypophos... ORPHA:289157
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Hypophosphatemic Rickets, X-Linked Dominant
Hepatosplenomegaly, Hypophosphatemic rickets, Enamel hypomineralization, Hypophosphatemia, Abnorm... OMIM:307800
Maxillonasal Dysplasia
Hypoplasia of the maxilla, Mandibular prognathia, Short nose ORPHA:1248
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures OMIM:264700
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia OMIM:239200
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Wide nasal bridge, HbH hemoglobin, Retrognathia, Microcytic anemia, Micrognathia, Malar flattening ORPHA:98791
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Malar flattening ORPHA:261295
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Short nose ORPHA:1529
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla ORPHA:2776
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93950
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla OMIM:264270
Malan Syndrome
Retrognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Mandibular prognathia, S... OMIM:614753
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia OMIM:246560
Melanocytic Nevus Syndrome, Congenital
Short nose, Prominence of the premaxilla OMIM:137550
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Dislocation Of The Hip-Dysmorphism Syndrome
Wide nasal bridge, Malar flattening, Prominence of the premaxilla ORPHA:2412
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Mandibulofacial Dysostosis With Alopecia
Wide nasal bridge, Hypoplasia of the maxilla, Micrognathia, Delayed eruption of primary teeth, Tr... OMIM:616367
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Mandibular prognathia, Amelogenesis imperfecta OMIM:601216
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Short nose ORPHA:90653
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Retrognathia, Persistence of hemoglobin F, Micrognathia, Macro... OMIM:612561
Metaphyseal Chondrodysplasia, Jansen Type
Micrognathia, Hypophosphatemia, Hypercalcemia OMIM:156400
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hyperplasia of t... 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)
Wide nasal bridge, Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia, ... OMIM:614886
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hyperplasia of t... ORPHA:231214
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:397973
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93945
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla OMIM:156510
Raine Syndrome
Natal tooth, Micrognathia, Malar flattening, Hypophosphatemia, Enamel hypoplasia, Mandibular prog... OMIM:259775
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Frontonasal Dysplasia 1
Wide nasal bridge, Hypoplasia of the maxilla, Hypoplastic frontal sinuses OMIM:136760
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Mandibular prognathia OMIM:300676
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Hypoplasia of the maxilla, Short nose OMIM:218000
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia OMIM:166300
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Micrognathia, Malar flattening OMIM:241310
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Fibrous Dysplasia Of Bone
Abnormal facial skeleton morphology, Abnormal mandible morphology, Abnormality of the sphenoid si... ORPHA:249
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla OMIM:618737
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Peg-shaped maxillary lateral incisors, Abnormalit... ORPHA:199306
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... OMIM:227810
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Short nose ORPHA:79113
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... ORPHA:552
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Leukopenia, Microg... OMIM:216550
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron deficiency anemia, Lympho... ORPHA:1667
Andersen Cardiodysrhythmic Periodic Paralysis
Hypoplasia of the maxilla, Persistence of primary teeth, Micrognathia, Malar flattening, Prominen... OMIM:170390
Aarskog-Scott Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Delayed eruption of teeth ORPHA:915
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla ORPHA:85279
Mccune-Albright Syndrome
Pancytopenia, Hypophosphatemia, Dental malocclusion, Abnormal facial skeleton morphology ORPHA:562
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:1540
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nasal bridge, Hypoplasia of the maxilla OMIM:167730
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Micrognathia, Retrognathia, Persistence of hemoglobin F OMIM:617101
Pde4D Haploinsufficiency Syndrome
Hypoplasia of the maxilla, Abnormal dental enamel morphology, Micrognathia, Malar flattening, Man... ORPHA:439822
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla OMIM:608154
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Malar flattening ORPHA:93262
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia ORPHA:514
Lowry-Maclean Syndrome
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Delayed eruption of primary teeth, Talon c... ORPHA:2409
Pearson Syndrome
Hypomagnesemia, Pancytopenia, Hypocalcemia, Reticulocytosis, Splenomegaly, Hypokalemia, Hypophosp... ORPHA:699
Opsismodysplasia
Hypophosphatemia, Short nose OMIM:258480
Lujan-Fryns Syndrome
Hypoplasia of the maxilla, Micrognathia ORPHA:776
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Short nose OMIM:122880
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c... ORPHA:79102
Keipert Syndrome
Hypoplasia of the maxilla ORPHA:2662
Recon Progeroid Syndrome
Anemia, Delayed eruption of permanent teeth, Thrombocytopenia, Prominence of the premaxilla OMIM:620370
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Marshall Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia, Mal... ORPHA:560
Dent Disease 1
Hypophosphatemia OMIM:300009
Distal Xq28 Microduplication Syndrome
Hypoplasia of the maxilla, Neonatal hyperbilirubinemia ORPHA:293939
Pycnodysostosis
Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Hepatosplenomegaly, Micrognathia, ... ORPHA:763
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Short nose OMIM:614261
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Hypona... ORPHA:534
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Splenomegaly, Hypocalcemia, Hypophosphatemia, Anemia ORPHA:667
Lead Poisoning
Delayed eruption of teeth, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentrati... ORPHA:330015
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Micrognathia, Malar flattening OMIM:108721
Axenfeld-Rieger Syndrome, Type 2
Wide nasal bridge, Hypoplasia of the maxilla, Mandibular prognathia OMIM:601499
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Axenfeld-Rieger Syndrome
Wide nasal bridge, Hypoplasia of the maxilla ORPHA:782
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hypoplasia of the maxilla, Micrognathia OMIM:301108
Acrodysostosis
Wide nasal bridge, Hypoplasia of the maxilla, Delayed eruption of teeth, Mandibular prognathia, S... ORPHA:950
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Mi... OMIM:617052
Cleft Velum
Hypoplasia of the maxilla ORPHA:99772
Crouzon Syndrome
Hypoplasia of the maxilla ORPHA:207
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Malar flattening OMIM:109120
X-Linked Hypophosphatemia
Tooth abscess, Odontodysplasia, Hypophosphatemia, Abnormal dentin morphology ORPHA:89936
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Micrognathia, Splenomegaly, Retrognathia OMIM:608149
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets, Delayed eruption of teeth, Tooth abscess ORPHA:289176
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Microretrognathia ORPHA:228396
8Q22.1 Microdeletion Syndrome
Wide nasal bridge, Hypoplasia of the maxilla ORPHA:178303
Immunodeficiency 92
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... OMIM:619652
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Diamond-Blackfan Anemia
Wide nasal bridge, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persis... ORPHA:124
Pfeiffer Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Short nose OMIM:101600
Temtamy Preaxial Brachydactyly Syndrome
Hypoplasia of the maxilla, Micrognathia, Short nose, Talon cusp ORPHA:363417
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... ORPHA:3337
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia, Mandibular pain ORPHA:99880
Carpenter Syndrome 1
Hypoplasia of the maxilla, Polysplenia, Persistence of primary teeth, Micrognathia, Malar flattening OMIM:201000
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Type I diabetes mellitus, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:3044
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia, Mandibular pain ORPHA:143
Nager Syndrome
Hypoplasia of the maxilla, Micrognathia, Hypoplasia of the zygomatic bone ORPHA:245
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemic rickets, Splenome... OMIM:219800
Aarskog-Scott Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Short nose OMIM:305400
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Andersen-Tawil Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Persistence of primary teeth, Micrognathia, Abnorma... ORPHA:37553
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of primary teeth, Persistence of hemoglobin F OMIM:619769
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zy... ORPHA:1798
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla OMIM:619142
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Malar flattening, Absent frontal sinuses, Hypochromic microcytic anemia, Reduced ... OMIM:301040
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis ORPHA:86843
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Long nose, Hypoplasia of the maxilla, Micrognathia OMIM:309520
Van Maldergem Syndrome 1
Wide nasal bridge, Hypoplasia of the maxilla, Dental malocclusion, Micrognathia, Malar flattening OMIM:601390
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla ORPHA:481152
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... ORPHA:911
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microretrognathia ORPHA:1307
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Lymphocytosis, Thrombocytopenia, Decreased... OMIM:617718
Cowden Syndrome 1
Lymphopenia, Hypoplasia of the maxilla, Micrognathia OMIM:158350
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Hypoplasia of the maxilla, Micrognathia, Mandibular prognathia OMIM:300534
Van Maldergem Syndrome 2
Wide nasal bridge, Hypoplasia of the maxilla, Dental malocclusion, Micrognathia, Malar flattening OMIM:615546
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Hypoplasia of the maxilla, Delayed eruption of teeth, Advanced eruptio... ORPHA:192
Cohen Syndrome
Hypoplasia of the maxilla, Micrognathia, Hypoplasia of the zygomatic bone, Neutropenia ORPHA:193
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia OMIM:229600
Angelman Syndrome
Hypoplasia of the maxilla, Mandibular prognathia OMIM:105830
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathia, Micrognathia, Short nose OMIM:601812
Crouzon Syndrome
Hypoplasia of the maxilla, Mandibular prognathia OMIM:123500
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Meier-Gorlin Syndrome 4
Hypoplasia of the maxilla, Micrognathia OMIM:613804
Brachytelephalangic Chondrodysplasia Punctata
Hypoplasia of the maxilla, Short nose, Hypoplasia of the anterior nasal spine ORPHA:79345
Cerebrofacioarticular Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Micrognathia ORPHA:314679
Treacher-Collins Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Retrognathia, Abn... ORPHA:861
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
Martsolf Syndrome 1
Hypoplasia of the maxilla, Micrognathia OMIM:212720
Dyskeratosis Congenita
Hypoplasia of the maxilla, Carious teeth, Splenomegaly, Taurodontia, Thrombocytopenia, Anemia, Ab... ORPHA:1775
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Retrognathia, Persistence of hemoglobin F, Elevated red cell a... OMIM:105650
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Delayed eruption of teeth ORPHA:50814
Orofaciodigital Syndrome Ii
Agenesis of central incisor, Hypoplasia of the maxilla, Micrognathia, Malar flattening OMIM:252100
Geroderma Osteodysplasticum
Hypoplasia of the maxilla, Mandibular prognathia, Malar flattening OMIM:231070
Cowden Syndrome 5
Hypoplasia of the maxilla, Micrognathia OMIM:615108
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
Rapp-Hodgkin Syndrome
Taurodontia, Hypoplasia of the maxilla, Carious teeth, Enamel hypoplasia OMIM:129400
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester... OMIM:615812
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosis ORPHA:79456
Cowden Syndrome 6
Hypoplasia of the maxilla, Micrognathia OMIM:615109
Elsahy-Waters Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Imp... OMIM:211380
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Autoimmune hemol... ORPHA:3261
Nablus Mask-Like Facial Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Retrognathia, Short nose OMIM:608156
Marshall-Smith Syndrome
Microretrognathia, Retrognathia, Prominence of the premaxilla, Short nose, Short mandibular rami OMIM:602535
Apert Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Delayed eruption of teeth ORPHA:87
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla ORPHA:251061
Osteoglophonic Dysplasia
Hypoplasia of the maxilla, Delayed eruption of teeth, Eruption failure, Malar flattening, Mandibu... OMIM:166250
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla ORPHA:2095
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Micrognathia OMIM:613805
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Hypoplasia of the maxilla, Micrognathia, Recurrent sinusitis, Short nose OMIM:213980
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla ORPHA:2399
Shprintzen-Goldberg Craniosynostosis Syndrome
Hypoplasia of the maxilla, Micrognathia, Dental malocclusion OMIM:182212
Frontorhiny
Hypoplasia of the maxilla, Hypoplastic frontal sinuses ORPHA:391474
Goldberg-Shprintzen Syndrome
Wide nasal bridge, Hypoplasia of the maxilla OMIM:609460
3Mc Syndrome 2
Wide nasal bridge, Prominence of the premaxilla OMIM:265050
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Micrognathia, Delayed eruption of teeth OMIM:259600
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Shprintzen-Goldberg Syndrome
Hypoplasia of the maxilla, Micrognathia, Retrognathia ORPHA:2462
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Wide nasal bridge, Hypoplasia of the maxilla OMIM:106260
Meier-Gorlin Syndrome 3
Hypoplasia of the maxilla, Micrognathia, Microretrognathia OMIM:613803
Barber-Say Syndrome
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Micrognathia, Mandibul... OMIM:209885
Hypohidrotic Ectodermal Dysplasia
Hypoplasia of the maxilla, Sinusitis ORPHA:238468
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Anemia, Lymphocytosis, Neutropenia, Thrombocytopenia, Elevated circulat... ORPHA:50918
Greenberg Dysplasia
Hypoplasia of the maxilla, Hepatosplenomegaly, Micrognathia, Retrognathia OMIM:215140
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla ORPHA:794
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Taurodontia, Hypoplasia of the maxilla, Short nose OMIM:305100
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Wide nasal bridge, Hypoplasia of the frontal bone, Aplasia/Hypoplasia of the frontal sinuses, Hyp... ORPHA:306542
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Micrognathia, Hypoc... OMIM:619991
Myhre Syndrome
Craniofacial hyperostosis, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:2588
Rubinstein-Taybi Syndrome 1
Accessory spleen, Wide nasal bridge, Hypoplasia of the maxilla, Dental malocclusion, Retrognathia... OMIM:180849
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:1101
Van Den Ende-Gupta Syndrome
Hypoplasia of the maxilla, Micrognathia, Malar flattening OMIM:600920
Ear-Patella-Short Stature Syndrome
Hypoplasia of the maxilla, Micrognathia, Retrognathia, Mandibular aplasia ORPHA:2554
Bartsocas-Papas Syndrome 1
Hypoplasia of the maxilla, Micrognathia, Short nose OMIM:263650
Distal Deletion 19P
Hypoplasia of the maxilla ORPHA:96129
Holoprosencephaly 9
Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Dental malocclusion, Malar flattening, A... OMIM:610829
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla OMIM:277600
Meier-Gorlin Syndrome 1
Hypoplasia of the maxilla, Micrognathia OMIM:224690
Stickler Syndrome
Hypoplasia of the maxilla, Microretrognathia, Abnormal dental enamel morphology, Micrognathia, Ma... ORPHA:828
Branchioskeletogenital Syndrome
Hypoplasia of the maxilla, Carious teeth, Mandibular prognathia, Abnormal dentin morphology ORPHA:1299
Aicardi Syndrome
Prominence of the premaxilla ORPHA:50
Zttk Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Short nose OMIM:617140
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Wide nasal bridge, Hypoplasia of the maxilla, Retrognathia, Hepatosplenomegaly, Micrognathia, Man... ORPHA:96334
Microphthalmia With Limb Anomalies
Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Micrognathia ORPHA:1106
Myhre Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Malar flattening OMIM:139210
Aicardi Syndrome
Prominence of the premaxilla OMIM:304050
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla OMIM:608328
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone ORPHA:920
Cutis Laxa, Autosomal Recessive, Type Ib
Micrognathia, Retrognathia, Prominence of the premaxilla OMIM:614437
Saethre-Chotzen Syndrome
Long nose, Hypoplasia of the maxilla, Cleft of chin, Malar flattening OMIM:101400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplasia of the maxilla, Carious teeth, Malar flattening OMIM:604292
Cutis Laxa, Autosomal Recessive, Type Iic
Hypoplasia of the maxilla, Mandibular prognathia, Malar flattening OMIM:617402
Primrose Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Increased size of the mandible, Glucose intolerance... OMIM:259050
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hypoplasia of the maxilla, Carious teeth, Malar flattening OMIM:129900
Craniosynostosis And Dental Anomalies
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Supernumerary tooth, M... OMIM:614188
Axenfeld-Rieger Syndrome, Type 1
Wide nasal bridge, Hypoplasia of the maxilla OMIM:180500
Floating-Harbor Syndrome
Long nose, Hypoplasia of the maxilla, Carious teeth, Persistence of primary teeth ORPHA:2044
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Short nose ORPHA:500150
Acrofacial Dysostosis, Cincinnati Type
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Aplastic zygomatic arch, Short nose OMIM:616462
Alkaptonuria
Methemoglobinemia, Hemolytic anemia ORPHA:56
Peters-Plus Syndrome
Conical incisor, Hypoplasia of the maxilla, Micrognathia, Agenesis of maxillary lateral incisor OMIM:261540
Singleton-Merten Syndrome 1
Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth germ OMIM:182250
Craniofacial Microsomia 1
Hypoplasia of the maxilla, Maxillozygomatic hypoplasia, Micrognathia, Malar flattening OMIM:164210
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla OMIM:300106
Holoprosencephaly 2
Aplasia of the premaxilla, Malar flattening 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 PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Daam2tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Daam2tm1a(KOMP)Wtsi PMC6459510
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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Daam2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Daam2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Daam2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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