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 phosphate level Daam2tm1b(KOMP)Wtsi HOM   Early adult 3.87×10-07
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 aspartate transaminase level Daam2tm1b(KOMP)Wtsi HOM Early adult 1.40×10-06
increased circulating alkaline phosphatase level Daam2tm1a(KOMP)Wtsi HOM Early adult 6.45×10-06
increased large unstained cell number Daam2tm1b(KOMP)Wtsi HOM Early adult 8.43×10-05
increased hemoglobin content Daam2tm1b(KOMP)Wtsi HOM   Early adult 7.70×10-05
abnormal maxilla morphology Daam2tm1b(KOMP)Wtsi HOM Early adult 2.24×10-08
abnormal snout morphology Daam2tm1a(KOMP)Wtsi HOM Early adult 2.70×10-10
abnormal snout morphology Daam2tm1b(KOMP)Wtsi HOM Early adult 3.56×10-10
increased circulating amylase level Daam2tm1b(KOMP)Wtsi HOM Early adult 1.90×10-06
increased fasting circulating glucose level Daam2tm1a(KOMP)Wtsi HOM Early adult 5.20×10-05
increased circulating alanine transaminase level Daam2tm1b(KOMP)Wtsi HOM Early adult 1.85×10-13
abnormal cranium morphology Daam2tm1a(KOMP)Wtsi HOM Early adult 4.96×10-09

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

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

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

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

Anatomy Background staining in controls (WT)
adrenal gland 0.56% (3 of 534)
aorta 0.19% (1 of 540)
bone 0.0%
brain 0.94% (5 of 533)
brainstem 0.38% (2 of 529)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 525)
cerebellum 0.55% (3 of 544)
cerebral cortex 0.38% (2 of 533)
esophagus 1.63% (6 of 369)
eye 0.0%
gall bladder 0.0%
heart 0.19% (1 of 522)
hippocampus 0.37% (2 of 545)
hypothalamus 0.38% (2 of 532)
kidney 4.79% (26 of 543)
large intestine 5.31% (28 of 527)
liver 0.0%
lower urinary tract 0.19% (1 of 529)
lung 0.37% (2 of 536)
lymph node 0.18% (1 of 544)
mammary gland 0.0%
olfactory lobe 0.37% (2 of 537)
oral epithelium 0.0%
ovary 0.18% (1 of 543)
oviduct 0.0%
pancreas 0.96% (5 of 520)
parathyroid gland 0.19% (1 of 529)
peripheral nervous system 0.37% (2 of 541)
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 1.86% (10 of 537)
skeletal muscle 0.0%
skin 0.19% (1 of 533)
small intestine 5.01% (27 of 539)
spinal cord 0.55% (3 of 543)
spleen 0.38% (2 of 531)
stomach 3.77% (20 of 530)
striatum 0.37% (2 of 535)
testis 1.13% (6 of 530)
thymus 0.19% (1 of 534)
thyroid gland 3.01% (16 of 532)
trachea 0.56% (3 of 535)
uterus 0.38% (2 of 527)
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 1.23% (5 of 408)
ear 0.24% (1 of 420)
embryo 0.49% (2 of 406)
eye 0.0%
footplate 0.23% (1 of 432)
forebrain 0.23% (1 of 426)
forelimb 0.0%
handplate 0.24% (1 of 420)
head 1.14% (5 of 439)
heart 0.23% (1 of 432)
hindbrain 1.23% (5 of 405)
hindlimb 0.25% (1 of 402)
liver 0.0%
lung 0.24% (1 of 424)
mandibular process 0.24% (1 of 422)
maxillary process 0.24% (1 of 419)
midbrain 0.23% (1 of 426)
oral cavity 0.24% (1 of 412)
skin 0.24% (1 of 418)
tail 0.0%
tail somite group 0.24% (1 of 420)

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

X-ray

XRay Images Skull Dorso Ventral Orientation

25 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

25 Images

Adult LacZ

LacZ Images Wholemount

18 Images

Auditory Brain Stem Response

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

4 Images

Legacy Phenotype Associated Images

View all 70 images

View all 9 images

Human diseases caused by Daam2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Daam2 by orthology or direct annotation.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
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, Hyperphosphatemia, Hyperkalemia OMIM:154275
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Short nose, Hyperphosphatemia, Wide nasal bridge OMIM:614207
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Taurodontia, Pulp calcification, Enamel hypoplasia, Hyperphosphatemia, Calcinosis OMIM:211900
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Calvarial osteosclerosis, Hyperphosphatemia, Hypercalcemia OMIM:617994
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Delayed eruption of teeth OMIM:612462
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Delayed eruption of teeth, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemi... ORPHA:94089
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micrognathia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Delayed eruption of teeth OMIM:103580
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia ORPHA:99845
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, H... ORPHA:94093
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Hypophosphatemia, Iron deficiency anemia, Hypocalcemia ORPHA:89937
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Sanjad-Sakati Syndrome
Micrognathia, Hypocalcemia, Hyperphosphatemia, Abnormal dental enamel morphology ORPHA:2323
Craniofacial-Deafness-Hand Syndrome
Short nose, Hypoplasia of the maxilla, Malar flattening OMIM:122880
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Autosomal Dominant Kenny-Caffey Syndrome
Persistence of primary teeth, Carious teeth, Hypocalcemic tetany, Hyperphosphatemia, Calvarial os... ORPHA:93325
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Kenny-Caffey Syndrome, Type 2
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Acrodysostosis 1 With Or Without Hormone Resistance
Dental malocclusion, Delayed eruption of teeth, Hypoplasia of the maxilla, Hyperphosphatemia, Man... OMIM:101800
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th... ORPHA:848
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Delayed eruption of teeth, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemi... ORPHA:79444
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... OMIM:618858
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Delayed eruption of teeth, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemi... ORPHA:79443
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia ORPHA:428
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Elevated circulating creatine kinase ... OMIM:619743
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Thrombocytop... ORPHA:466650
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Elevated circulating creatinine concentration, Hyperphosphatemia, Anemia, Thrombocy... ORPHA:340
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Malar flattening, Absent/hypoplastic paranasal sinuses, Hypoplasia of the nasal bon... ORPHA:280651
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Wide nasal bridge OMIM:618302
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Wide nasal bridge, Delayed eruption of teeth, Carious teeth, Enamel hypoplasia,... OMIM:277440
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,... OMIM:618849
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide level ORPHA:157215
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Advanced eruption of teeth, ... OMIM:262190
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Abnormal blood ion con... ORPHA:31824
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... OMIM:606176
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Maxillonasal Dysplasia
Mandibular prognathia, Short nose, Hypoplasia of the maxilla ORPHA:1248
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calci... OMIM:307800
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Splenomegaly, Hypercalcemia, Calcinosis, Anemia OMIM:239200
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Malar flattening, Retrognathia, Micrognathia, Microcytic anemia, HbH hemoglobin, Wide nasal bridge ORPHA:98791
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla OMIM:608432
Craniofacial-Deafness-Hand Syndrome
Short nose, Hypoplasia of the maxilla ORPHA:1529
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
20P12.3 Microdeletion Syndrome
Malar flattening, Hypoplasia of the maxilla, Wide nasal bridge ORPHA:261295
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Hypophosphatemia, Delayed eruption of teeth, Hypocalcemic seizures OMIM:264700
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Spondylospinal Thoracic Dysostosis
Micrognathia, Hypoplasia of the maxilla OMIM:601809
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93950
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla ORPHA:2776
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla OMIM:246560
Melanocytic Nevus Syndrome, Congenital
Short nose, Prominence of the premaxilla OMIM:137550
Cleft Velum
Hypoplasia of the maxilla ORPHA:99772
Stickler Syndrome Type 1
Short nose, Hypoplasia of the maxilla ORPHA:90653
Osteolysis Syndrome, Recessive
Hypoplasia of the maxilla OMIM:259610
Dislocation Of The Hip-Dysmorphism Syndrome
Malar flattening, Wide nasal bridge, Prominence of the premaxilla ORPHA:2412
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Mandibular prognathia, Hypoplasia of the maxilla OMIM:601216
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia OMIM:227810
Mandibulofacial Dysostosis With Alopecia
Micrognathia, Hypoplasia of the maxilla, Trismus, Delayed eruption of primary teeth, Wide nasal b... OMIM:616367
Metaphyseal Chondrodysplasia, Jansen Type
Micrognathia, Hypophosphatemia, Hypercalcemia OMIM:156400
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Delayed eruption of teeth, Enamel hypoplasia, Hypocalcemic seizures ORPHA:289157
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Retrognathia, Micrognathia, Persistence of hemoglobin F, Macro... OMIM:612561
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Malan Syndrome
Retrognathia, Advanced eruption of teeth, Short nose, Hyperplasia of the premaxilla, Mandibular p... OMIM:614753
Cystinosis
Hypophosphatemia, Hypokalemia ORPHA:213
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Hype... ORPHA:231226
Beta-Thalassemia Major
Decreased mean corpuscular volume, Anemia of inadequate production, Splenomegaly, Extramedullary ... ORPHA:231214
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration, ... OMIM:614886
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:397973
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Hypophosphatemia OMIM:241530
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, Hypoplasia of the maxilla, Wide nasal bridge OMIM:218000
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla OMIM:156510
Frontonasal Dysplasia 1
Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Wide nasal bridge OMIM:136760
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Maternal di... OMIM:604367
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93945
Raine Syndrome
Hypophosphatemia, Malar flattening, Micrognathia, Enamel hypoplasia, Short nose, Natal tooth, Man... OMIM:259775
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hypouricemia OMIM:616026
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla OMIM:300676
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, Micrognathia, Leukopenia, Hypoplasia of the m... OMIM:216550
Multicentric Carpotarsal Osteolysis Syndrome
Micrognathia, Hypoplasia of the maxilla OMIM:166300
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Cleft Lip/Palate
Dental malocclusion, Agenesis of lateral incisor, Abnormality of dental eruption, Hypoplasia of t... ORPHA:199306
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Mandibulofacial Dysostosis-Microcephaly Syndrome
Micrognathia, Short nose, Hypoplasia of the maxilla, Malar flattening ORPHA:79113
Hypomandibular Faciocranial Dysostosis
Micrognathia, Hypoplasia of the maxilla, Malar flattening OMIM:241310
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Hypoplasia of the maxilla OMIM:618737
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Fibrous Dysplasia Of Bone
Hypophosphatemia, Abnormal facial skeleton morphology, Abnormal mandible morphology, Abnormal zyg... ORPHA:249
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... ORPHA:552
Wolcott-Rallison Syndrome
Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Hypon... ORPHA:1667
Aarskog-Scott Syndrome
Hypoplasia of the maxilla, Delayed eruption of teeth, Wide nasal bridge ORPHA:915
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Prominent frontal sinuses, Persistence of primary teeth, Malar flattening, Short man... OMIM:170390
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Macrodontia of permanent maxillary central incisor, Long nose, Micrognathia,... OMIM:257850
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:1540
Pde4D Haploinsufficiency Syndrome
Malar flattening, Micrognathia, Short nose, Hypoplasia of the maxilla, Mandibular prognathia, Abn... ORPHA:439822
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla ORPHA:85279
Acrodysostosis
Delayed eruption of teeth, Short nose, Hypoplasia of the maxilla, Mandibular prognathia, Wide nas... ORPHA:950
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Mccune-Albright Syndrome
Dental malocclusion, Hypophosphatemia, Abnormal facial skeleton morphology, Pancytopenia ORPHA:562
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Wide nasal bridge OMIM:167730
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Lowry-Maclean Syndrome
Retrognathia, Micrognathia, Short nose, Hypoplasia of the maxilla, Talon cusp, Delayed eruption o... ORPHA:2409
Lipodystrophy, Generalized, With Mental Retardation, 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
Microcephaly-Capillary Malformation Syndrome
Short nose, Hypoplasia of the maxilla OMIM:614261
Lujan-Fryns Syndrome
Micrognathia, Hypoplasia of the maxilla ORPHA:776
Premature Aging Syndrome, Penttinen Type
Micrognathia, Hypoplasia of the maxilla, Delayed eruption of teeth OMIM:601812
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Neutropenia, Splenomegaly, Anemia, H... ORPHA:699
Hereditary Fructose Intolerance
Hypophosphatemia, Hyperuricemia, Hypermagnesemia ORPHA:469
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Anemia ORPHA:514
Opsismodysplasia
Short nose, Hypophosphatemia OMIM:258480
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Retrognathia, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemoglobin, ... OMIM:141750
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... ORPHA:411634
Alport Syndrome 3, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase, Transient hypophosphatemia... ORPHA:79102
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Hypophosphatemic Rickets
Hypophosphatemia, Periapical tooth abscess, Craniofacial asymmetry, Odontodysplasia, Craniofacial... ORPHA:437
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Splenomegaly, Delayed eruption of teeth, Anemia ORPHA:667
Dent Disease 1
Hypophosphatemia OMIM:300009
Marshall Syndrome
Malar flattening, Micrognathia, Hypoplasia of the zygomatic bone, Hypoplastic frontal sinuses, Sh... ORPHA:560
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Hypoplasia of the maxilla ORPHA:293939
Keipert Syndrome
Hypoplasia of the maxilla ORPHA:2662
Pycnodysostosis
Obtuse angle of mandible, Dental malocclusion, Persistence of primary teeth, Micrognathia, Hepato... ORPHA:763
Lead Poisoning
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Delayed eruptio... ORPHA:330015
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Atelosteogenesis, Type Iii
Micrognathia, Hypoplasia of the maxilla, Malar flattening OMIM:108721
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Lymphocytosis, Iron deficiency anemia, Thr... OMIM:301074
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypoplasia of the maxilla, Wide nasal bridge OMIM:601499
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypokalemia, Taurodontia, Hypoammonemia, Micrognathia, Delayed eruption of teet... ORPHA:534
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Histiocytosis, Lymphocytosis, Hemophagocytosis, Spl... ORPHA:2442
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, Abnormal dentin morphology, Hypophosphatemia, Odontodysplasia ORPHA:89936
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia ORPHA:411629
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Wide nasal bridge ORPHA:782
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia, Mandibular pain ORPHA:99880
Crouzon Syndrome
Hypoplasia of the maxilla ORPHA:207
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Abn... ORPHA:2298
8Q22.1 Microdeletion Syndrome
Hypoplasia of the maxilla, Wide nasal bridge ORPHA:178303
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Bicarbonatur... ORPHA:3337
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia, Mandibular pain ORPHA:143
Autosomal Recessive Hypophosphatemic Rickets
Tooth abscess, Hypophosphatemic rickets, Delayed eruption of teeth, Renal hypophosphatemia ORPHA:289176
Nablus Mask-Like Facial Syndrome
Retrognathia, Short nose, Hypoplasia of the maxilla, Wide nasal bridge OMIM:608156
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Hypoplasia of the maxilla ORPHA:228396
Kagami-Ogata Syndrome
Retrognathia, Micrognathia, Hypoplasia of the maxilla, Splenomegaly OMIM:608149
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Micrognathia, Leukop... ORPHA:124
Immunodeficiency 92
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... OMIM:619652
Pfeiffer Syndrome
Mandibular prognathia, Short nose, Hypoplasia of the maxilla OMIM:101600
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Short nose, Hypoplasia of the maxilla, Talon cusp ORPHA:363417
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Type I diabetes mellitus ORPHA:3044
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Carpenter Syndrome 1
Persistence of primary teeth, Malar flattening, Micrognathia, Hypoplasia of the maxilla, Polysplenia OMIM:201000
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Malar flattening, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Short nose, ... OMIM:301040
Subaortic Stenosis--Short Stature Syndrome
Short nose, Malar flattening, Hypoplasia of the maxilla, Wide nasal bridge OMIM:271960
Dent Disease
Elevated circulating creatine kinase concentration, Renal hypophosphatemia ORPHA:1652
Cystinosis, Nephropathic
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Splenomegaly, Decreased ... OMIM:219800
Van Maldergem Syndrome 2
Dental malocclusion, Malar flattening, Micrognathia, Hypoplasia of the maxilla, Wide nasal bridge OMIM:615546
Aarskog-Scott Syndrome
Short nose, Hypoplasia of the maxilla, Wide nasal bridge OMIM:305400
Nager Syndrome
Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone ORPHA:245
Van Maldergem Syndrome 1
Dental malocclusion, Malar flattening, Micrognathia, Hypoplasia of the maxilla, Wide nasal bridge OMIM:601390
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Long nose, Micrognathia, Hypoplasia of the maxilla OMIM:309520
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Acute myeloid leukemia ORPHA:86843
Andersen-Tawil Syndrome
Persistence of primary teeth, Micrognathia, Wide nasal bridge, Hypoplasia of the maxilla, Abnorma... ORPHA:37553
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Persistence of primary teeth OMIM:619769
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microretrognathia ORPHA:1307
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla OMIM:619142
Dysostosis, Stanescu Type
Hypoplasia of the zygomatic bone, Hypoplasia of the maxilla, Abnormal dental enamel morphology, C... ORPHA:1798
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... ORPHA:911
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla, Wide nasal bridge OMIM:106260
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla OMIM:300534
Cowden Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Lymphopenia OMIM:158350
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Fructose Intolerance, Hereditary
Bicarbonaturia, Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia OMIM:229600
Dend Syndrome
Elevated hemoglobin A1c, Short nose, Hyperglycemia ORPHA:79134
Angelman Syndrome
Mandibular prognathia, Hypoplasia of the maxilla OMIM:105830
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Hypoplasia of the maxilla, Delayed eruption of teeth, Advanced eruptio... ORPHA:192
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Micrognathia, Hypoplasia of the maxilla, Aplastic zygomatic arch OMIM:616462
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla ORPHA:481152
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Crouzon Syndrome
Mandibular prognathia, Hypoplasia of the maxilla OMIM:123500
Cohen Syndrome
Micrognathia, Neutropenia, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone ORPHA:193
Meier-Gorlin Syndrome 4
Micrognathia, Hypoplasia of the maxilla OMIM:613804
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... OMIM:260400
Brachytelephalangic Chondrodysplasia Punctata
Short nose, Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine ORPHA:79345
Treacher-Collins Syndrome
Malar flattening, Retrognathia, Micrognathia, Hypoplasia of the thymus, Wide nasal bridge, Hypopl... ORPHA:861
Cerebrofacioarticular Syndrome
Micrognathia, Hypoplasia of the maxilla, Wide nasal bridge ORPHA:314679
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Hypoplasia of the maxilla OMIM:211370
Mohr Syndrome
Micrognathia, Agenesis of central incisor, Hypoplasia of the maxilla, Malar flattening OMIM:252100
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Geroderma Osteodysplasticum
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening OMIM:231070
Cowden Syndrome 5
Micrognathia, Hypoplasia of the maxilla OMIM:615108
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... ORPHA:3261
Martsolf Syndrome 1
Micrognathia, Hypoplasia of the maxilla OMIM:212720
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Mandibular condyle hypoplasia, Micrognathia ORPHA:2975
Cowden Syndrome 6
Micrognathia, Hypoplasia of the maxilla OMIM:615109
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis ORPHA:79456
Dyskeratosis Congenita
Taurodontia, Splenomegaly, Carious teeth, Abnormality of neutrophils, Hypoplasia of the maxilla, ... ORPHA:1775
Elsahy-Waters Syndrome
Dental malocclusion, Supernumerary tooth, Malar flattening, Impacted tooth, Delayed eruption of t... OMIM:211380
Craniolenticulosutural Dysplasia
Hypoplasia of teeth, Hypoplasia of the maxilla, Delayed eruption of teeth, Carious teeth ORPHA:50814
Goldberg-Shprintzen Syndrome
Hypoplasia of the maxilla, Wide nasal bridge OMIM:609460
Apert Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Delayed eruption of teeth ORPHA:87
3Mc Syndrome 2
Wide nasal bridge, Prominence of the premaxilla OMIM:265050
Meier-Gorlin Syndrome 5
Micrognathia, Hypoplasia of the maxilla OMIM:613805
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla ORPHA:2095
Marshall-Smith Syndrome
Microretrognathia, Short mandibular rami, Retrognathia, Prominence of the premaxilla, Short nose OMIM:602535
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Micrognathia, Recurrent sinusitis, Short nose, Hypoplasia of the maxilla, Wide nasal bridge OMIM:213980
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Frontorhiny
Hypoplastic frontal sinuses, Hypoplasia of the maxilla ORPHA:391474
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla ORPHA:2399
Rapp-Hodgkin Syndrome
Hypoplasia of the maxilla OMIM:129400
Shprintzen-Goldberg Craniosynostosis Syndrome
Dental malocclusion, Micrognathia, Hypoplasia of the maxilla OMIM:182212
Meier-Gorlin Syndrome 3
Micrognathia, Hypoplasia of the maxilla, Microretrognathia OMIM:613803
Multicentric Osteolysis, Nodulosis, And Arthropathy
Micrognathia, Hypoplasia of the maxilla, Delayed eruption of teeth OMIM:259600
Shprintzen-Goldberg Syndrome
Retrognathia, Micrognathia, Hypoplasia of the maxilla ORPHA:2462
Kikuchi-Fujimoto Disease
Elevated circulating C-reactive protein concentration, Lymphocytosis, Splenomegaly, Leukopenia, N... ORPHA:50918
Barber-Say Syndrome
Dental malocclusion, Micrognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Mandibul... OMIM:209885
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Hypoplasia of the maxilla ORPHA:238468
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the maxilla, Hypoplasia of the frontal bone, Wide nasal bridge, Aplasia/Hypoplasia ... ORPHA:306542
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, ... OMIM:619991
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla ORPHA:794
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Short nose, Taurodontia, Hypoplasia of the maxilla OMIM:305100
Greenberg Dysplasia
Retrognathia, Micrognathia, Hepatosplenomegaly, Hypoplasia of the maxilla OMIM:215140
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Craniofacial hyperostosis ORPHA:2588
Rubinstein-Taybi Syndrome 1
Dental malocclusion, Retrognathia, Micrognathia, Accessory spleen, Enamel hypoplasia, Hypoplasia ... OMIM:180849
Van Den Ende-Gupta Syndrome
Micrognathia, Hypoplasia of the maxilla, Malar flattening OMIM:600920
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:1101
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Ear-Patella-Short Stature Syndrome
Retrognathia, Micrognathia, Hypoplasia of the maxilla, Mandibular aplasia ORPHA:2554
Holoprosencephaly 9
Hypoplasia of the premaxilla, Dental malocclusion, Malar flattening, Hypoplasia of the maxilla, A... OMIM:610829
Bartsocas-Papas Syndrome 1
Micrognathia, Short nose, Hypoplasia of the maxilla OMIM:263650
Distal Monosomy 19P13.3
Hypoplasia of the maxilla ORPHA:96129
Meier-Gorlin Syndrome 1
Micrognathia, Hypoplasia of the maxilla OMIM:224690
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla OMIM:277600
Stickler Syndrome
Malar flattening, Micrognathia, Advanced eruption of teeth, Short nose, Hypoplasia of the maxilla... ORPHA:828
Branchioskeletogenital Syndrome
Mandibular prognathia, Abnormal dentin morphology, Hypoplasia of the maxilla, Carious teeth ORPHA:1299
Zttk Syndrome
Short nose, Hypoplasia of the maxilla, Wide nasal bridge OMIM:617140
Aarskog Syndrome, Autosomal Dominant
Hypoplasia of the maxilla, Wide nasal bridge, Macrocytic anemia OMIM:100050
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Retrognathia, Micrognathia, Hepatosplenomegaly, Hypoplasia of the maxilla, Mandibular prognathia,... ORPHA:96334
Aicardi Syndrome
Prominence of the premaxilla ORPHA:50
Aicardi Syndrome
Prominence of the premaxilla OMIM:304050
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla OMIM:608328
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening OMIM:139210
Cutis Laxa, Autosomal Recessive, Type Ib
Micrognathia, Prominence of the premaxilla OMIM:614437
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla ORPHA:1106
Saethre-Chotzen Syndrome
Long nose, Malar flattening, Hypoplasia of the maxilla, Cleft of chin OMIM:101400
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone ORPHA:920
Primrose Syndrome
Glucose intolerance, Malar flattening, Elevated alpha-fetoprotein, Increased size of the mandible... OMIM:259050
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla, Wide nasal bridge OMIM:180500
Floating-Harbor Syndrome
Long nose, Hypoplasia of the maxilla, Persistence of primary teeth, Carious teeth ORPHA:2044
Craniosynostosis And Dental Anomalies
Dental malocclusion, Supernumerary tooth, Delayed eruption of teeth, Hypoplasia of the maxilla, M... OMIM:614188
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplasia of the maxilla, Malar flattening, Carious teeth OMIM:604292
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hypoplasia of the maxilla, Malar flattening, Carious teeth OMIM:129900
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Short nose, Hypoplasia of the maxilla, Wide nasal bridge ORPHA:500150
Peters-Plus Syndrome
Agenesis of maxillary lateral incisor, Conical incisor, Micrognathia, Hypoplasia of the maxilla OMIM:261540
Singleton-Merten Syndrome 1
Hypoplasia of the tooth germ, Eruption failure, Hypoplasia of the maxilla, Carious teeth OMIM:182250
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla OMIM:300106
Craniofacial Microsomia
Micrognathia, Maxillozygomatic hypoplasia, Hypoplasia of the maxilla, Malar flattening OMIM:164210
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 9 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
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Daam2tm1a(KOMP)Wtsi