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Gene: Daam2 MGI:1923691

Gene Summary

Name:

dishevelled associated activator of morphogenesis 2

Synonyms:

2310016D11Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
increased circulating alanine transaminase level	Daam2^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.85×10^-13
increased hemoglobin content	Daam2^{tm1b(KOMP)Wtsi}	HOM	Early adult	7.70×10^-05
abnormal maxilla morphology	Daam2^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.43×10^-08
abnormal snout morphology	Daam2^{tm1b(KOMP)Wtsi}	HOM	Early adult	4.33×10^-10
increased circulating phosphate level	Daam2^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.87×10^-07
abnormal cranium morphology	Daam2^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.96×10^-09
abnormal snout morphology	Daam2^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.70×10^-10
increased circulating aspartate transaminase level	Daam2^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.40×10^-06
increased circulating amylase level	Daam2^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.96×10^-06
increased fasting circulating glucose level	Daam2^{tm1a(KOMP)Wtsi}	HOM	Early adult	5.20×10^-05
increased large unstained cell number	Daam2^{tm1b(KOMP)Wtsi}	HOM	Early adult	8.43×10^-05
decreased body length	Daam2^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.23×10^-08
increased circulating alkaline phosphatase level	Daam2^{tm1a(KOMP)Wtsi}	HOM	Early adult	6.45×10^-06
abnormal maxilla morphology	Daam2^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.28×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

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.

Images	Zygosity	Mutant Expr
N/A	heterozygote	0.0% (0 of 2)
N/A	homozygote	100% (2 of 2)
N/A	heterozygote	0.0% (0 of 2)
N/A	homozygote	Not available
N/A	heterozygote	100% (2 of 2)
N/A	homozygote	100% (2 of 2)
N/A	heterozygote	50% (1 of 2)
N/A	homozygote	100% (2 of 2)
N/A	heterozygote	50% (1 of 2)
N/A	homozygote	50% (1 of 2)
N/A	heterozygote	0.0% (0 of 2)
N/A	homozygote	50% (1 of 2)
N/A	heterozygote	100% (2 of 2)
N/A	homozygote	100% (2 of 2)
N/A	heterozygote	50% (1 of 2)
N/A	homozygote	50% (1 of 2)
N/A	heterozygote	100% (2 of 2)
N/A	homozygote	100% (2 of 2)
N/A	heterozygote	50% (1 of 2)
N/A	homozygote	50% (1 of 2)
N/A	heterozygote	0.0% (0 of 2)
N/A	homozygote	100% (2 of 2)
N/A	heterozygote	100% (2 of 2)
N/A	homozygote	100% (2 of 2)
N/A	heterozygote	50% (1 of 2)
N/A	homozygote	50% (1 of 2)
N/A	heterozygote	50% (1 of 2)
N/A	homozygote	50% (1 of 2)
N/A	heterozygote	50% (1 of 2)
N/A	homozygote	50% (1 of 2)
N/A	heterozygote	50% (1 of 2)
N/A	homozygote	50% (1 of 2)
N/A	heterozygote	0.0% (0 of 2)
N/A	homozygote	50% (1 of 2)
N/A	heterozygote	50% (1 of 2)
N/A	homozygote	0.0% (0 of 2)
N/A	heterozygote	0.0% (0 of 2)
N/A	homozygote	50% (1 of 2)
N/A	heterozygote	50% (1 of 2)
N/A	homozygote	50% (1 of 2)
N/A	heterozygote	100% (2 of 2)
N/A	homozygote	100% (2 of 2)

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.68% (4 of 584)
aorta	0.17% (1 of 584)
bone	0.0%
brain	0.68% (4 of 584)
brainstem	0.34% (2 of 584)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 584)
cerebellum	0.51% (3 of 584)
cerebral cortex	0.34% (2 of 584)
esophagus	1.72% (7 of 408)
eye	0.0%
gall bladder	0.0%
heart	0.34% (2 of 584)
hippocampus	0.51% (3 of 584)
hypothalamus	0.34% (2 of 584)
kidney	3.6% (21 of 584)
large intestine	1.71% (10 of 584)
liver	0.0%
lower urinary tract	0.17% (1 of 584)
lung	0.34% (2 of 584)
lymph node	0.17% (1 of 584)
mammary gland	0.0%
olfactory lobe	0.34% (2 of 584)
oral epithelium	0.0%
ovary	0.17% (1 of 584)
oviduct	0.0%
pancreas	0.86% (5 of 584)
parathyroid gland	0.18% (1 of 562)
peripheral nervous system	0.34% (2 of 584)
peyers patch	0.0%
pituitary gland	0.17% (1 of 584)
prostate gland	2.05% (12 of 584)
skeletal muscle	0.0%
skin	0.17% (1 of 584)
small intestine	1.54% (9 of 584)
spinal cord	0.51% (3 of 584)
spleen	0.51% (3 of 584)
stomach	2.05% (12 of 584)
striatum	0.51% (3 of 584)
testis	1.03% (6 of 584)
thymus	0.17% (1 of 584)
thyroid gland	2.74% (16 of 584)
trachea	0.51% (3 of 584)
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	1.18% (6 of 507)
ear	0.2% (1 of 507)
embryo	0.2% (1 of 508)
eye	0.2% (1 of 507)
footplate	0.2% (1 of 507)
forebrain	0.2% (1 of 507)
forelimb	0.2% (1 of 507)
handplate	0.2% (1 of 507)
head	0.99% (5 of 507)
heart	0.2% (1 of 507)
hindbrain	1.18% (6 of 507)
hindlimb	0.2% (1 of 507)
liver	0.2% (1 of 502)
lung	0.2% (1 of 502)
mandibular process	0.2% (1 of 507)
maxillary process	0.2% (1 of 507)
midbrain	0.2% (1 of 507)
oral cavity	0.2% (1 of 502)
skin	0.2% (1 of 507)
tail	0.2% (1 of 507)
tail somite group	0.2% (1 of 507)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

25 Images

View images

Adult LacZ

LacZ Images Wholemount

18 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

25 Images

View images

X-ray

XRay Images Skull Lateral Orientation

14 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

25 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

X-ray

XRay Images Forepaw

14 Images

View images

Auditory Brain Stem Response

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

4 Images

View images

Legacy Phenotype Associated Images

Daam2^{tm1a(KOMP)Wtsi}
HOM, Male, WTSI

Daam2^{tm1a(KOMP)Wtsi}
HOM, Female, WTSI

Daam2^{tm1a(KOMP)Wtsi}
HOM, Male, WTSI

View all 70 images

Daam2^{tm1a(KOMP)Wtsi}
primary motor cortex, decreased primary motor cortex size, HOM, Male, WTSI

Daam2^{tm1a(KOMP)Wtsi}
HOM, Male, WTSI

Daam2^{tm1a(KOMP)Wtsi}
primary motor cortex, decreased primary motor cortex size, HOM, Male, WTSI

View all 9 images

Daam2^{tm1a(KOMP)Wtsi}
abnormal cornea morphology, HOM, Female, WTSI

Daam2^{tm1a(KOMP)Wtsi}
abnormal retinal pigmentation, HOM, Female, WTSI

Daam2^{tm1a(KOMP)Wtsi}
abnormal cornea morphology, HOM, Female, WTSI

Daam2^{tm1a(KOMP)Wtsi}
abnormal retinal blood vessel morphology, HOM, Male, WTSI

Daam2^{tm1a(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.

Human diseases associated with Daam2 (2 diseases)
Human diseases predicted to be associated with Daam2 (316 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Idiopathic Steroid-Resistant Nephrotic Syndrome		Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra...	ORPHA:567548
Nephrotic Syndrome, Type 24			OMIM:619263

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

Disease	Matching phenotypes	Source
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Pentosuria	Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration	ORPHA:2843
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Malignant Hyperthermia, Susceptibility To, 2	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia	OMIM:154275
Malignant Hyperthermia, Susceptibility To, 3	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia	OMIM:154276
Pseudohypoparathyroidism Type 2	Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia	ORPHA:94090
Hyperphosphatasia With Mental Retardation Syndrome 3	Short nose, Hyperphosphatemia, Wide nasal bridge	OMIM:614207
Malignant Hyperthermia, Susceptibility To, 1	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia	OMIM:145600
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Hyperphosphatemia	OMIM:146200
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:2239
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia	OMIM:603233
Hyperphosphatemia, Polyuria, And Seizures	Hyperphosphatemia	OMIM:239350
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Enamel hypoplasia, Pulp calcification, Taurodontia, Calcinosis, Hyperphosphatemia	OMIM:211900
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Calvarial osteosclerosis, Hypercalcemia, Hyperphosphatemia	OMIM:617994
Pseudohypoparathyroidism, Type Ic	Enamel hypoplasia, Delayed eruption of teeth, Hyperphosphatemia, Hypocalcemic tetany	OMIM:612462
Pseudohypoparathyroidism Type 1B	Enamel hypoplasia, Delayed eruption of teeth, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemi...	ORPHA:94089
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly	OMIM:613978
Pseudohypoparathyroidism, Type Ia	Enamel hypoplasia, Delayed eruption of teeth, Hyperphosphatemia, Hypocalcemic tetany	OMIM:103580
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Micrognathia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:241410
Hypophosphatemia, Renal, With Intracerebral Calcifications	Renal hypophosphatemia	OMIM:241519
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:36913
Refractory Celiac Disease	Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Microcytic anemia, Incre...	ORPHA:398063
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly	ORPHA:231393
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Persistence of hemoglobin F, Splenomegaly	ORPHA:46532
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Craniofacial-Deafness-Hand Syndrome	Malar flattening, Short nose, Hypoplasia of the maxilla	OMIM:122880
Neuroleptic Malignant Syndrome	Hypocalcemia, Thrombocytosis, Leukocytosis, Hypernatremia, Hyponatremia, Hyperuricemia, Elevated ...	ORPHA:94093
Sanjad-Sakati Syndrome	Hypocalcemia, Abnormal dental enamel morphology, Micrognathia, Hyperphosphatemia	ORPHA:2323
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hypocalcemia, Tooth abscess, Hypophosphatemia	ORPHA:89937
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase...	ORPHA:766
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemia, Hypophosphatemic rickets	OMIM:241520
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Hypocalcemic tetany, Persistence of primary teeth, Anemia, Calvarial osteosclerosi...	ORPHA:93325
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hyperuricemia, Hydroxyprolinemia	OMIM:239000
Kenny-Caffey Syndrome, Type 2	Hypocalcemia, Transient hypophosphatemia, Hyperphosphatemia, Anemia	OMIM:127000
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Dent Disease 2	Hypophosphatemia, Elevated circulating creatine kinase concentration	OMIM:300555
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Sickle Cell Anemia	Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a...	ORPHA:232
Acrodysostosis 1 With Or Without Hormone Resistance	Delayed eruption of teeth, Mandibular prognathia, Dental malocclusion, Hyperphosphatemia, Hypopla...	OMIM:101800
Maturity-Onset Diabetes Of The Young, Type 10	Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis	OMIM:613370
Hemifacial Hyperplasia	Dental malocclusion, Hypoplasia of the maxilla	OMIM:133900
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus	OMIM:600496
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia	ORPHA:423
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Pseudohypoparathyroidism Type 1C	Enamel hypoplasia, Delayed eruption of teeth, Hypocalcemia, Hypocalcemic tetany, Calcinosis, Hype...	ORPHA:79444
Beta-Thalassemia	Abnormality of iron homeostasis, Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Abnor...	ORPHA:848
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Hyperphosphatemia	ORPHA:457059
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Alpha-Thalassemia Myelodysplasia Syndrome	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:300448
Alpha-Thalassemia	Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin	ORPHA:846
Hypomandibular Faciocranial Dysostosis	Micrognathia, Malar flattening, Hypoplasia of the maxilla	OMIM:241310
Autosomal Dominant Hypocalcemia	Hypomagnesemia, Hypocalcemia, Hyperphosphatemia	ORPHA:428
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia	ORPHA:231401
Pseudohypoparathyroidism Type 1A	Enamel hypoplasia, Delayed eruption of teeth, Hypocalcemia, Hypocalcemic tetany, Calcinosis, Hype...	ORPHA:79443
Acrodysostosis With Multiple Hormone Resistance	Hypocalcemia, Hypoplasia of the nasal bone, Absent/hypoplastic paranasal sinuses, Mandibular prog...	ORPHA:280651
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Thrombocytopenia, Elevated circulating creatine kinase concentration, Hyperkalemia,...	ORPHA:466650
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Diabetic ketoacidosis...	OMIM:618858
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia	ORPHA:99879
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope...	OMIM:614470
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Hypophosphatemic rickets	OMIM:618913
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide level	ORPHA:157215
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Mandibular prognathia, Hypogl...	OMIM:262190
Colchicine Poisoning	Hypophosphatemia, Hypocalcemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hyp...	ORPHA:31824
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis, Neutropenia, Anemia, Increased mea...	OMIM:618849
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Maxillonasal Dysplasia	Mandibular prognathia, Short nose, Hypoplasia of the maxilla	ORPHA:1248
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Diabetes Mellitus, Permanent Neonatal, 2	Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level	OMIM:618856
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Malar flattening, Maxillozygomatic hypoplasia	ORPHA:2972
Diabetes Mellitus, Permanent Neonatal, 1	Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hyperglycemia, Diabet...	OMIM:606176
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Hyperparathyroidism, Neonatal Severe	Hypophosphatemia, Calcinosis, Hypercalcemia, Anemia, Splenomegaly	OMIM:239200
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly	OMIM:606445
Fanconi Renotubular Syndrome 1	Hypophosphatemia, Hypokalemia	OMIM:134600
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Vitamin D-Dependent Rickets, Type 2A	Enamel hypoplasia, Delayed eruption of teeth, Carious teeth, Hypophosphatemia, Hypocalcemic seizures	OMIM:277440
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism	Hypoplasia of the maxilla	OMIM:608432
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemia, Hypophosphatemic rickets, Enamel hypomineralization	OMIM:307800
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, Wide nasal bridge, HbH hemoglobin, Retrognathia, Micrognathia, Malar flattening	ORPHA:98791
20P12.3 Microdeletion Syndrome	Malar flattening, Wide nasal bridge, Hypoplasia of the maxilla	ORPHA:261295
Andersen Cardiodysrhythmic Periodic Paralysis	Enamel hypoplasia, Prominent frontal sinuses, Antegonial notching of mandible, Persistence of pri...	OMIM:170390
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Enamel hypoplasia, Delayed eruption of teeth, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla	OMIM:300676
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hemato...	ORPHA:231222
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia	OMIM:610629
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes	OMIM:610582
Spondylospinal Thoracic Dysostosis	Micrognathia, Hypoplasia of the maxilla	OMIM:601809
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla	OMIM:264270
Craniofacial-Deafness-Hand Syndrome	Short nose, Hypoplasia of the maxilla	ORPHA:1529
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:93950
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla	ORPHA:2776
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla	OMIM:246560
Cleft Velum	Hypoplasia of the maxilla	ORPHA:99772
Osteolysis Syndrome, Recessive	Hypoplasia of the maxilla	OMIM:259610
Fanconi-Bickel Syndrome	Hypophosphatemia, Hypouricemia, Hypokalemia	OMIM:227810
Multicentric Carpotarsal Osteolysis Syndrome	Micrognathia, Hypoplasia of the maxilla	OMIM:166300
Dental Anomalies And Short Stature	Amelogenesis imperfecta, Mandibular prognathia, Hypoplasia of the maxilla	OMIM:601216
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Micrognathia, Hypercalcemia	OMIM:156400
Stickler Syndrome Type 1	Short nose, Hypoplasia of the maxilla	ORPHA:90653
Uremic Pruritus	Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen	ORPHA:94059
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Short nose	OMIM:137550
Hypocalcemic Vitamin D-Dependent Rickets	Enamel hypoplasia, Delayed eruption of teeth, Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:289157
Mandibulofacial Dysostosis With Alopecia	Delayed eruption of primary teeth, Trismus, Wide nasal bridge, Micrognathia, Hypoplasia of the ma...	OMIM:616367
Dominant Beta-Thalassemia	Hypochromic microcytic anemia, Hyperplasia of the maxilla, Abnormality of iron homeostasis, Decre...	ORPHA:231226
Raine Syndrome	Enamel hypoplasia, Hypophosphatemia, Short nose, Mandibular prognathia, Natal tooth, Micrognathia...	OMIM:259775
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Retrognathia, Micrognathia, Macro...	OMIM:612561
Dislocation Of The Hip-Dysmorphism Syndrome	Prominence of the premaxilla, Malar flattening, Wide nasal bridge	ORPHA:2412
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Beta-Thalassemia Major	Hypochromic microcytic anemia, Hyperplasia of the maxilla, Abnormality of iron homeostasis, Decre...	ORPHA:231214
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Short nose, Wide nasal bridge, Hypoplasia of the maxilla	OMIM:218000
Frontonasal Dysplasia 1	Hypoplastic frontal sinuses, Wide nasal bridge, Hypoplasia of the maxilla	OMIM:136760
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla	OMIM:156510
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:397973
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemia, Hypophosphatemic rickets	OMIM:241530
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypophosphatemia	OMIM:600081
Cystinosis	Hypophosphatemia, Hypokalemia	ORPHA:213
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:93160
Fibrous Dysplasia Of Bone	Hypophosphatemia, Abnormality of the sphenoid sinus, Abnormality of facial skeleton, Abnormality ...	ORPHA:249
Opsismodysplasia	Hypophosphatemia, Short nose	OMIM:258480
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum	Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Eruption failure, Maxil...	OMIM:273050
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:93945
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypophosphatemia, Hypermagnesemia, Hypercalcemia	OMIM:600740
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Anemia, Splenomegaly	ORPHA:163596
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemia, Hypophosphatemic rickets	OMIM:300554
Mandibulofacial Dysostosis-Microcephaly Syndrome	Micrognathia, Malar flattening, Short nose, Hypoplasia of the maxilla	ORPHA:79113
Cohen Syndrome	Neutropenia, Macrodontia of permanent maxillary central incisor, Leukopenia, Micrognathia, Hypopl...	OMIM:216550
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures	Hypoplasia of the maxilla	OMIM:618737
Cleft Lip/Palate	Agenesis of lateral incisor, Peg-shaped maxillary lateral incisors, Abnormality of dental eruptio...	ORPHA:199306
Aarskog-Scott Syndrome	Delayed eruption of teeth, Wide nasal bridge, Hypoplasia of the maxilla	ORPHA:915
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb...	ORPHA:169154
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
Oncogenic Osteomalacia	Hypophosphatemia, Hypocalcemia	ORPHA:352540
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Abnormal dental enamel morphology, Hypoplasia of teeth, Long nose, Mac...	OMIM:257850
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation	Hypoplasia of the maxilla	ORPHA:85279
Acrodysostosis	Delayed eruption of teeth, Short nose, Mandibular prognathia, Wide nasal bridge, Hypoplasia of th...	ORPHA:950
Mccune-Albright Syndrome	Abnormality of facial skeleton, Dental malocclusion, Pancytopenia, Hypophosphatemia	ORPHA:562
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyponatremia, Neutropenia, Hypoalbumin...	ORPHA:1667
Jackson-Weiss Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:1540
Pde4D Haploinsufficiency Syndrome	Abnormal dental enamel morphology, Short nose, Mandibular prognathia, Micrognathia, Malar flatten...	ORPHA:439822
Fanconi-Bickel Syndrome	Hypophosphatemia, Hypertriglyceridemia	ORPHA:2088
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nasal bridge, Hypoplasia of the maxilla	OMIM:167730
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla	OMIM:608154
Mody	Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in...	ORPHA:552
Lymphoproliferative Syndrome, X-Linked, 1	Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Sp...	OMIM:308240
Hereditary Fructose Intolerance	Hypophosphatemia, Hypermagnesemia, Hyperuricemia	ORPHA:469
Lujan-Fryns Syndrome	Micrognathia, Hypoplasia of the maxilla	ORPHA:776
Lowry-Maclean Syndrome	Delayed eruption of primary teeth, Talon cusp, Short nose, Retrognathia, Micrognathia, Hypoplasia...	ORPHA:2409
Microcephaly-Capillary Malformation Syndrome	Short nose, Hypoplasia of the maxilla	OMIM:614261
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla	OMIM:601812
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Malar flattening, Hypoplasia of the maxilla	ORPHA:93262
Alport Syndrome 3, Autosomal Dominant	Hypophosphatemia, Azotemia	OMIM:104200
Craniosynostosis And Dental Anomalies	Delayed eruption of teeth, Supernumerary tooth, Hypoplasia of the maxilla	OMIM:614188
Pearson Syndrome	Hypophosphatemia, Hypocalcemia, Reticulocytosis, Neutropenia, Thrombocytopenia, Pancytopenia, Hyp...	ORPHA:699
Acute Monoblastic/Monocytic Leukemia	Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Anemia	ORPHA:514
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related	Hypochromic microcytic anemia, Wide nasal bridge, HbH hemoglobin, Reduced alpha/beta synthesis ra...	OMIM:141750
Dent Disease 1	Hypophosphatemia	OMIM:300009
Juvenile Nephropathic Cystinosis	Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo...	ORPHA:411634
Hypophosphatemic Rickets	Hypophosphatemia, Periapical tooth abscess, Tooth abscess, Craniofacial osteosclerosis, Craniofac...	ORPHA:437
Thyrotoxic Periodic Paralysis	Mildly elevated creatine kinase, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia...	ORPHA:79102
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia, Hypoplasia of the maxilla	ORPHA:293939
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Infantile hypercalcemia, Hypocalcemic sei...	ORPHA:405
Primary Fanconi Renotubular Syndrome	Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Hypophosphatemic rickets, Bicarbonatu...	ORPHA:3337
Marshall Syndrome	Short nose, Hypoplastic frontal sinuses, Wide nasal bridge, Hypoplasia of the zygomatic bone, Mic...	ORPHA:560
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla	OMIM:300534
X-Linked Hypophosphatemia	Hypophosphatemia, Abnormal dentin morphology, Tooth abscess, Odontodysplasia	ORPHA:89936
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Wide nasal bridge, Hypoplasia of the maxilla	OMIM:601499
Atelosteogenesis, Type Iii	Micrognathia, Malar flattening, Hypoplasia of the maxilla	OMIM:108721
Familial Parathyroid Adenoma	Hypophosphatemia, Hypercalcemia	ORPHA:99877
Hyperparathyroidism-Jaw Tumor Syndrome	Infantile hypercalcemia, Mandibular pain, Hypercalcemia, Hypophosphatemia	ORPHA:99880
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Malar flattening, Hypoplasia of the maxilla	OMIM:109120
Oculocerebrorenal Syndrome Of Lowe	Hypophosphatemia, Delayed eruption of teeth, Abnormal dental enamel morphology, Carious teeth, Hy...	ORPHA:534
Acrocephalopolysyndactyly Type Iii	Mandibular prognathia, Malar flattening, Hypoplasia of the maxilla	OMIM:101120
Autosomal Recessive Malignant Osteopetrosis	Hypophosphatemia, Delayed eruption of teeth, Hypocalcemia, Anemia, Splenomegaly	ORPHA:667
X-Linked Lymphoproliferative Disease	Increased proportion of CD25+ mast cells, Lymphocytosis, T lymphocytopenia, Hemophagocytosis, Inc...	ORPHA:2442
Keipert Syndrome	Hypoplasia of the maxilla	ORPHA:2662
Parathyroid Carcinoma	Infantile hypercalcemia, Mandibular pain, Hypercalcemia, Hypophosphatemia	ORPHA:143
Axenfeld-Rieger Syndrome	Wide nasal bridge, Hypoplasia of the maxilla	ORPHA:782
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Tooth abscess, Renal hypophosphatemia, Hypophosphatemic rickets	ORPHA:289176
Crouzon Disease	Hypoplasia of the maxilla	ORPHA:207
Infantile Nephropathic Cystinosis	Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:411629
Primary Parathyroid Hyperplasia	Hypophosphatemia, Hypercalcemia	ORPHA:99878
Blackfan-Diamond Anemia	Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo...	ORPHA:124
Lead Poisoning	Delayed eruption of teeth, Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, D...	ORPHA:330015
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Hypoplasia of the maxilla	ORPHA:228396
Nablus Mask-Like Facial Syndrome	Retrognathia, Short nose, Wide nasal bridge, Hypoplasia of the maxilla	OMIM:608156
Insulin-Resistance Syndrome Type B	Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli...	ORPHA:2298
Kagami-Ogata Syndrome	Splenomegaly, Retrognathia, Micrognathia, Hypoplasia of the maxilla	OMIM:608149
8Q22.1 Microdeletion Syndrome	Wide nasal bridge, Hypoplasia of the maxilla	ORPHA:178303
Temtamy Preaxial Brachydactyly Syndrome	Talon cusp, Micrognathia, Short nose, Hypoplasia of the maxilla	ORPHA:363417
Pfeiffer Syndrome	Mandibular prognathia, Short nose, Hypoplasia of the maxilla	OMIM:101600
Dent Disease	Elevated circulating creatine kinase concentration, Hyperuricosuria, Renal hypophosphatemia	ORPHA:1652
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Long nose, Micrognathia, Hypoplasia of the maxilla	OMIM:309520
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness	Reduced beta/alpha synthesis ratio	OMIM:609057
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked	Hypochromic microcytic anemia, Short nose, HbH hemoglobin, Reduced alpha/beta synthesis ratio, Ab...	OMIM:301040
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Type I diabetes mellitus, Hypoplasia of the maxilla	ORPHA:3044
Subaortic Stenosis--Short Stature Syndrome	Malar flattening, Short nose, Wide nasal bridge, Hypoplasia of the maxilla	OMIM:271960
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Hypoplasia of the maxilla	ORPHA:1307
Nager Syndrome	Micrognathia, Hypoplasia of the zygomatic bone, Hypoplasia of the maxilla	ORPHA:245
Fructose Intolerance, Hereditary	Hypophosphatemia, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hyperuricosuria	OMIM:229600
Van Maldergem Syndrome 2	Wide nasal bridge, Dental malocclusion, Micrognathia, Malar flattening, Hypoplasia of the maxilla	OMIM:615546
Van Maldergem Syndrome 1	Wide nasal bridge, Dental malocclusion, Micrognathia, Malar flattening, Hypoplasia of the maxilla	OMIM:601390
Acute Panmyelosis With Myelofibrosis	Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly	ORPHA:86843
Aarskog-Scott Syndrome	Short nose, Wide nasal bridge, Hypoplasia of the maxilla	OMIM:305400
Dysostosis, Stanescu Type	Carious teeth, Abnormal dental enamel morphology, Hypoplasia of the zygomatic bone, Hypoplasia of...	ORPHA:1798
Carpenter Syndrome 1	Polysplenia, Persistence of primary teeth, Micrognathia, Malar flattening, Hypoplasia of the maxilla	OMIM:201000
Marshall-Smith Syndrome	Prominence of the premaxilla, Short nose, Short mandibular rami, Retrognathia, Malar flattening	OMIM:602535
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm...	ORPHA:911
Cardioacrofacial Dysplasia 1	Hypoplasia of the maxilla	OMIM:619142
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Micrognathia, Hypoplasia of the maxilla	OMIM:616462
Greenberg Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly, Micrognathia, Malar flattening, Abnormal circul...	OMIM:215140
Cowden Syndrome 1	Lymphopenia, Micrognathia, Hypoplasia of the maxilla	OMIM:158350
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla	ORPHA:2399
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Delayed eruption of teeth, Advanced eruption of teeth, Hypoplasia of t...	ORPHA:192
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,...	OMIM:260400
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Meier-Gorlin Syndrome 4	Micrognathia, Hypoplasia of the maxilla	OMIM:613804
Angelman Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	OMIM:105830
Geroderma Osteodysplasticum	Mandibular prognathia, Malar flattening, Hypoplasia of the maxilla	OMIM:231070
Martsolf Syndrome 1	Micrognathia, Hypoplasia of the maxilla	OMIM:212720
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Mandibular condyle hypoplasia	ORPHA:2975
Crouzon Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	OMIM:123500
Cohen Syndrome	Micrognathia, Neutropenia, Hypoplasia of the zygomatic bone, Hypoplasia of the maxilla	ORPHA:193
Treacher-Collins Syndrome	Abnormal dental enamel morphology, Wide nasal bridge, Hypoplasia of the thymus, Hypoplasia of the...	ORPHA:861
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Wide nasal bridge, Hypoplasia of the maxilla	OMIM:106260
Cerebrofacioarticular Syndrome	Micrognathia, Wide nasal bridge, Hypoplasia of the maxilla	ORPHA:314679
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla	ORPHA:481152
Brachytelephalangic Chondrodysplasia Punctata	Hypoplasia of the anterior nasal spine, Short nose, Hypoplasia of the maxilla	ORPHA:79345
Mohr Syndrome	Agenesis of central incisor, Micrognathia, Malar flattening, Hypoplasia of the maxilla	OMIM:252100
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism	Hypoplasia of the maxilla	OMIM:211370
Goldberg-Shprintzen Syndrome	Wide nasal bridge, Hypoplasia of the maxilla	OMIM:609460
Cowden Syndrome 5	Micrognathia, Hypoplasia of the maxilla	OMIM:615108
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Carious teeth, Hypoplasia of teeth, Hypoplasia of the maxilla	ORPHA:50814
Autoimmune Lymphoproliferative Syndrome	Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ...	ORPHA:3261
Cowden Syndrome 6	Micrognathia, Hypoplasia of the maxilla	OMIM:615109
Apert Syndrome	Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:87
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla	OMIM:613805
Dyskeratosis Congenita	Carious teeth, Taurodontia, Abnormality of neutrophils, Thrombocytopenia, Anemia, Splenomegaly, H...	ORPHA:1775
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Elsahy-Waters Syndrome	Delayed eruption of teeth, Mandibular prognathia, Wide nasal bridge, Multiple impacted teeth, Den...	OMIM:211380
3Mc Syndrome 2	Prominence of the premaxilla, Wide nasal bridge	OMIM:265050
Gorlin-Chaudhry-Moss Syndrome	Hypoplasia of the maxilla	ORPHA:2095
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome	Micrognathia, Short nose, Hypoplasia of the maxilla	OMIM:213980
Frontorhiny	Hypoplastic frontal sinuses, Hypoplasia of the maxilla	ORPHA:391474
Meier-Gorlin Syndrome 3	Microretrognathia, Micrognathia, Hypoplasia of the maxilla	OMIM:613803
Rapp-Hodgkin Syndrome	Hypoplasia of the maxilla	OMIM:129400
Multicentric Osteolysis, Nodulosis, And Arthropathy	Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla	OMIM:259600
Shprintzen-Goldberg Craniosynostosis Syndrome	Dental malocclusion, Micrognathia, Hypoplasia of the maxilla	OMIM:182212
Van Den Ende-Gupta Syndrome	Malar flattening, Hypoplasia of the maxilla	OMIM:600920
Shprintzen-Goldberg Syndrome	Retrognathia, Micrognathia, Hypoplasia of the maxilla	ORPHA:2462
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Short nose, Taurodontia, Hypoplasia of the maxilla	OMIM:305100
Hypohidrotic Ectodermal Dysplasia	Hypoplasia of the maxilla, Sinusitis	ORPHA:238468
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Hypoplasia of the frontal bone, Aplasia/Hypoplasia of the frontal sinuses, Wide nasal bridge, Hyp...	ORPHA:306542
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla	ORPHA:794
Kikuchi-Fujimoto Disease	Lymphocytosis, Neutropenia, Thrombocytopenia, Splenomegaly, Elevated circulating C-reactive prote...	ORPHA:50918
Myhre Syndrome	Craniofacial hyperostosis, Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:2588
Ear-Patella-Short Stature Syndrome	Mandibular aplasia, Retrognathia, Micrognathia, Hypoplasia of the maxilla	ORPHA:2554
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:1101
Holoprosencephaly 9	Hypoplasia of the premaxilla, Agenesis of incisor, Dental malocclusion, Malar flattening, Hypopla...	OMIM:610829
Meier-Gorlin Syndrome 1	Micrognathia, Hypoplasia of the maxilla	OMIM:224690
Drug Rash With Eosinophilia And Systemic Symptoms	Lymphocytosis, Eosinophilia	ORPHA:139402
Distal Monosomy 19P13.3	Hypoplasia of the maxilla	ORPHA:96129
Weill-Marchesani Syndrome 1	Hypoplasia of the maxilla	OMIM:277600
Bartsocas-Papas Syndrome 1	Micrognathia, Short nose, Hypoplasia of the maxilla	OMIM:263650
Hemifacial Microsomia	Micrognathia, Malar flattening, Hypoplasia of the maxilla	OMIM:164210
Stickler Syndrome	Abnormal dental enamel morphology, Short nose, Micrognathia, Malar flattening, Advanced eruption ...	ORPHA:828
Zttk Syndrome	Short nose, Wide nasal bridge, Hypoplasia of the maxilla	OMIM:617140
Aarskog Syndrome, Autosomal Dominant	Macrocytic anemia, Wide nasal bridge, Hypoplasia of the maxilla	OMIM:100050
Branchioskeletogenital Syndrome	Carious teeth, Mandibular prognathia, Abnormal dentin morphology, Hypoplasia of the maxilla	ORPHA:1299
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Wide nasal bridge, Retrognathia, Micrognathia, Hepatosplenomegaly, Hypopla...	ORPHA:96334
Aicardi Syndrome	Prominence of the premaxilla	ORPHA:50
Aicardi Syndrome	Prominence of the premaxilla	OMIM:304050
Myhre Syndrome	Mandibular prognathia, Malar flattening, Hypoplasia of the maxilla	OMIM:139210
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla	OMIM:608328
Rubinstein-Taybi Syndrome 1	Enamel hypoplasia, Talon cusp, Dental malocclusion, Wide nasal bridge, Retrognathia, Micrognathia...	OMIM:180849
Microphthalmia With Limb Anomalies	Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla	ORPHA:1106
Saethre-Chotzen Syndrome	Cleft of chin, Long nose, Malar flattening, Hypoplasia of the maxilla	OMIM:101400
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Micrognathia	OMIM:614437
Holoprosencephaly 7	Hypoplasia of the premaxilla, Short nose	OMIM:610828
Ablepharon Macrostomia Syndrome	Hypoplasia of the zygomatic bone, Hypoplasia of the maxilla	ORPHA:920
Floating-Harbor Syndrome	Carious teeth, Long nose, Persistence of primary teeth, Hypoplasia of the maxilla	ORPHA:2044
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Carious teeth, Malar flattening, Hypoplasia of the maxilla	OMIM:604292
Primrose Syndrome	Glucose intolerance, Diabetes mellitus, Increased size of the mandible, Malar flattening, Hypopla...	OMIM:259050
Axenfeld-Rieger Syndrome, Type 1	Wide nasal bridge, Hypoplasia of the maxilla	OMIM:180500
Neurofaciodigitorenal Syndrome	Hypoplasia of the premaxilla, Mandibular prognathia	ORPHA:2673
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Carious teeth, Malar flattening, Hypoplasia of the maxilla	OMIM:129900
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Short nose, Wide nasal bridge, Hypoplasia of the maxilla	ORPHA:500150
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of the premaxilla, Micrognathia	ORPHA:2166
Peters-Plus Syndrome	Conical incisor, Micrognathia, Agenesis of maxillary lateral incisor, Hypoplasia of the maxilla	OMIM:261540
Singleton-Merten Syndrome 1	Carious teeth, Hypoplasia of the tooth germ, Eruption failure, Hypoplasia of the maxilla	OMIM:182250
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra...	ORPHA:567548
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla	OMIM:300106
Nephrotic Syndrome, Type 24		OMIM:619263

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Sex	Life Stage
Brain - developmental and structural abnormality	Daam2^{tm1a(KOMP)Wtsi}	HOM		Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Daam2.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
The Daam2-VHL-Nedd4 axis governs developmental and regenerative oligodendrocyte differentiation.	Genes & development (August 2020)	Daam2^{tm1c(KOMP)Wtsi} Daam2^{tm1a(KOMP)Wtsi}	32792353
An atlas of genetic influences on osteoporosis in humans and mice.	Nature genetics (December 2018)	Daam2^{tm1a(KOMP)Wtsi}	PMC6358485
Daam2 driven degradation of VHL promotes gliomagenesis.	eLife (October 2017)	Daam2^{tm1a(KOMP)Wtsi}	PMC5650470
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Daam2^{tm1a(KOMP)Wtsi}	PMC5827107
Daam2-PIP5K is a regulatory pathway for Wnt signaling and therapeutic target for remyelination in the CNS.	Neuron (March 2015)	Daam2^{tm1a(KOMP)Wtsi}	PMC4402944
Integration of left-right Pitx2 transcription and Wnt signaling drives asymmetric gut morphogenesis via Daam2.	Developmental cell (September 2013)	Daam2^{tm1a(KOMP)Wtsi}	PMC3965270

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MGI Allele	Allele Type	Produced
Daam2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Daam2^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (post-Cre)	Mice

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Gene: Daam2 MGI:1923691

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