banner
Genes Phenotypes Help, News, Blog

Gene: Emb MGI:95321

Log in to follow

Gene Summary

Name:
embigin
Synonyms:
Gp70

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal liver morphology Embtm1b(KOMP)Wtsi HET Early adult 0.00
preweaning lethality, incomplete penetrance Embtm1b(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct 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)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

14 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

14 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

14 Images

View images

Human diseases caused by Emb 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Lethal Congenital Contracture Syndrome 11
Polyhydramnios, Intrauterine growth retardation, Pulmonary hypoplasia OMIM:617194
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis, Pulmonary hypoplasia OMIM:613124
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia, Intrauterine growth retardation, Nonimmune hydrops fetalis, Neonatal death OMIM:619003
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia, Neonatal death OMIM:615228
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Intrauterine growth retardation, Elevated circulating alkaline phosphatase concentration OMIM:616917
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Nphp3-Related Meckel-Like Syndrome
Polyhydramnios, Oligohydramnios, Pulmonary hypoplasia ORPHA:3032
Renal Tubular Dysgenesis
Polyhydramnios, Oligohydramnios, Pulmonary hypoplasia ORPHA:3033
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Intrauterine growth retardation, Oligohydramnios, Pulmonary hypoplasia OMIM:616733
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia, Edema, Neonatal death OMIM:253310
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia, Neonatal death OMIM:245650
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia, Neonatal death OMIM:614096
Glycosylphosphatidylinositol Biosynthesis Defect 16
Elevated circulating alkaline phosphatase concentration OMIM:617816
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Low alkaline phosphatase, Elevated circulating alkaline phosphatase concentration OMIM:618879
Microphthalmia, Syndromic 12
Pulmonary hypoplasia, Neonatal death OMIM:615524
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase OMIM:242880
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase OMIM:162830
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Congenital Disorder Of Glycosylation, Type Iij
Recurrent respiratory infections, Hepatic failure, Elevated circulating hepatic transaminase conc... OMIM:613489
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas... OMIM:616829
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Cog4-Cdg
Recurrent upper respiratory tract infections, Elevated circulating hepatic transaminase concentra... ORPHA:263501
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Pulmonary hypoplasia OMIM:618174
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Elevated circulating alkaline phosphatase concentration OMIM:174050
Hypophosphatasia, Childhood
Low alkaline phosphatase, Short stature OMIM:241510
Cholestasis-Lymphedema Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ... OMIM:214900
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Elevated circulating alkaline phosphatase concentration ORPHA:329475
Achondrogenesis Type 2
Short stature, Edema, Pulmonary hypoplasia ORPHA:93296
Osteosclerotic Metaphyseal Dysplasia
Elevated circulating alkaline phosphatase concentration OMIM:615198
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:620375
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Polyhydramnios, Growth delay, Elevated circulating alkaline phosphatase concentration OMIM:616809
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia, Stillbirth OMIM:617468
Craniodiaphyseal Dysplasia, Autosomal Dominant
Short stature, Elevated circulating alkaline phosphatase concentration OMIM:122860
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Hypophosphatasia, Infantile
Disproportionate short-limb short stature, Low alkaline phosphatase, Stillbirth, Polyhydramnios, ... OMIM:241500
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Polyhydramnios, Pulmonary hypoplasia OMIM:616867
Thanatophoric Dysplasia
Disproportionate short-limb short stature, Intrauterine growth retardation, Increased nuchal tran... ORPHA:2655
Multiple Pterygium Syndrome, X-Linked
Polyhydramnios, Intrauterine growth retardation, Edema, Pulmonary hypoplasia OMIM:312150
Lethal Congenital Contracture Syndrome Type 1
Short stature, Polyhydramnios, Pulmonary hypoplasia ORPHA:1486
Wild Type Attr Amyloidosis
Pleural effusion, Elevated circulating alkaline phosphatase concentration, Pulmonary edema, Abnor... ORPHA:330001
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... OMIM:619658
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Congenital Myopathy 1B, Autosomal Recessive
Polyhydramnios, Recurrent respiratory infections, Hydrops fetalis, Pulmonary hypoplasia OMIM:255320
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Intrauterine growth retardation, Bilateral lung agenesi... OMIM:611812
Multiple Pterygium Syndrome, Lethal Type
Polyhydramnios, Intrauterine growth retardation, Edema, Pulmonary hypoplasia OMIM:253290
Serkal Syndrome
Oligohydramnios, Growth delay, Pulmonary hypoplasia ORPHA:139466
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Pulmonary hypoplasia, Oligohydramnios, Stillbirth, Neonatal death OMIM:236500
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration OMIM:606263
Tafro Syndrome
Increased circulating lactate dehydrogenase concentration, Anasarca, Ascites, Pleural effusion, E... ORPHA:457077
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Decreased liver function, Ele... OMIM:617093
Osteosarcoma
Abnormal circulating lactate dehydrogenase concentration, Increased circulating lactate dehydroge... ORPHA:668
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Intrauterine growth retardation, Pneumothorax, Recurrent re... ORPHA:2257
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Facial edema, Intrauterine growth retardation, Polyhydramnios, Pulmonary hypoplasia ORPHA:86822
Fetal Akinesia Deformation Sequence
Polyhydramnios, Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:994
Myeloproliferative Disease, Autosomal Recessive
Reduced leukocyte alkaline phosphatase OMIM:254700
Atelosteogenesis, Type Ii
Pulmonary hypoplasia, Stillbirth OMIM:256050
Cystic Echinococcosis
Elevated gamma-glutamyltransferase level, Pulmonary cyst, Elevated circulating hepatic transamina... ORPHA:400
Vitamin D-Dependent Rickets, Type 3
Growth delay, Elevated circulating alkaline phosphatase concentration OMIM:619073
Renal Tubular Dysgenesis
Oligohydramnios, Pulmonary hypoplasia OMIM:267430
Amoebiasis Due To Entamoeba Histolytica
Elevated circulating hepatic transaminase concentration, Pleural effusion, Elevated circulating a... ORPHA:67
Renal-Hepatic-Pancreatic Dysplasia 2
Pulmonary hypoplasia, Abnormal lung lobation, Oligohydramnios, Stillbirth OMIM:615415
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ascites, Intrauterine growth retardation, Pleural effusion, Polyhydramnios, Hydrops fetalis, Pulm... OMIM:616897
Xq12-Q13.3 Duplication Syndrome
Low alkaline phosphatase, Recurrent upper respiratory tract infections, Short stature ORPHA:314389
Thanatophoric Dysplasia, Type I
Disproportionate short-limb short stature, Lethal short-limbed short stature, Neonatal death, Pol... OMIM:187600
Glycosylphosphatidylinositol Biosynthesis Defect 17
Abnormality of alkaline phosphatase level, Growth delay OMIM:618010
Maternal Uniparental Disomy Of Chromosome 2
Postnatal growth retardation, Intrauterine growth retardation, Oligohydramnios, Respiratory infec... ORPHA:96179
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis, Disproportionate short-limb short stature, Pulmonary hypoplasia ORPHA:85166
Congenital Disorder Of Glycosylation, Type Iil
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:614576
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:3035
Glycosylphosphatidylinositol Biosynthesis Defect 25
Low alkaline phosphatase, Short stature OMIM:619985
Gillessen-Kaesbach-Nishimura Syndrome
Polyhydramnios, Pulmonary hypoplasia, Oligohydramnios, Abnormal lung lobation OMIM:263210
Microcephaly-Micromelia Syndrome
Pulmonary hypoplasia, Intrauterine growth retardation, Oligohydramnios, Neonatal death OMIM:251230
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Pulmonary hypoplasia, Disproportionate short-limb short stature, Neonatal d... OMIM:224410
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Tonne-Kalscheuer Syndrome
Short stature, Growth delay, Pulmonary hypoplasia OMIM:300978
Van Buchem Disease
Elevated circulating alkaline phosphatase concentration OMIM:239100
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Abnormality of alkaline phosphatase level OMIM:619356
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Matthew-Wood Syndrome
Abnormal lung morphology, Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:2470
Trichorhinophalangeal Syndrome, Type I
Short stature, Recurrent respiratory infections, Abnormality of alkaline phosphatase level, Growt... OMIM:190350
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration OMIM:615426
Specific Granule Deficiency 1
Recurrent pneumonia, Low neutrophil alkaline phosphatase OMIM:245480
Pallister-Hall-Like Syndrome
Short stature, Pulmonary hypoplasia OMIM:241800
Alg3-Cdg
Abnormal circulating enzyme concentration or activity, Decreased liver function, Pulmonary hypopl... ORPHA:79321
Familial Expansile Osteolysis
Elevated circulating alkaline phosphatase concentration OMIM:174810
Renal Hypodysplasia/Aplasia 1
Oligohydramnios, Pulmonary hypoplasia OMIM:191830
Gaucher Disease, Perinatal Lethal
Hepatic failure, Ascites, Intrauterine growth retardation, Neonatal death, Nonimmune hydrops feta... OMIM:608013
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Elevated circu... OMIM:619484
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Rhizomelia, Neonatal short-limb short stature, Stillbirth, Polyhydramnios, Pulmonary hypoplasia OMIM:151210
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Growth delay, Elevated circulating alkaline phosphatase concentration OMIM:615716
Paget Disease Of Bone 6
Elevated circulating alkaline phosphatase concentration OMIM:616833
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Elevated circulating alkaline phosphatase concentration OMIM:615424
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Polyhydramnios, Pulmonary hypoplasia, Neonatal death OMIM:314390
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Nephronophthisis 2
Oligohydramnios, Pulmonary hypoplasia OMIM:602088
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Oligohydramnios, Portal hypertension, Neonatal death, Dehydration, Pulmonary hypoplasia OMIM:263200
Severe Congenital Nemaline Myopathy
Polyhydramnios, Edema of the dorsum of hands, Pulmonary hypoplasia ORPHA:171430
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Peripheral pulmonary artery stenosis, Growth delay, Elevated circulating alkaline phosphatase con... OMIM:614749
Gorham-Stout Disease
Elevated alkaline phosphatase of bone origin, Edema, Pleural effusion ORPHA:73
Diaphanospondylodysostosis
Intrauterine growth retardation, Increased nuchal translucency, Oligohydramnios, Disproportionate... OMIM:608022
Microphthalmia, Syndromic 9
Severe short stature, Agenesis of pulmonary vessels, Intrauterine growth retardation, Bilateral l... OMIM:601186
Agnathia-Otocephaly Complex
Polyhydramnios, Pulmonary hypoplasia OMIM:202650
Lethal Congenital Contracture Syndrome 10
Intrauterine growth retardation, Hydrops fetalis, Oligohydramnios, Pulmonary hypoplasia OMIM:617022
Odontochondrodysplasia 1
Short stature, Mesomelic short stature, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Al Amyloidosis
Xerostomia, Peripheral edema, Elevated circulating alkaline phosphatase concentration, Abnormal p... ORPHA:85443
Cholesteryl Ester Storage Disease
Elevated gamma-glutamyltransferase level, Hepatic failure, Reduced lysosomal acid lipase activity... OMIM:278000
1Q41Q42 Microdeletion Syndrome
Short stature, Growth delay, Pulmonary hypoplasia ORPHA:250999
Glycosylphosphatidylinositol Biosynthesis Defect 11
Elevated circulating alkaline phosphatase concentration OMIM:616025
Camurati-Engelmann Disease, Type 2
Delayed puberty, Elevated circulating alkaline phosphatase concentration OMIM:606631
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Elevated gamma-glutamyltransferase level, Macular edema, Elevated circulating alkaline... ORPHA:247691
Vascular Malformation, Primary Intraosseous
Elevated circulating alkaline phosphatase concentration OMIM:606893
Graft Versus Host Disease
Pneumonia, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline... ORPHA:39812
Cholestasis, Progressive Familial Intrahepatic, 2
Short stature, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration,... OMIM:601847
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... ORPHA:79302
Acro-Renal-Mandibular Syndrome
Pulmonary hypoplasia, Intrauterine growth retardation, Oligohydramnios, Abnormal lung lobation ORPHA:958
Aggressive Systemic Mastocytosis
Elevated total serum tryptase, Decreased liver function, Ascites, Portal hypertension, Elevated c... ORPHA:98850
Primary Hepatic Neuroendocrine Carcinoma
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:100085
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Short stature, Elevated circulating alkaline phosphatase concentration ORPHA:52430
Short-Rib Thoracic Dysplasia 12
Atelectasis, Ascites, Intrauterine growth retardation, Neonatal death, Polyhydramnios, Edema, Pul... OMIM:269860
Hypophosphatemic Rickets, Autosomal Dominant
Short stature, Elevated circulating alkaline phosphatase concentration OMIM:193100
Raine Syndrome
Short stature, Pulmonary hypoplasia, Elevated circulating alkaline phosphatase concentration, Neo... OMIM:259775
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Ascites, Intrauterine g... OMIM:617156
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase concentration OMIM:605479
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary artery atresia, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:618316
Achondrogenesis, Type Ia
Increased nuchal translucency, Disproportionate short-trunk short stature, Stillbirth, Polyhydram... OMIM:200600
Bile Acid Synthesis Defect, Congenital, 3
Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransfe... OMIM:613812
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Oligohydramnios, Pulmonary hypoplasia OMIM:616866
Marden-Walker Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Pulmonary hypoplasia OMIM:248700
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Pulmonary hypoplasia, Neonatal death OMIM:231680
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Short stature, Polyhydramnios, Pulmonary hypoplasia OMIM:615503
Congenital Disorder Of Glycosylation, Type Iio
Prolonged neonatal jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentra... OMIM:616828
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short stature, Hydrops fetalis, Ascites, Pulmonary hypoplasia OMIM:614091
Atelosteogenesis Type I
Polyhydramnios, Neonatal short-trunk short stature, Rhizomelia, Pulmonary hypoplasia ORPHA:1190
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... OMIM:619662
Calvarial Doughnut Lesions With Bone Fragility
Severe short stature, Elevated circulating alkaline phosphatase concentration OMIM:126550
Osteopetrosis, Autosomal Recessive 9
Postnatal growth retardation, Elevated circulating alkaline phosphatase concentration OMIM:620366
Hypophosphatemic Rickets, Autosomal Recessive, 2
Short stature, Elevated circulating alkaline phosphatase concentration OMIM:613312
Epiphyseal Chondrodysplasia, Miura Type
Elevated alkaline phosphatase of bone origin OMIM:615923
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:617895
Intermediate Osteopetrosis
Elevated circulating alkaline phosphatase concentration ORPHA:210110
Intrahepatic Cholestasis Of Pregnancy
Ascites, Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating ... ORPHA:69665
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphysema, Ascites, Perio... OMIM:613177
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Pulmonary hypoplasia ORPHA:2847
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Hydrops fetalis, Pulmonary hypoplasia ORPHA:1865
Kagami-Ogata Syndrome
Polyhydramnios, Pulmonary hypoplasia OMIM:608149
Autosomal Dominant Hypophosphatemic Rickets
Growth delay, Elevated circulating alkaline phosphatase concentration ORPHA:89937
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Growth delay, Elevated circulating alkaline phosphatase concentration OMIM:600081
Teebi Hypertelorism Syndrome 1
Short stature, Pulmonary hypoplasia OMIM:145420
Fanconi-Bickel Syndrome
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... ORPHA:2088
Tetrasomy 5P
Postnatal growth retardation, Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:3309
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Elevated circulating alkaline phosphatase concentration OMIM:615422
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Elevated alkaline phosphatase of bone origin OMIM:167320
Distal Triplication 15Q
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:314588
Neuroleptic Malignant Syndrome
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:94093
Vacterl With Hydrocephalus
Polyhydramnios, Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:3412
Peroxisome Biogenesis Disorder 5A (Zellweger)
Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati... OMIM:614866
Renal Agenesis, Bilateral
Oligohydramnios, Pulmonary hypoplasia ORPHA:1848
Meckel Syndrome 14
Oligohydramnios, Pneumothorax, Increased nuchal translucency, Pulmonary hypoplasia OMIM:619879
Hyperphosphatasia-Intellectual Disability Syndrome
Oligohydramnios, Growth delay, Elevated circulating alkaline phosphatase concentration ORPHA:247262
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Elevated circulating alkaline phosphatase concentration OMIM:600785
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Growth delay, Elevated circulating alkaline phosphatase concentration OMIM:241530
Caroli Disease
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Ascites, Portal hypertension,... ORPHA:53035
Scimitar Syndrome
Pulmonary artery hypoplasia, Bronchogenic cyst, Pneumothorax, Partial anomalous pulmonary venous ... ORPHA:185
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Pulmonary hypoplasia OMIM:612530
Achondroplasia
Polyhydramnios, Rhizomelia, Neonatal short-limb short stature, Pulmonary hypoplasia OMIM:100800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Short stature, Elevated circulating hepatic transaminase concentration, Elevated circulating alka... OMIM:616026
Meacham Syndrome
Scimitar anomaly, Congenital alveolar dysplasia, Neonatal death, Stillbirth, Partial anomalous pu... OMIM:608978
Greenberg Dysplasia
Rhizomelia, Disproportionate short-limb short stature, Abnormal lung lobation, Increased nuchal t... OMIM:215140
Fanconi-Bickel Syndrome
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Elevated circulating aspartat... OMIM:227810
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Growth delay, Elevated circulating alkaline phosphatase concentration OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Growth delay, Elevated circulating alkaline phosphatase concentration OMIM:277440
Renal-Hepatic-Pancreatic Dysplasia 1
Pulmonary hypoplasia, Oligohydramnios, Portal hypertension, Neonatal death OMIM:208540
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia OMIM:620306
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas... ORPHA:263455
Renal Agenesis
Oligohydramnios, Pulmonary hypoplasia ORPHA:411709
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Elevated circulating aspartat... OMIM:605814
Acrocephalopolydactylous Dysplasia
Ascites, Extrapulmonary lobar sequestration, Pulmonary hypoplasia OMIM:200995
Fanconi Renotubular Syndrome 1
Short stature, Elevated circulating alkaline phosphatase concentration OMIM:134600
Lathosterolosis
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Elevated circulating aspartat... OMIM:607330
Paget Disease Of Bone 3
Elevated circulating alkaline phosphatase concentration OMIM:167250
Hypophosphatasia, Adult
Low alkaline phosphatase OMIM:146300
Congenital Myopathy 17
Polyhydramnios, Respiratory tract infection, Pulmonary hypoplasia OMIM:618975
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia OMIM:619708
Osteogenesis Imperfecta, Type Xi
Short stature, Elevated circulating alkaline phosphatase concentration OMIM:610968
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ... OMIM:600803
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated gamma-glutamyltransferase level, Jaundice, Elevated circulating alkaline phosphatase con... OMIM:613095
Oligomeganephronia
Dehydration, Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Developmental And Epileptic Encephalopathy 80
Growth delay, Elevated circulating alkaline phosphatase concentration OMIM:618580
Congenital Myopathy 22B, Severe Fetal
Ascites, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia OMIM:620369
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Short stature, Pulmonary hypoplasia, Mild intrauterine growth retardation, Stillbirth OMIM:308050
Neu-Laxova Syndrome
Polyhydramnios, Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:2671
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low alkaline phosphatase, Abnormal lung lobation ORPHA:369837
Hypocalcemic Vitamin D-Dependent Rickets
Short stature, Postnatal growth retardation, Elevated alkaline phosphatase of bone origin, Elevat... ORPHA:289157
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Autosomal Recessive Multiple Pterygium Syndrome
Short stature, Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:2990
Lethal Congenital Contracture Syndrome 9
Polyhydramnios, Intrauterine growth retardation, Pulmonary hypoplasia OMIM:616503
Fibrodysplasia Ossificans Progressiva
Elevated circulating alkaline phosphatase concentration OMIM:135100
Mosaic Trisomy 1
Polyhydramnios, Pulmonary artery atresia, Increased nuchal translucency, Pulmonary hypoplasia ORPHA:1692
Fetal Akinesia Deformation Sequence 1
Intrauterine growth retardation, Increased nuchal translucency, Nonimmune hydrops fetalis, Stillb... OMIM:208150
Mosaic Trisomy 16
Abnormal lung morphology, Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:1708
Osteopetrosis, Autosomal Recessive 1
Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat... OMIM:259700
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Neonatal short-limb short stature, Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia ORPHA:50945
Czeizel-Losonci Syndrome
Pulmonary hypoplasia ORPHA:2437
Caudal Regression Syndrome
Pulmonary hypoplasia ORPHA:3027
Meckel Syndrome, Type 6
Bilobed right lung, Pulmonary hypoplasia OMIM:612284
Genitopatellar Syndrome
Short stature, Pulmonary hypoplasia ORPHA:85201
Stuve-Wiedemann Syndrome 1
Intrauterine growth retardation, Oligohydramnios, Pulmonary arterial medial hypertrophy, Short st... OMIM:601559
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Low alkaline phosphatase, Short stature OMIM:201100
Hypophosphatemic Rickets, X-Linked Dominant
Short stature, Elevated circulating alkaline phosphatase concentration OMIM:307800
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:30391
Atelosteogenesis Type Ii
Rhizomelic arm shortening, Rhizomelia, Polyhydramnios, Pulmonary hypoplasia ORPHA:56304
Craniometadiaphyseal Dysplasia
Short stature, Elevated circulating alkaline phosphatase concentration OMIM:269300
Absence Of The Pulmonary Artery
Recurrent pneumonia, Pulmonary edema, Recurrent respiratory infections, Growth delay, Bronchiecta... ORPHA:980
Metaphyseal Chondrodysplasia, Jansen Type
Severe short stature, Elevated circulating alkaline phosphatase concentration OMIM:156400
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Short stature, Elevated circulating alkaline phosphatase concentration OMIM:614207
Chromosome 13Q33-Q34 Deletion Syndrome
Short stature, Pulmonary hypoplasia OMIM:619148
Osteogenesis Imperfecta, Type Vi
Elevated circulating alkaline phosphatase concentration OMIM:613982
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Postnatal growth retardation, Oligohydramnios, Repeated pneumothoraces, Pulmonary hy... ORPHA:536467
Lysosomal Acid Lipase Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Decreased liver functio... ORPHA:275761
Parenteral Nutrition-Associated Cholestasis
Elevated gamma-glutamyltransferase level, Hepatic failure, Elevated circulating hepatic transamin... ORPHA:567983
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Pulmonary hypoplasia, Rhizomelia, Stillbirth OMIM:616300
Truncus Arteriosus
Pulmonary artery hypoplasia, Abnormal lung lobation, Intrauterine growth retardation, Anomalous o... ORPHA:3384
Primary Biliary Cholangitis
Elevated gamma-glutamyltransferase level, Hepatic failure, Hepatitis, Ascites, Portal hypertensio... ORPHA:186
Developmental And Epileptic Encephalopathy 95
Low alkaline phosphatase, Elevated circulating alkaline phosphatase concentration OMIM:618143
Acrorenal-Mandibular Syndrome
Intrauterine growth retardation, Oligohydramnios, Pulmonary hypoplasia OMIM:200980
Mckusick-Kaufman Syndrome
Edema, Pedal edema, Pulmonary hypoplasia OMIM:236700
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Elevated circulating alkaline phosphatase concentration OMIM:239300
Paget Disease Of Bone 5, Juvenile-Onset
Short stature, Elevated circulating alkaline phosphatase concentration OMIM:239000
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia OMIM:616546
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short stature, Jaundice, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:208500
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:247598
Congenital Disorder Of Glycosylation, Type Iiaa
Elevated circulating aspartate aminotransferase concentration, Hepatic failure, Elevated circulat... OMIM:620454
Eiken Syndrome
Short stature, Elevated circulating alkaline phosphatase concentration OMIM:600002
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Cerebral edema, Short stature, Pulmonary artery atresia, Hydrops fetalis, Pulmonary ... OMIM:620371
Fryns Syndrome
Polyhydramnios, Pulmonary hypoplasia ORPHA:2059
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Elevated circulating aspartate aminotransferase concentrati... OMIM:280000
Autosomal Recessive Polycystic Kidney Disease
Elevated gamma-glutamyltransferase level, Recurrent pneumonia, Spontaneous pneumothorax, Ascites,... ORPHA:731
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Polyhydramnios, Pulmonary hypoplasia OMIM:614080
Esophageal Atresia
Bronchitis, Polyhydramnios, Recurrent respiratory infections, Growth delay, Pulmonary hypoplasia ORPHA:1199
Trichohepatoneurodevelopmental Syndrome
Polyhydramnios, Decreased liver function, Elevated circulating alkaline phosphatase concentration OMIM:618268
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Elevated circulating alkaline phosphatase concentration OMIM:618590
Orofaciodigital Syndrome Type 4
Severe short stature, Intrauterine growth retardation, Bilateral lung agenesis, Oligohydramnios, ... ORPHA:2753
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Elevated circulating hepatic transaminase concentration, Intrauterine growth retardation, Portal ... OMIM:620005
Paget Disease Of Bone 2, Early-Onset
Elevated circulating alkaline phosphatase concentration OMIM:602080
Hyperparathyroidism, Transient Neonatal
Polyhydramnios, Elevated circulating alkaline phosphatase concentration OMIM:618188
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Oligohydramnios, Pulmonary hypoplasia OMIM:619351
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Oligohydramnios, Pulmonary hypoplasia OMIM:271520
Restrictive Dermopathy 1
Intrauterine growth retardation, Oligohydramnios, Neonatal death, Stillbirth, Polyhydramnios, Pul... OMIM:275210
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated gamma-glutamyltransferase level, Generalized edema, Pulmonary artery dilatation, Ascites... OMIM:619534
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Polyhydramnios, Elevated circulating alkaline phosphatase concentration OMIM:618548
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Peroxisome Biogenesis Disorder 1A (Zellweger)
Prolonged neonatal jaundice, Pulmonary hypoplasia OMIM:214100
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Oligohydramnios, Pulmonary hypoplasia ORPHA:1112
Tarp Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:2886
Senior-Boichis Syndrome
Ascites, Elevated circulating hepatic transaminase concentration, Portal hypertension, Elevated c... ORPHA:84081
Alg9-Cdg
Rhizomelia, Abnormal lung lobation, Oligohydramnios, Pericardial effusion, Hydrops fetalis, Pulmo... ORPHA:79328
Pentalogy Of Cantrell
Pulmonary hypoplasia ORPHA:1335
Neu-Laxova Syndrome 1
Generalized edema, Intrauterine growth retardation, Neonatal death, Stillbirth, Polyhydramnios, P... OMIM:256520
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Ascite... ORPHA:171
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Short stature, Elevated alkaline phosphatase of bone origin, Growth delay ORPHA:157215
Oncogenic Osteomalacia
Elevated circulating alkaline phosphatase concentration ORPHA:352540
Combined Oxidative Phosphorylation Deficiency 58
Elevated circulating alkaline phosphatase concentration OMIM:620451
Thoracoabdominal Syndrome
Pulmonary hypoplasia OMIM:313850
Distal Deletion 15Q
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Growth delay, Pulmo... ORPHA:1596
Multiple Pterygium Syndrome, Escobar Variant
Short stature, Hydrops fetalis, Pulmonary hypoplasia OMIM:265000
Ogden Syndrome
Peripheral pulmonary artery stenosis, Lymphedema, Postnatal growth retardation, Intrauterine grow... OMIM:300855
Diaphragmatic Hernia 4, With Cardiovascular Defects
Polyhydramnios, Pulmonary artery hypoplasia, Aortopulmonary window, Pulmonary hypoplasia OMIM:620025
Pagod Syndrome
Short stature, Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Pulmonary hypopl... ORPHA:991
Smith-Lemli-Opitz Syndrome
Rhizomelia, Abnormal lung lobation, Intrauterine growth retardation, Increased nuchal translucenc... ORPHA:818
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elevated circulating alkaline phosphatase concentration OMIM:618162
Fibrous Dysplasia Of Bone
Short stature, Elevated circulating alkaline phosphatase concentration ORPHA:249
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:124000
Fontaine Progeroid Syndrome
Intrauterine growth retardation, Oligohydramnios, Neonatal death, Pneumothorax, Short stature, Re... OMIM:612289
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Pulmonary hypoplasia, Neonatal death OMIM:617925
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Mirizzi Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ... ORPHA:521219
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:562639
Fryns Syndrome
Polyhydramnios, Pulmonary hypoplasia, Chylothorax, Stillbirth OMIM:229850
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hydrops fetalis, Pulmonary hypoplasia OMIM:263520
Meier-Gorlin Syndrome 7
Short stature, Growth delay, Pulmonary hypoplasia OMIM:617063
Ulbright-Hodes Syndrome
Postnatal growth retardation, Oligohydramnios, Birth length less than 3rd percentile, Pneumothora... ORPHA:3404
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Elevated circulating alkaline phosphatase concentration OMIM:211900
Boudin-Mortier Syndrome
Elevated alkaline phosphatase of bone origin OMIM:619543
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Polyhydramnios, Hydrops fetalis, Elevated circulating alkaline phosphatase concentration OMIM:300868
Dpagt1-Cdg
Elevated circulating hepatic transaminase concentration, Anasarca, Pulmonary hypoplasia ORPHA:86309
Spondylodysplastic Ehlers-Danlos Syndrome
Short stature, Lymphedema, Pulmonary hypoplasia ORPHA:536471
Otopalatodigital Syndrome Type 2
Pulmonary hypoplasia ORPHA:90652
Gallbladder Neuroendocrine Tumor
Ascites, Elevated gamma-glutamyltransferase level, Elevated alkaline phosphatase of hepatic origi... ORPHA:100086
Estrogen Resistance
Delayed puberty, Elevated alkaline phosphatase of bone origin OMIM:615363
Renal Cysts And Diabetes Syndrome
Elevated circulating hepatic transaminase concentration, Abnormality of alkaline phosphatase level OMIM:137920
Estrogen Resistance Syndrome
Elevated tissue non-specific alkaline phosphatase ORPHA:785
Refractory Celiac Disease
Elevated circulating hepatic transaminase concentration, Elevated alkaline phosphatase of bone or... ORPHA:398063
Congenital Disorder Of Glycosylation, Type Iiw
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:619525
Meckel Syndrome, Type 1
Intrauterine growth retardation, Oligohydramnios, Pulmonary hypoplasia OMIM:249000
Leukemia, Chronic Myeloid
Reduced leukocyte alkaline phosphatase OMIM:608232
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:83617
Joubert Syndrome 21
Pulmonary hypoplasia OMIM:615636
X-Linked Hypophosphatemia
Disproportionate short stature, Growth delay, Elevated circulating alkaline phosphatase concentra... ORPHA:89936
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Postnatal growth retardation, Intrauterine growth retardation, Polyhydramnios, Pulmonary artery s... ORPHA:96334
Restrictive Dermopathy
Polyhydramnios, Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:1662
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Intrauterine growth retardation, Short stature, Growth delay, Pulmonary h... OMIM:270400
Penile Agenesis
Oligohydramnios, Bilateral lung agenesis, Pulmonary hypoplasia ORPHA:49
Reynolds Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ... OMIM:613471
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Osteogenesis Imperfecta
Rhizomelia, Intrauterine growth retardation, Short stature, Growth delay, Pulmonary hypoplasia ORPHA:666
Cardiac-Urogenital Syndrome
Partial anomalous pulmonary venous return, Pericardial effusion, Scimitar anomaly, Pulmonary hypo... OMIM:618280
Tetrasomy 9P
Jaundice, Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:3310
Metaphyseal Dysplasia, Braun-Tinschert Type
Elevated alkaline phosphatase of bone origin ORPHA:85188
Schinzel-Giedion Syndrome
Recurrent pneumonia, Pulmonary hypoplasia ORPHA:798
Juvenile Nephropathic Cystinosis
Elevated alkaline phosphatase of bone origin, Dehydration, Growth delay ORPHA:411634
Hypomagnesemia 3, Renal
Short stature, Elevated circulating alkaline phosphatase concentration OMIM:248250
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis, Disproportionate short-limb short stature, Pulmonary hypoplasia ORPHA:93271
Fraser Syndrome 1
Pulmonary hypoplasia OMIM:219000
Spondyloepimetaphyseal Dysplasia, X-Linked
Disproportionate short-trunk short stature, Abnormality of alkaline phosphatase level OMIM:300106
Autosomal Recessive Hypophosphatemic Rickets
Short stature, Elevated alkaline phosphatase of bone origin, Growth delay ORPHA:289176
Genitopatellar Syndrome
Polyhydramnios, Pulmonary hypoplasia OMIM:606170
Fraser Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2052
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Pulmonary artery stenosis, Infracardiac total ... ORPHA:99125
Pallister-Killian Syndrome
Rhizomelia, Mesomelic/rhizomelic limb shortening, Polyhydramnios, Stillbirth, Edema of the dorsum... OMIM:601803
Generalized Arterial Calcification Of Infancy
Ascites, Pericardial effusion, Polyhydramnios, Hydrops fetalis, Elevated alkaline phosphatase of ... ORPHA:51608
Microphthalmia, Syndromic 1
Growth delay, Pulmonary hypoplasia OMIM:309800
Craniofacial Microsomia 1
Pulmonary hypoplasia OMIM:164210

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.

There is no histopathology data for Emb

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 Emb.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Absence of Embigin accelerates hearing loss and causes sub-viability, brain and heart defects in C57BL/6N mice due to interaction with Cdh23ahl. iScience (September 2023) Embtm1b(KOMP)Wtsi PMC10579432
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Embtm1b(KOMP)Wtsi PMC5638796

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Embtm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Embtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Embtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter