Gene Summary

Name:
AF4/FMR2 family, member 3
Synonyms:
Laf4,  LAF-4,  3222402O04Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
fusion of vertebral arches Aff3tm1a(EUCOMM)Wtsi HOM Early adult 7.64×10-06
increased circulating alkaline phosphatase level Aff3tm1a(EUCOMM)Wtsi HOM Early adult 1.79×10-05
abnormal tooth morphology Aff3tm1a(EUCOMM)Wtsi HOM   Early adult 2.26×10-06
increased circulating chloride level Aff3tm1a(EUCOMM)Wtsi HOM Early adult 1.70×10-05
decreased grip strength Aff3tm1a(EUCOMM)Wtsi HOM Early adult 5.01×10-05
decreased circulating serum albumin level Aff3tm1a(EUCOMM)Wtsi HOM   Early adult 6.15×10-06
abnormal incisor morphology Aff3tm1a(EUCOMM)Wtsi HOM Early adult 2.74×10-07
abnormal snout morphology Aff3tm1a(EUCOMM)Wtsi HOM Early adult 5.93×10-05
decreased circulating fructosamine level Aff3tm1a(EUCOMM)Wtsi HOM Early adult 3.74×10-05
abnormal vertebral arch morphology Aff3tm1a(EUCOMM)Wtsi HET Early adult 5.92×10-08
vertebral transformation Aff3tm1a(EUCOMM)Wtsi HOM Early adult 1.79×10-06
abnormal vertebral arch morphology Aff3tm1a(EUCOMM)Wtsi HOM Early adult 3.07×10-07

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 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 50% (1 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
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)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood vessel 0.0%
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyer's patch 0.58% (1 of 171)
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
uterus 0.0%
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.

X-ray

XRay Images Skull Dorso Ventral Orientation

28 Images

X-ray

XRay Images Skull Lateral Orientation

25 Images

X-ray

XRay Images Whole Body Lateral Orientation

27 Images

X-ray

XRay Images Forepaw

21 Images

X-ray

XRay Images Whole Body Dorso Ventral

28 Images

Legacy Phenotype Associated Images

View all 151 images

View all 12 images

View all 7 images

Human diseases caused by Aff3 mutations

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

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

The table below shows human diseases associated to Aff3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Kinsship Syndrome
Widely spaced teeth, Thick lower lip vermilion, Micrognathia, Smooth philtrum, Wide mouth, Short ... OMIM:619297

The table below shows human diseases predicted to be associated to Aff3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis OMIM:616566
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Pulp calcification, Taurodontia, Microdontia OMIM:313490
Fryns Macrocephaly
Macrodontia of permanent maxillary central incisor, Short philtrum, Wide mouth, Knee flexion cont... OMIM:600302
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Discolored lateral incisors, Oligodontia, Irregular vertebral endplates, Platyspondyly, Genu valg... OMIM:601668
Oligodontia
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... ORPHA:99798
Dens In Dente And Palatal Invaginations
Abnormality of the dentition, Dens in dente OMIM:125300
Primary Basilar Invagination
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology ORPHA:2285
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Osteomesopyknosis
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body ORPHA:2777
Regional Odontodysplasia
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... ORPHA:83450
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly ORPHA:3180
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2956
Galloway-Mowat Syndrome 6
High palate, Wide mouth, Microdontia, Downturned corners of mouth, Delayed skeletal maturation, H... OMIM:618347
Amelogenesis Imperfecta
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... ORPHA:88661
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... OMIM:277300
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Spondylosis, Cervical
Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis OMIM:184300
Clark-Baraitser syndrome
Thick lower lip vermilion, Exaggerated median tongue furrow, Maxillary lateral incisor microdonti... OMIM:300602
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Dextrocardia With Unusual Facies And Microphthalmia
Micrognathia, Cleft palate, Vertebral segmentation defect, Vertebral fusion OMIM:221950
Pyle Disease
Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Platyspondyly, Delayed eruptio... OMIM:265900
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Micrognathia, Cleft palate, High palate, Pierre-Robin sequence, Hip contracture, K... OMIM:618363
Atkin-Flaitz Syndrome
Thick lower lip vermilion, Exaggerated median tongue furrow, Maxillary lateral incisor microdonti... OMIM:300431
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... ORPHA:2064
Pycnodysostosis
Carious teeth, Spondylolysis, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Worm... OMIM:265800
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Hypoalbuminemia ORPHA:88643
Verheij Syndrome
Vertebral fusion, Hemivertebrae, Long philtrum, Short nose, Wide nasal bridge, Hip dislocation, T... OMIM:615583
Maxillonasal Dysplasia, Binder Type
Vertebral clefting, Short nose, Patchy distortion of vertebrae, Dental malocclusion OMIM:155050
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... OMIM:616000
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Intellectual Disability, Birk-Barel Type
Contractures involving the joints of the feet, High, narrow palate, Micrognathia, Short philtrum,... ORPHA:166108
Alg6-Cdg
Decreased LDL cholesterol concentration, Macroglossia, Scoliosis, Hypoalbuminemia ORPHA:79320
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Hypodontia, Dens in dente, Spinal canal stenosis, Vertebral fusion, Hemiverteb... OMIM:263540
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Macroglossia, Achilles tend... OMIM:606612
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Dentinogenesis Imperfecta
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... ORPHA:49042
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Hypodontia, Cleft palate, Vertebral fusion, Hemivertebrae, Mandibular prognathia, Abnormal form o... ORPHA:2916
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Cleft palate, Antecubital pterygium, Fused cervical vertebrae, Short neck, Fle... OMIM:618469
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion, Short neck,... OMIM:616202
Brachydactyly, Type B1
Delayed eruption of permanent teeth, Vertebral fusion, Hemivertebrae, Joint contracture of the ha... OMIM:113000
Alg1-Cdg
Kyphosis, Scoliosis, Limitation of joint mobility, Hypoalbuminemia ORPHA:79327
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... ORPHA:199306
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Diastema, Wide mouth, Macroglossia, Gingival ... OMIM:618729
Multiple Synostoses Syndrome 2
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symphalangism, Carpal synosto... OMIM:610017
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Hypodontia, Micrognathia, Proximal symphalangism of hands, Microdontia, Oligod... ORPHA:363417
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Congenital Disorder Of Glycosylation, Type Ih
Short neck, Camptodactyly, Long philtrum, Hypoalbuminemia OMIM:608104
Otopalatodigital Syndrome Type 1
Cleft palate, Oligodontia, Hypoplastic frontal sinuses, Abnormal vertebral segmentation and fusio... ORPHA:90650
Dentin Dysplasia, Type I
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... OMIM:125400
Rajab Interstitial Lung Disease With Brain Calcifications 2
Joint hypermobility, Scoliosis, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Gorlin Syndrome
Carious teeth, Vertebral fusion, Vertebral wedging, Hemivertebrae, Mandibular prognathia, Wide na... ORPHA:377
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Tarsal synostosis, Cleft palate, Vertebral fusion, Hip contracture, Hemivertebrae, Craniosynostos... OMIM:178110
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Conical incisor, Smooth philtrum, Oligodontia, Malar flattening, Gingival overgrowth, Delayed eru... OMIM:235510
Kbg Syndrome
Cleft palate, Vertebral fusion, Oligodontia, Long philtrum, Widely-spaced maxillary central incis... ORPHA:2332
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Supernume... OMIM:609813
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Aarskog-Scott Syndrome
Cleft palate, Long philtrum, Cleft upper lip, Abnormal vertebral segmentation and fusion, Wide na... ORPHA:915
Dental Anomalies And Short Stature
Widely spaced teeth, Herniation of intervertebral nuclei, Intervertebral space narrowing, Microdo... OMIM:601216
Mental Retardation, Autosomal Dominant 21
Cleft palate, Long philtrum, Thin vermilion border, Sacral dimple, Narrow mouth, Incisor macrodontia OMIM:615502
Nephrotic Syndrome, Type 11
Micrognathia, Cleft palate, Smooth philtrum, High palate, Hypercholesterolemia, Cleft lip, Hypoal... OMIM:616730
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... OMIM:204700
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Butterfly vertebrae, Vertebral fusion, Exaggerated median tongue furrow,... ORPHA:313892
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Block vertebrae, Spina bifi... OMIM:613686
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Macroglossia, Achilles tend... OMIM:607155
Metaphyseal Chondrodysplasia, Spahr Type
Carious teeth, Genu varum, Reduced bone mineral density, Hyperlordosis, Delayed skeletal maturati... ORPHA:2501
Asymmetric Short Stature Syndrome
Micrognathia, Dental crowding, Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Keratoconus Posticus Circumscriptus
Cleft palate, Cleft upper lip, Abnormal vertebral segmentation and fusion, Short neck, Limited el... OMIM:244600
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Scoliosis, Hypoalbuminemia OMIM:208920
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Wide nasal bridge, Fused cervical vertebrae, Thoracic hemivertebrae, Prominent metopic ridge, Sco... OMIM:309620
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia OMIM:246700
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta OMIM:615887
Osteogenesis Imperfecta, Type V
Biconcave vertebral bodies, Limited pronation/supination of forearm, Vertebral wedging, Wormian b... OMIM:610967
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Amelogenesis imperfecta, Increased overbite, Enamel hypoplasia OMIM:617297
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Ankle flexion contracture, High palate, Partial fusion ... OMIM:305620
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft palate, Cleft upper lip, Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Short n... OMIM:214300
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Cleft palate, Diastema, Microdontia, Talon cusp, Deep philtrum, Carpal synosto... OMIM:605282
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Cleft palate, Abnormal sacrum morphology, Abnormal vertebral... ORPHA:2345
Tricho-Dento-Osseous Syndrome
Widely spaced teeth, Microdontia, Enamel hypomineralization, Agenesis of incisor, Taurodontia, In... ORPHA:3352
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia, Wide nasal bridge OMIM:262020
Spondylocostal Dysostosis 5
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Short neck, Scoliosis, Low back pain OMIM:122600
Kbg Syndrome
Vertebral fusion, Oligodontia, Long philtrum, Widely-spaced maxillary central incisors, Vertebral... OMIM:148050
Atkin-Flaitz Syndrome
Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,... ORPHA:1193
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Florid Cemento-Osseous Dysplasia
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... ORPHA:83451
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Cleft palate, Abnormal vertebral segme... ORPHA:66637
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Micrognathia, Long nose, Long philtrum, Abnor... OMIM:257850
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Micrognathia, High palate, Long philtrum, Cervical C2/C3 vertebral fusion, Everted lower lip verm... OMIM:616549
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, High, narrow palate, Micrognathia, Short phil... OMIM:216550
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Multiple Pterygium Syndrome, X-Linked
Micrognathia, Cleft palate, Vertebral fusion, Cleft upper lip, Increased susceptibility to fractu... OMIM:312150
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Otodental Dysplasia
Ankylosis, Hypodontia, Pulp calcification, Long philtrum, Taurodontia OMIM:166750
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Shovel-shaped maxillary central incisors, Increased overbite, Enamel hypoplasia, Dental crowding OMIM:600907
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae ORPHA:1436
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral segmentation defect, Vertebral fusion OMIM:618845
Leishmaniasis
Abnormal oral mucosa morphology, Abnormal oral cavity morphology, Hypoalbuminemia ORPHA:507
X-Linked Intellectual Disability Due To Gria3 Mutations
Macrodontia of permanent maxillary central incisor, Short philtrum, Mandibular prognathia, Malar ... ORPHA:364028
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Otodental Syndrome
Carious teeth, Pulp calcification, Long philtrum, Odontoma, Abnormal dental enamel morphology, Gi... ORPHA:2791
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Reduced bone mineral density, Intervertebral space narrowing, High palate, Vertebral ... ORPHA:93315
Multiple Pterygium Syndrome, Lethal Type
Micrognathia, Cleft palate, Vertebral fusion, Increased susceptibility to fractures, Joint disloc... OMIM:253290
Immunodeficiency 27A
Salmonella osteomyelitis, Hypoalbuminemia OMIM:209950
Lowry-Maclean Syndrome
High, narrow palate, Micrognathia, Cleft palate, Talon cusp, Osteoporosis, Craniosynostosis, Shor... ORPHA:2409
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Micrognathia, Kyphosis, Fused cervical vertebrae, Abnormality of dental morphology, Hyperlordosis... ORPHA:2522
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met... ORPHA:88618
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Koolen-De Vries Syndrome
High, narrow palate, Hypodontia, Cleft palate, Microdontia, Vertebral fusion, Abnormal dental ena... ORPHA:96169
Trichodentoosseous Syndrome
Widely spaced teeth, Taurodontia, Microdontia, Increased bone mineral density OMIM:190320
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Macroglossia, Wide nasal bridge, Acetabular dysplasia, Thick vermilion border, F... OMIM:617303
Amelogenesis Imperfecta, Type Ia
Taurodontia, Generalized microdontia, Amelogenesis imperfecta OMIM:104530
Lateral Meningocele Syndrome
Biconcave vertebral bodies, Micrognathia, High palate, Smooth philtrum, Vertebral fusion, Long ph... OMIM:130720
Spondylocarpotarsal Synostosis Syndrome
Tarsal synostosis, Hypoplasia of the odontoid process, Cleft palate, Failure of eruption of perma... OMIM:272460
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Clavicular sclerosis, Metaca... OMIM:144750
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Generalized osteosc... ORPHA:210110
Marshall Syndrome
Macrodontia of permanent maxillary central incisor, Thick lower lip vermilion, Micrognathia, Clef... OMIM:154780
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Osteoporosis, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Micrognathia, Cervical instability, Laryngotracheomalacia, Abnormal vertebral morp... ORPHA:93346
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Hip dislocation,... OMIM:203550
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Kniest Dysplasia
Cleft palate, Laryngotracheomalacia, Pierre-Robin sequence, Vertebral wedging, Coronal cleft vert... ORPHA:485
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Juvenile rheumatoid arthritis, Hypertriglyceridemia... ORPHA:158061
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Kyphosis, Osteopenia, Thin upper lip vermilion, Hypoalbuminemia, Flexion con... OMIM:212065
Microcephalic Primordial Dwarfism, Montreal Type
Carious teeth, Abnormal palate morphology, Micrognathia, Open bite, Reduced bone mineral density,... ORPHA:2617
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Carious teeth, Decreased serum zinc, Decreased serum iron, Abnormal circulating selenium concentr... ORPHA:89842
Tooth Agenesis, Selective, X-Linked, 1
Hypodontia, Agenesis of lateral incisor, Oligodontia, Selective tooth agenesis, Agenesis of premo... OMIM:313500
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Long philtrum, Wide nasal bridge, Fused cervical vertebrae, Carpal synostosis,... OMIM:157800
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Knee pain, Hypoalbuminemia OMIM:614441
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Shovel-shaped maxillary central incisors, Wide nasal bridge, Dental crowding, Open mouth OMIM:600906
Klippel-Feil Syndrome 1, Autosomal Dominant
Cleft palate, Abnormal vertebral segmentation and fusion, Cervical C2/C3 vertebral fusion, Short ... OMIM:118100
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar kyphosis, Macroglossia, Short nose, Thoracic kyphosis, Thick vermilion border, Hypoalbumin... ORPHA:505248
Robinow Syndrome, Autosomal Recessive 1
Absent uvula, Malar flattening, Short nose, Hypoplastic sacrum, Thin upper lip vermilion, Delayed... OMIM:268310
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Osteogenesis Imperfecta, Type Xi
Biconcave vertebral bodies, Vertebral wedging, Increased susceptibility to fractures, Kyphoscolio... OMIM:610968
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... ORPHA:247585
Mucopolysaccharidosis, Type Iva
Carious teeth, Widely spaced teeth, Hypoplasia of the odontoid process, Wide mouth, Cervical subl... OMIM:253000
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis ORPHA:1445
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
Fibrodysplasia Ossificans Progressiva
Widely spaced teeth, Ectopic ossification in muscle tissue, Ectopic ossification in ligament tiss... OMIM:135100
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Micrognathia, High palate, Hip dislocation, Narrow mouth, Camptodactyly OMIM:617729
Nance-Horan Syndrome
Mulberry molar, Supernumerary maxillary incisor, Diastema, Screwdriver-shaped incisors OMIM:302350
Hypophosphatasia, Adult
Carious teeth, Chondrocalcinosis, Premature loss of permanent teeth, Rickets, Increased susceptib... OMIM:146300
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Calvarial Doughnut Lesions With Bone Fragility
Carious teeth, Osteoporosis, Platyspondyly, Osteopenia, Recurrent fractures, Scoliosis OMIM:126550
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Dental enamel pits, ... OMIM:616221
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Scoliosis, Hypoalbuminemia OMIM:619055
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Micrognathia, Cleft palate, Pierre-Robin sequence, Oligodontia, Hypoplastic fr... ORPHA:90652
Bacterial Toxic-Shock Syndrome
Sinusitis, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulat... ORPHA:36234
Alg12-Cdg
Hyponatremia, Micrognathia, Short philtrum, Hypocholesterolemia, Abnormal bone ossification, Thin... ORPHA:79324
Albers-Schönberg Osteopetrosis
Carious teeth, Generalized osteosclerosis, Joint dislocation, Arthritis, Osteomyelitis, Genu valg... ORPHA:53
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Craniometadiaphyseal Dysplasia
Carious teeth, High palate, Genu varum, Microdontia, Mandibular prognathia, Sclerosis of skull ba... OMIM:269300
Acrofacial Dysostosis, Catania Type
Carious teeth, Spina bifida occulta OMIM:101805
Lamb-Shaffer Syndrome
Micrognathia, Fused cervical vertebrae, Thoracic kyphosis, Thick vermilion border, Scoliosis ORPHA:530983
Mucopolysaccharidosis Type 4
Carious teeth, Spinal canal stenosis, Wide mouth, Abnormal dental enamel morphology, Platyspondyl... ORPHA:582
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Cerebellar-Facial-Dental Syndrome
Macrodontia of permanent maxillary central incisor, Contractures involving the joints of the feet... ORPHA:444072
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Mucopolysaccharidosis, Type Ivb
Carious teeth, Widely spaced teeth, Hypoplasia of the odontoid process, Wide mouth, Cervical subl... OMIM:253010
Mosaic Trisomy 20
Micrognathia, Cleft palate, Limited pronation/supination of forearm, Vertebral fusion, Spinal can... ORPHA:1724
Familial Osteodysplasia, Anderson Type
Carious teeth, Failure of eruption of permanent teeth, Long nose, Mandibular prognathia, Increase... ORPHA:2769
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Taurodontia, Oligodontia OMIM:272980
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Amelogenesis Imperfecta, Type Iv
Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104510
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:613090
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Flexion contracture, Hypoalbuminemia ORPHA:367
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Genu varum, Genu valgum, Delayed skeletal maturation, Hypoplasia of teeth, Hypopho... OMIM:613312
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... OMIM:603553
Aicardi-Goutieres Syndrome 9
Osteoporosis, Scoliosis, Hypoalbuminemia OMIM:619487
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Kyphoscoliosis, Retrognathia, Impaired mastic... ORPHA:466722
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Anterior open-bite malocclusi... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion, Hypocalcification of de... OMIM:618386
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Conical incisor, Micrognathia, Long philtrum, Maxillary lateral incisor microdontia, Thin vermili... ORPHA:73223
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia ORPHA:90362
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Wide nasal bridge, Tented upper lip vermilion, Abnormality of primary teeth, Thin up... ORPHA:438216
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Stomatitis, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Elevated circulating C-reactive ... OMIM:612852
Pallister W Syndrome
Agenesis of central incisor, Cubitus valgus, Joint contracture of the hand, Wide nasal bridge, Br... OMIM:311450
Faciodigitogenital Syndrome, Autosomal Recessive
High palate, Wide mouth, Vertebral fusion, Hyperextensible hand joints, Short nose, Deep philtrum... OMIM:227330
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Enamel hypoplasia, Hypoalbuminemia, Smooth tongue, Oral mucosal blisters ORPHA:79396
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Advanced eruption of teeth, Delayed eruption of teeth, Abnorma... ORPHA:1028
Pycnodysostosis
Carious teeth, Obtuse angle of mandible, Increased bone mineral density, Delayed cranial suture c... ORPHA:763
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Multiple Pterygium Syndrome, Escobar Variant
Cleft palate, Dysplastic patella, Micrognathia, High palate, Patellar aplasia, Neck pterygia, Lon... OMIM:265000
Orofaciodigital Syndrome Type 2
Peg-shaped maxillary lateral incisors, Micrognathia, Cleft palate, High palate, Agenesis of centr... ORPHA:2751
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Wolcott-Rallison Syndrome
Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia ORPHA:1667
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Long nose, Fused cervical vertebrae OMIM:184460
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Long philtrum, Malar flattening, Shoulder dislocation, Anterior vertebral fusion, Elb... OMIM:171480
Galloway-Mowat Syndrome 1
Micrognathia, High palate, Wide mouth, Joint contracture of the hand, Hypoalbuminemia, Camptodactyly OMIM:251300
Mohr Syndrome
Micrognathia, Cleft palate, High palate, Agenesis of central incisor, Tongue nodules, Accessory o... OMIM:252100
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Alkaptonuria
Vertebral fusion, Intervertebral disc degeneration, Arthritis, Kyphosis, Limited hip movement, Li... OMIM:203500
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypocholesterolemia, Kyphoscoliosis, Abnormal circulatin... ORPHA:14
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Chondrocalcinosis, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, O... OMIM:601678
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Carious teeth, Kyphosis, Camptodactyly of finger, Scoliosis, Joint contracture of the 5th finger ORPHA:1883
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:602522
Ellis Van Creveld Syndrome
Conical incisor, Hypodontia, Microdontia, Capitate-hamate fusion, Cubitus valgus, Thin vermilion ... ORPHA:289
Basal Cell Nevus Syndrome
Odontogenic keratocysts of the jaw, Cleft palate, Irregular ossification of hand bones, Vertebral... OMIM:109400
Trichohepatoenteric Syndrome 1
Increased serum iron, Abnormality of iron homeostasis, Wide mouth, Long philtrum, Bifid uvula, Na... OMIM:222470
Craniolenticulosutural Dysplasia
Carious teeth, Posterior wedging of vertebral bodies, Smooth philtrum, High palate, Microdontia, ... ORPHA:50814
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral segmentation defect,... ORPHA:3109
Al Amyloidosis
Abnormal salivary gland morphology, Macroglossia, Xerostomia, Increased circulating NT-proBNP con... ORPHA:85443
Robinow Syndrome
Hypodontia, Micrognathia, Dental crowding, Hemivertebrae, Long philtrum, Kyphoscoliosis, Tooth ma... ORPHA:97360
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Caudal Regression Sequence
Abnormal vertebral segmentation and fusion, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebr... ORPHA:3027
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth, Limitation of... ORPHA:3145
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Bone pain, Abnormal circulating albumin concentration ORPHA:86839
Crisponi/Cold-Induced Sweating Syndrome 1
Carious teeth, Micrognathia, High palate, Long philtrum, Kyphoscoliosis, Narrow mouth, Limited el... OMIM:272430
Dysostosis, Stanescu Type
Carious teeth, Abnormal palate morphology, Macroglossia, Hypoplasia of the zygomatic bone, Abnorm... ORPHA:1798
Koolen-De Vries Syndrome
Widely spaced teeth, High palate, Cleft palate, Vertebral fusion, Cleft upper lip, Kyphosis, Join... OMIM:610443
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Autosomal Recessive Kenny-Caffey Syndrome
Carious teeth, Hypocalcemic tetany, Hypocalcemic seizures, Calvarial osteosclerosis, Decreased sk... ORPHA:93324
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, High palate, Unconjugated hyperbilirubinemia, Rickets, Reduced bone mineral dens... OMIM:613658
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Agenesis of central incisor, Cleft palate, Pierre-Robin sequence, Oligodontia, Long upper lip, Mi... ORPHA:364577
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Taurodontism
Taurodontia OMIM:272700
Smith-Magenis Syndrome
Micrognathia, Cleft palate, Short philtrum, Mandibular prognathia, Cleft upper lip, Abnormal form... ORPHA:819
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Abnormal circulating lipid concentration, Abnormal circulatin... ORPHA:2298
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Hypocalcemia, Osteomyelitis, Hypomagnesemia, Hypoalbuminemia, Abnorma... ORPHA:37042
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Hypodontia, Micrognathia, Abnormality of primary molar morphology, Gingival bleeding, Delayed clo... OMIM:225410
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Osteoporosis, Conjugated hyperbilirubinemia, Hypoalbumi... ORPHA:186
Non-Specific Syndromic Intellectual Disability
Micrognathia, High palate, Smooth philtrum, Long philtrum, Thin vermilion border, Wide nasal brid... ORPHA:528084
Cleidocranial Dysplasia
Sinusitis, Carious teeth, Cleft palate, Abnormal dental enamel morphology, Delayed eruption of te... ORPHA:1452
Bartter Syndrome, Type 2, Antenatal
Chondrocalcinosis, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Osteopenia, Hypo... OMIM:241200
Momo Syndrome
Thick lower lip vermilion, High palate, Smooth philtrum, Long philtrum, Wide nasal bridge, Delaye... OMIM:157980
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Sandwich appearance of vertebral bodies, Osteopetrosis, Craniosynostosis, Calvaria... OMIM:259700
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Fused cervical vertebrae, Retrognathia, Spina bifida occulta, Submucous clef... OMIM:619227
Frontometaphyseal Dysplasia
Interphalangeal joint contracture of finger, Micrognathia, Cleft palate, Oligodontia, Limitation ... ORPHA:1826
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Thin upper lip vermilion ORPHA:370010
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Hemivertebrae, Supernumerary vertebrae, Block vertebrae, Short neck, Scoliosis OMIM:271520
Atelosteogenesis, Type I
Knee dislocation, Micrognathia, Cleft palate, Coronal cleft vertebrae, Short nose, Malar flatteni... OMIM:108720
Myhre Syndrome
Cleft palate, Short philtrum, Vertebral fusion, Mandibular prognathia, Malar flattening, Platyspo... OMIM:139210
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Genu varum, Cleft palate, Aplasia/Hypoplasia of the patella, Fused cervical vertebr... ORPHA:3320
Microphthalmia, Syndromic 3
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Vertebral hypoplasia OMIM:206900
Doors Syndrome
Widely spaced teeth, Thick lower lip vermilion, Macrodontia of permanent maxillary central inciso... ORPHA:79500
Duane Retraction Syndrome
Micrognathia, Cleft palate, Abnormal vertebral segmentation and fusion, Abnormal form of the vert... ORPHA:233
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Mandibuloacral Dysplasia With Type A Lipodystrophy
Micrognathia, High palate, Calcinosis, Premature loss of teeth, Hyperlipidemia, Wormian bones, Ac... OMIM:248370
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypokalemia, Elevated circulating creatine kinase concentration, Elevated circul... ORPHA:99826
Juvenile Polyposis Of Infancy
High, narrow palate, Narrow mouth, Hypoalbuminemia ORPHA:79076
W Syndrome
Cubitus valgus, Elbow dislocation, Upper lip pit, Broad uvula, Camptodactyly, Agenesis of maxilla... ORPHA:2804
Rubinstein-Taybi Syndrome 1
Delayed skeletal maturation, Delayed cranial suture closure, Hypoplasia of the maxilla, Micrognat... OMIM:180849
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Pulp calcification, Calcinosis, Taurodontia, Enamel hypoplasia, Hyperphosphatemia OMIM:211900
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Cleft palate, Mandibular prognathia, Malar flattening, Bifid uvu... OMIM:101200
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hypokalemia, Hypochloremia, Hypomagnesemia, Increased circulating renin level ORPHA:89938
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Bone pain ORPHA:88673
Osteogenesis Imperfecta
Carious teeth, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Delayed ... ORPHA:666
Simpson-Golabi-Behmel Syndrome
High, narrow palate, Cleft palate, Wide mouth, Vertebral fusion, Macroglossia, Mandibular prognat... ORPHA:373
Craniofacial Microsomia
Micrognathia, Cleft palate, Wide mouth, Hemivertebrae, Cleft upper lip, Malar flattening, Vertebr... OMIM:164210
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Tooth agenesis OMIM:150400
Ctcf-Related Neurodevelopmental Disorder
Macrodontia of permanent maxillary central incisor, Cleft palate, Microdontia, Short philtrum, Lo... ORPHA:363611
Craniolenticulosutural Dysplasia
Carious teeth, Cleft palate, Smooth philtrum, Wide mouth, Long philtrum, Delayed closure of the a... OMIM:607812
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypocholesterolemia, H... ORPHA:90363
X-Linked Hypophosphatemia
Genu varum, Sacroiliac joint synovitis, Rickets, Vertebral hyperostosis, Generalized osteoscleros... ORPHA:89936
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Cleft palate, Mandibular prognathia, Bifid uvula, Delayed erupti... ORPHA:87
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Abnormality of the curvature of the vertebral column, Hypodontia, Talon cusp, Avas... ORPHA:353281
Orofacial Cleft 15
Bilateral cleft palate, Agenesis of lateral incisor, Bilateral cleft lip, Palate fistula OMIM:616788
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Micrognathia, Long philtrum, Mandibular prognathia, Generalized joint laxity, Wide nasal bridge, ... ORPHA:508498
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Schimke Immuno-Osseous Dysplasia
Hypodontia, Abnormality of primary molar morphology, Microdontia, Hyperlipidemia, Platyspondyly, ... ORPHA:1830
Wolf-Hirschhorn Syndrome
Micrognathia, Cleft palate, Hypodontia, Short philtrum, Vertebral fusion, Radioulnar synostosis, ... OMIM:194190
Thakker-Donnai Syndrome
Hemivertebrae, Cervical C2/C3 vertebral fusion, Downturned corners of mouth, Narrow mouth, Short ... ORPHA:1780
Peters-Plus Syndrome
Widely spaced teeth, Conical incisor, Micrognathia, Cleft palate, Short lingual frenulum, Hemiver... OMIM:261540
Primary Sclerosing Cholangitis
Osteoporosis, Osteopenia, Hypoalbuminemia ORPHA:171
Aicardi Syndrome
Cleft palate, Butterfly vertebrae, Short philtrum, Cleft upper lip, Block vertebrae, Scoliosis, P... ORPHA:50
Frontometaphyseal Dysplasia 2
High palate, Cleft palate, Short philtrum, Pierre-Robin sequence, Hip contracture, Bifid uvula, D... OMIM:617137
Oculodentodigital Dysplasia
Carious teeth, Cleft palate, Premature loss of teeth, Microdontia, Cleft upper lip, Vertebral hyp... OMIM:164200
Aicardi Syndrome
Cleft palate, Butterfly vertebrae, Hemivertebrae, Cleft upper lip, Block vertebrae, Scoliosis, Pr... OMIM:304050
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Arthritis, Osteomyelitis, Hypoalbuminemia, Oral ulcer, Osteomalacia, Elevated circ... OMIM:619381
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia, Accelerated skeletal maturation ORPHA:90794
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Short neck, Scoliosis, Vertebral fusion, Hemivertebrae ORPHA:94095
Aspartylglucosaminuria
Carious teeth, Abnormal vertebral morphology, Macroglossia, Mandibular prognathia, Beaking of ver... ORPHA:93
Robin Sequence With Cleft Mandible And Limb Anomalies
High palate, Cleft palate, Pierre-Robin sequence, Bifid uvula, Aplasia of the epiglottis, Cleft l... OMIM:268305
Isolated Cleft Lip
Hypodontia, Supernumerary maxillary incisor, Velopharyngeal insufficiency, Non-midline cleft lip,... ORPHA:199302
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae OMIM:609053
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Carious teeth, Abnormality of the curvature of the vertebral column, Micrognathia, High palate, H... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Carious teeth, Abnormality of the curvature of the vertebral column, Micrognathia, High palate, H... ORPHA:353277
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Odontogenic neoplasm, Hypophosphatemia, Abnormal dental enamel morphology, Delayed... ORPHA:534
Arnold-Chiari Malformation Type I
Stiff neck, Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Anteriorly placed odontoid... ORPHA:268882
Biliary, Renal, Neurologic, And Skeletal Syndrome
Knee dislocation, Elevated circulating creatinine concentration, Hyperbilirubinemia, Osteopenia, ... OMIM:619534
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Narrow mouth, Hypoalbuminemia OMIM:614748
Holoprosencephaly 9
Bilateral cleft lip and palate, Cleft palate, Short philtrum, Cleft upper lip, Solitary median ma... OMIM:610829
Pmm2-Cdg
Hypoalbuminemia, High palate, Wide mouth, Long philtrum, Mandibular prognathia, Kyphoscoliosis, O... ORPHA:79318
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Vertebral fusion ORPHA:959
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Genu varum, Patellar aplasia, Malar flattening, Fused cervical vertebrae, Hip dislo... OMIM:274000
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Micrognathia, Cleft palate, Wide nasal bridge, Fused cervical vertebrae, Cleft vertebral arch, Co... ORPHA:83617
Chand Syndrome
Cleft palate, Bifid tongue, Abnormal oral frenulum morphology, Commissural lip pit, Agenesis of p... ORPHA:1401
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Micrognathia, High palate, Long philtrum, Macroglossia, Abnormal vertebral morphology, Cervical C... ORPHA:444077
Bloom Syndrome
Agenesis of maxillary lateral incisor, Malar flattening OMIM:210900
Duane-Radial Ray Syndrome
Spina bifida occulta, Scoliosis, Fused cervical vertebrae OMIM:607323
Lacrimoauriculodentodigital Syndrome
Carious teeth, Conical incisor, Hypodontia, Aplasia of the parotid gland, Absence of Stensen duct... OMIM:149730
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Enamel-Renal Syndrome
Gingival overgrowth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Delayed eruption... ORPHA:1031
Microphthalmia, Syndromic 1
High, narrow palate, High palate, Cleft upper lip, Kyphoscoliosis, Tooth malposition, Joint contr... OMIM:309800
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Abnormal hip joint morphology, Stippled calcification... ORPHA:51608
Kinsship Syndrome
Widely spaced teeth, Thick lower lip vermilion, Micrognathia, Smooth philtrum, Wide mouth, Short ... OMIM:619297

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 Aff3

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 Aff3.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Aff3tm1a(EUCOMM)Wtsi