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Gene: Sh3pxd2a MGI:1298393

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Gene Summary

Name:
SH3 and PX domains 2A
Synonyms:
Sh3md1,  2310014D11Rik,  Fish,  Tks5

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
preweaning lethality, complete penetrance Sh3pxd2atm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating alkaline phosphatase level Sh3pxd2atm1b(EUCOMM)Wtsi HET Early adult 5.54×10-08

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Legacy Phenotype Associated Images
Sh3pxd2atm1b(EUCOMM)Wtsi
HET, Female, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
HET, Female, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
HET, Female, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
HET, Female, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
HET, Female, WTSI

View all 85 images

Sh3pxd2atm1b(EUCOMM)Wtsi
abnormal snout morphology, upturned snout, head, HET, Male, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
abnormal snout morphology, asymmetric snout, head, HET, Male, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
abnormal snout morphology, asymmetric snout, head, HET, Male, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
head, abnormal snout morphology, asymmetric snout, HET, Male, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
abnormal snout morphology, head, upturned snout, HET, Female, WTSI

View all 6 images

Sh3pxd2atm1b(EUCOMM)Wtsi
HOM, Male, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
HOM, Female, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
HOM, Female, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
HOM, Female, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
HOM, Female, WTSI

View all 6 images

Sh3pxd2atm1b(EUCOMM)Wtsi
abnormal pupil morphology, HET, Male, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
persistence of hyaloid vascular system, HET, Female, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
abnormal cornea morphology, HET, Female, WTSI

Human diseases caused by Sh3pxd2a 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 Sh3pxd2a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Hemochromatosis, Type 5
Increased circulating ferritin concentration OMIM:615517
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Syngnathia
Cleft palate OMIM:119550
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia OMIM:606713
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Cleft palate, Bifid uvula OMIM:258320
Van Der Woude Syndrome 1
Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Bifid uvula OMIM:119300
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Cleft palate, Bifid uvula OMIM:303400
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Sandal gap, Oligodontia of primary teeth, Short hallux, No permanent dentition OMIM:216300
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Short distal phalanx of hallux, Bifid distal phalanx of the thumb, Partial duplication of the dis... OMIM:256200
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid... ORPHA:2669
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Dysphagia, Velopharyngeal insufficiency OMIM:617732
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency ORPHA:99772
Intellectual Developmental Disorder, X-Linked 90
High palate, Narrow chest, Bifid uvula OMIM:300850
Arthrogryposis, Distal, Type 1C
Shoulder flexion contracture, Cleft palate, Adducted thumb, Rocker bottom foot, High palate, Thin... OMIM:619110
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Anencephaly 2
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Multiple Epiphyseal Dysplasia, Lowry Type
Small epiphyses, Fragmented epiphyses, Abnormal sternum morphology, Epiphyseal dysplasia, Delayed... ORPHA:166016
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Metaphyseal dysplasia, Short iliac bones, Irregular acetabular roof, C... ORPHA:93316
Satb2-Associated Syndrome Due To A Pathogenic Variant
Dysphagia, Smooth philtrum, Cleft palate, High palate, Celiac disease, Long philtrum, Drooling, B... ORPHA:576283
Adducted Thumbs Syndrome
High, narrow palate, Dysphagia, Cleft palate, High palate, Velopharyngeal insufficiency OMIM:201550
Schneckenbecken Dysplasia
Anterior rib cupping, Cleft palate, Lateral clavicle hook, Hypoplastic scapulae, Metaphyseal irre... OMIM:269250
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Orofaciodigital Syndrome V
Aganglionic megacolon, Cleft palate, Bifid uvula, Postaxial foot polydactyly, Postaxial hand poly... OMIM:174300
Orofaciodigital Syndrome Type 5
High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... ORPHA:2919
Zimmermann-Laband Syndrome 3
Thick lower lip vermilion, High palate, Triphalangeal thumb, Gingival overgrowth, Bifid uvula, Lo... OMIM:618658
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... ORPHA:199306
Orofaciodigital Syndrome Iii
Pectus excavatum, Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Short sternum, B... OMIM:258850
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Long philtrum, Cleft soft palate, Gingival overgrowth, Partial duplication of th... OMIM:616331
Spastic Paraplegia 81, Autosomal Recessive
Cleft palate, Bifid uvula OMIM:618768
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula, Acetabular erosions OMIM:601492
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Cleft palate, Bifid uvula ORPHA:2521
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Unilateral cleft lip, Cleft palate, Bifid uvula ORPHA:2736
Stickler Syndrome, Type Ii
High, narrow palate, Cleft palate, Pierre-Robin sequence, Long fingers, Arachnodactyly, Bifid uvula OMIM:604841
Acropectorovertebral Dysplasia
Tarsal synostosis, High, narrow palate, Pectus excavatum, Cleft palate, Triphalangeal thumb, Syno... ORPHA:957
Limb-Mammary Syndrome
Hallux valgus, Hypodontia, Cleft palate, Bifid uvula, Split hand, Syndactyly, Camptodactyly, Spli... OMIM:603543
Coffin-Siris Syndrome 11
High palate, Wide mouth, Cleft soft palate, Small hand, Esophageal atresia, Bifid uvula, Downturn... OMIM:618779
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Widely spaced teeth, High palate, Cone-shaped epiphysis, Microdontia, Wide mouth, Macroglossia, A... OMIM:266920
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Hypodontia, Tapered finger, Glossoptosis, Short foot, Short distal phalanx o... ORPHA:3201
Van Der Woude Syndrome
Abnormal salivary gland morphology, Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Lip... ORPHA:888
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Toe syndactyly, 2-3 toe syndactyly, Short middle phalanx of finger, Short poin... OMIM:263540
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Cleft palate, Bifid uvula ORPHA:506353
Arthrogryposis, Distal, Type 3
Cutaneous finger syndactyly, Pectus excavatum, Cleft palate, High palate, Submucous cleft hard pa... OMIM:114300
Temple Syndrome
Cleft palate, High palate, Short philtrum, Small hand, Bifid uvula, Short foot, Clinodactyly OMIM:616222
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft lip, High palate, Bifid uvula OMIM:155145
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Desbuquois Dysplasia 2
Monkey wrench femoral neck, Genu varum, Cleft palate, Epiphyseal dysplasia, Toe clinodactyly, Sho... OMIM:615777
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Hypodontia, High palate, Flat capital femoral epiphysis, Tapered finger, Dislocated radial head, ... OMIM:612350
Birk-Barel Syndrome
Dysphagia, High palate, Short philtrum, Bifid uvula, Tented upper lip vermilion, Submucous cleft ... OMIM:612292
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated alpha-fetoprotein OMIM:615970
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence, Aplasia/Hypoplasia... OMIM:192445
Temple Syndrome
Polyphagia, Small hand, Bifid uvula, Short foot, Clinodactyly of the 5th finger ORPHA:254516
Moebius Syndrome
Dysphagia, High palate, Lower limb undergrowth, Bifid uvula, Aplasia/Hypoplasia involving the met... OMIM:157900
Cree Mental Retardation Syndrome
Cutaneous finger syndactyly, Pectus excavatum, Rocker bottom foot, Cleft soft palate, Aplasia/Hyp... OMIM:606851
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Polysyndactyly of hallux, Long philtrum, Cleft soft palate, A... ORPHA:2756
Orofaciodigital Syndrome Type 3
Pectus excavatum, Irregular dentition, Hamartoma of tongue, Bifid uvula, Short sternum, Thoracic ... ORPHA:2752
Oculofaciocardiodental Syndrome
Abnormal palate morphology, 2-3 toe syndactyly, Cleft palate, Oligodontia, Hammertoe, Long philtr... ORPHA:2712
Childhood Apraxia Of Speech
Submucous cleft hard palate, High, narrow palate, Drooling ORPHA:209908
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Burn-Mckeown Syndrome
2-3 toe syndactyly, Cleft palate, Short philtrum, Cleft upper lip, Thin vermilion border, Bifid u... OMIM:608572
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Smooth philtrum, Death in infancy, Adducted thumb, Rocker bottom foot, Short philtrum, Thin vermi... OMIM:618622
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Enlar... OMIM:186500
Brachycephaly, Trichomegaly, And Developmental Delay
Thick lower lip vermilion, High palate, Submucous cleft hard palate, Supernumerary tooth, Thin ve... OMIM:617412
Kleefstra Syndrome 2
Bifid uvula, Everted lower lip vermilion OMIM:617768
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, Cleft palate, High palate, Short philtrum, Small hand, Bifid uvula, Short foot,... ORPHA:96184
Otospondylomegaepiphyseal Dysplasia
Tibial bowing, Fibular bowing, Cleft palate, Epiphyseal dysplasia, Abnormality of long bone morph... ORPHA:1427
Pai Syndrome
Median cleft lip, Cleft palate, Bifid uvula, Abnormal oral frenulum morphology ORPHA:1993
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
2-3 toe syndactyly, Cleft palate, Smooth philtrum, Pectus carinatum, Long philtrum, Enamel agenes... OMIM:614701
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Unilateral cleft lip, Unilateral cleft palate, Supernumerary ribs, Scapular win... OMIM:619122
Chromosome 17Q12 Duplication Syndrome
Smooth philtrum, Cleft soft palate, Esophageal atresia, Broad thumb, Brachydactyly OMIM:614526
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Bifid uvula, Slender finger, Broad philtrum, Contracture of the proximal int... ORPHA:2872
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth, Triphalangeal thumb, Brachydactyly OMIM:604757
Stickler Syndrome, Type I
Pectus excavatum, Cleft palate, Pierre-Robin sequence, Arachnodactyly, Bifid uvula, Abnormality o... OMIM:108300
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula, Absent thumb OMIM:619239
Schilbach-Rott Syndrome
Bifid uvula, 2-3 toe cutaneous syndactyly, Narrow mouth, 3-4 finger cutaneous syndactyly, Clinoda... OMIM:164220
Cerebrocostomandibular Syndrome
Thoracic hypoplasia, High palate, Long philtrum, Cleft soft palate, Congenital hip dislocation, G... OMIM:117650
Zimmermann-Laband Syndrome
Hallux valgus, Hypodontia, Cleft palate, High palate, Overtubulated long bones, Wide mouth, Macro... ORPHA:3473
Sternum, Premature Obliteration Of Sutures Of
Short sternum, Premature sternal synostosis OMIM:184800
Buratti-Harel Syndrome
High palate, Velopharyngeal insufficiency, Bifid uvula, Broad hallux, Broad thumb, Clinodactyly o... OMIM:619314
Robin Sequence With Cleft Mandible And Limb Anomalies
Tibial deviation of toes, Cleft palate, High palate, Pierre-Robin sequence, Fibular hypoplasia, P... OMIM:268305
Rapp-Hodgkin Syndrome
Hypodontia, Cleft palate, Microdontia, Cleft upper lip, Velopharyngeal insufficiency, Bifid uvula... OMIM:129400
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Cleft palate, Smooth philtrum, Postaxial polydactyly, Long philtrum, Broad di... ORPHA:404440
Orofaciodigital Syndrome Type 2
Cleft palate, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Finger syndactyly, Broad... ORPHA:2751
Congenital Disorder Of Glycosylation, Type Id
High palate, Villous atrophy, Adducted thumb, Long fingers, Clinodactyly of the 5th toe, Bifid uv... OMIM:601110
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Cleft palate, Bifid uvula OMIM:300958
Amish Lethal Microcephaly
Cleft soft palate, Death in infancy ORPHA:99742
W Syndrome
Metatarsus adductus, Radial bowing, Agenesis of maxillary central incisor, Upper lip pit, Broad u... ORPHA:2804
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Cleft palate, Asymmetry of the thorax, Abnormality of the metaphysis, Delaye... ORPHA:2780
Tetrasomy 12P
Long philtrum, Thick upper lip vermilion, Delayed eruption of teeth, Anal atresia, Abnormal soft ... ORPHA:884
Diamond-Blackfan Anemia 6
Cleft palate, Triphalangeal thumb, Cleft upper lip, Bifid uvula, Short thumb OMIM:612561
Auriculocondylar Syndrome
Mandibular condyle aplasia, Cleft palate, Dental crowding, Hamartoma of tongue, Microglossia, Bif... ORPHA:137888
Pallister W Syndrome
Metatarsus adductus, Agenesis of central incisor, Radial bowing, Agenesis of maxillary central in... OMIM:311450
Loeys-Dietz Syndrome 5
Pectus excavatum, Cleft palate, Smooth philtrum, Flexion contracture of toe, Congenital finger fl... OMIM:615582
Autosomal Recessive Centronuclear Myopathy
High palate, Long fingers, Bifid uvula, Narrow mouth, Scapular winging ORPHA:169186
Hydrolethalus
Cleft palate, Gingival cleft, Bifid uvula, Unilateral cleft lip, Postaxial hand polydactyly, Subm... ORPHA:2189
Cri-Du-Chat Syndrome
Thick lower lip vermilion, Metatarsus adductus, High palate, Short philtrum, Short metatarsal, Bi... OMIM:123450
Spondyloepiphyseal Dysplasia Congenita
Cleft palate, Pierre-Robin sequence, Pectus carinatum, Delayed calcaneal ossification, Bifid uvul... OMIM:183900
Dysosteosclerosis
Broad femoral neck, Abnormal metaphyseal trabeculation, High palate, Diaphyseal thickening, Prema... OMIM:224300
Emanuel Syndrome
Dysphagia, High palate, Cleft palate, Ectopic anus, Long philtrum, Submucous cleft lip, Tooth mal... ORPHA:96170
Myhre Syndrome
Abnormal lip morphology, Cleft palate, Abnormality of epiphysis morphology, Gingival cleft, Thin ... ORPHA:2588
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
2-3 toe syndactyly, Adducted thumb, Short philtrum, Long philtrum, Proximal placement of thumb, D... OMIM:619121
Osteopathia Striata With Cranial Sclerosis
Cleft palate, Pierre-Robin sequence, Camptodactyly, High palate, Osteopathia striata, Fibular hyp... OMIM:300373
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Thick lower lip vermilion, High, narrow palate, Pectus excavatum, Cleft palate, Smooth philtrum, ... OMIM:309583
Megalocornea-Mental Retardation Syndrome
Dysphagia, High palate, Long philtrum, Bifid uvula, Arachnodactyly, Genu valgum OMIM:249310
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cleft palate, Macroglossia, Bifid uvula, Protruding tongue, Brachydactyly OMIM:612938
Limb-Mammary Syndrome
Toe syndactyly, Hypodontia, Cleft palate, Bifid uvula, Cleft lip, Syndactyly, 3-4 finger cutaneou... ORPHA:69085
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Cleft palate, Smooth philtrum, Pierre-Robin sequence, Oligodontia, Short finger, Aplasia of the d... OMIM:608670
Hypomandibular Faciocranial Dysostosis
Cleft palate, Death in infancy, Aplasia/Hypoplasia of the tongue, Bifid uvula, Narrow mouth ORPHA:1790
Loeys-Dietz Syndrome 4
High, narrow palate, High palate, Abnormal sternum morphology, Arachnodactyly, Bifid uvula, Eosin... OMIM:614816
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Smooth philtrum, High palate, Long philtrum, Submucous cleft hard palate, Sm... OMIM:612863
Hyperphosphatasia-Intellectual Disability Syndrome
Pectus excavatum, High palate, Aganglionic megacolon, Short philtrum, Shortening of all distal ph... ORPHA:247262
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Widely spaced teeth, Hypodontia, Cleft palate, Abnormal dental enamel morphology, Delayed eruptio... ORPHA:1071
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Long philtrum, Thin vermilion border, Small hand, Bifid uvula, Short foot, Short palm OMIM:241410
Renal Dysplasia-Limb Defects Syndrome
Fibular aplasia, High palate, Thin ribs, Phocomelia, Aplasia of the ulna, Neonatal death, Thin ve... OMIM:266910
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Cleft palate, Smooth philtrum, Tapered finger, Postaxial polydactyly, Long philtrum, Small hand, ... OMIM:300968
8Q22.1 Microdeletion Syndrome
Long philtrum, Sandal gap, Finger syndactyly, Camptodactyly of finger, Abnormality of the dentiti... ORPHA:178303
15Q Overgrowth Syndrome
High, narrow palate, Smooth philtrum, High palate, Abnormal coccyx morphology, Abnormal sternum m... ORPHA:314585
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Submucous cleft hard palate, Broad distal phalanx of finger, Bifid uvula, Delayed eruption of tee... OMIM:300990
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypoplasia of the tooth germ, Bifid uvula, Genu valgum, Sprengel anomaly, Broad hallux, Contractu... ORPHA:293967
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Short clavicles, Cleft palate, Pectus carinatum, Bowing of the long bones, Dislocated radial head... OMIM:130070
Steinfeld Syndrome
Phocomelia, Aplasia/Hypoplasia of the thumb, Median cleft lip and palate, Missing ribs, Bifid uvu... OMIM:184705
Camptodactyly Syndrome, Guadalajara, Type I
Hallux valgus, Short metatarsal, Toe syndactyly, High palate, Pectus carinatum, Fibular hypoplasi... OMIM:211910
Apert Syndrome
Pyloric stenosis, Cutaneous finger syndactyly, Cleft palate, Ectopic anus, Synostosis of carpal b... OMIM:101200
Chromosome 18Q Deletion Syndrome
Toe syndactyly, Cleft palate, Short philtrum, Rocker bottom foot, U-Shaped upper lip vermilion, C... OMIM:601808
Branchiootorenal Syndrome 1
High palate, Cleft palate, Microdontia, Congenital hip dislocation, Intestinal malrotation, Bifid... OMIM:113650
Orofaciodigital Syndrome Type 4
Genu varum, Cleft palate, Finger syndactyly, Camptodactyly of finger, Perineal fistula, Anal atre... ORPHA:2753
Branchioskeletogenital Syndrome
Carious teeth, Pectus excavatum, Premature loss of teeth, Short philtrum, Thin vermilion border, ... ORPHA:1299
Ear-Patella-Short Stature Syndrome
High, narrow palate, Cleft palate, Patellar aplasia, Abnormality of epiphysis morphology, Aplasti... ORPHA:2554
Progeria-Short Stature-Pigmented Nevi Syndrome
Hypodontia, Bifid uvula, Selective tooth agenesis, Short distal phalanx of finger, Dental maloccl... ORPHA:2959
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Duodenal atresia, Esophageal atresia, Sprengel anomaly, Tracheoesophageal fistu... OMIM:619227
1Q41Q42 Microdeletion Syndrome
Cleft palate, Submucous cleft hard palate, Thick vermilion border ORPHA:250999
Frontometaphyseal Dysplasia 2
Pyloric stenosis, Pectus excavatum, Cleft palate, High palate, Pierre-Robin sequence, Short philt... OMIM:617137
Apert Syndrome
Toe syndactyly, Cleft palate, Ectopic anus, Aplasia/Hypoplasia of the thumb, Esophageal atresia, ... ORPHA:87
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Cleft palate, Wide mouth, Symphalangism affecting the phalanges of the hand,... ORPHA:2658
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Smooth philtrum, Short philtrum, Adducted thumb ORPHA:293725
Coffin-Lowry Syndrome
Widely spaced teeth, Pectus excavatum, Rectal prolapse, Hypodontia, High palate, Pectus carinatum... OMIM:303600
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Thick lower lip vermilion, Wide mouth, Unilateral cleft lip, Unilateral cleft palate, Submucous c... OMIM:619103
Prader-Willi Syndrome Due To Translocation
Carious teeth, Cleft palate, High palate, Wide mouth, Triangular-shaped open mouth, Microdontia o... ORPHA:177907
Elsahy-Waters Syndrome
Thick lower lip vermilion, Pectus excavatum, High palate, Long philtrum, Bifid uvula, Delayed eru... OMIM:211380
Branchiogenic-Deafness Syndrome
Submucous cleft hard palate, Short distal phalanx of finger OMIM:609166
Meckel Syndrome 12
Bifid uvula, Rocker bottom foot OMIM:616258
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Pectus excavatum, High palate, Bifid uvula OMIM:300472
Cardiofaciocutaneous Syndrome 1
Pectus excavatum, Shield chest, High palate, Pectus carinatum, Open bite, Submucous cleft hard pa... OMIM:115150
Baller-Gerold Syndrome
Aplasia of metacarpal bones, Rib fusion, Cleft palate, High palate, Perineal fistula, Carpal bone... OMIM:218600
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Pyloric stenosis, High palate, Long philtrum, Impaired mastication, Congenital hip dislocation, T... ORPHA:457279
Walker-Warburg Syndrome
Metatarsus valgus, Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:899
Native American Myopathy
High palate, Cleft palate, Bifid uvula, Downturned corners of mouth, Submucous cleft soft palate,... ORPHA:168572
Craniolenticulosutural Dysplasia
Carious teeth, Cleft palate, Smooth philtrum, Wide mouth, Long philtrum, Bifid uvula, Delayed eru... OMIM:607812
Dubowitz Syndrome
Toe syndactyly, Pectus excavatum, Metatarsus adductus, Rectal prolapse, High palate, Wide mouth, ... ORPHA:235
Desmosterolosis
Metatarsus adductus, Cleft palate, Bifid uvula, Intestinal malrotation, Narrow mouth, Submucous c... ORPHA:35107
Hereditary Angioedema Type 1
Tongue edema, Dysphagia, Intestinal edema, Abnormality of salivation, Abnormal soft palate morpho... ORPHA:100050
Holoprosencephaly 3
Cleft lip, Solitary median maxillary central incisor, Cleft palate, Bifid uvula OMIM:142945
Frontometaphyseal Dysplasia
Cleft palate, Oligodontia, Metaphyseal widening, Short metatarsal, Long fingers, Dislocated radia... ORPHA:1826
Opitz Gbbb Syndrome, Type Ii
Dysphagia, Cleft palate, High palate, Smooth philtrum, Short lingual frenulum, Cleft upper lip, B... OMIM:145410
Marden-Walker Syndrome
Pyloric stenosis, Metatarsus adductus, Pectus excavatum, Cleft palate, Pectus carinatum, Arachnod... ORPHA:2461
Double Outlet Right Ventricle
Cleft palate, Narrow mouth, Submucous cleft hard palate, Intestinal malrotation ORPHA:3426
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Cleft palate, Bifid uvula OMIM:617660
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cleft palate, Failure of eruption of permanent teeth, Tooth malposition, Bifid uvula, Submucous c... ORPHA:2250
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cleft palate, High palate, Oligodontia, Macroglossia, Furrowed tongue, Bifid uvula, Downturned co... ORPHA:453499
Lacrimoauriculodentodigital Syndrome
Carious teeth, Abnormal dental enamel morphology, Hypoplasia of the radius, Finger syndactyly, Sy... ORPHA:2363
Neu-Laxova Syndrome
Cleft palate, Abnormality of the philtrum, Bifid uvula, Abnormality of the mouth, Everted lower l... ORPHA:2671
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Cleft palate, Open bite, Postaxial polydactyly, Macroglossia, Exaggerated me... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Cleft palate, Open bite, Postaxial polydactyly, Macroglossia, Exaggerated me... ORPHA:352665
Craniorachischisis
Bifid sternum, Anal atresia ORPHA:63260
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Pectus excavatum, Microdontia, Wide mouth, Macroglossia, Broad distal phalanx of finger, Deep phi... OMIM:619194
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Widely spaced teeth, Pectus excavatum, Smooth philtrum, High palate, Pectus carinatum, Long philt... OMIM:617506
Trisomy 8P
Cleft palate, Short fifth metatarsal, Thin vermilion border, Clinodactyly of the 5th toe, Bifid u... ORPHA:264450
Meester-Loeys Syndrome
Abnormal sternum morphology, Bifid uvula, Camptodactyly OMIM:300989
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bifid femur, Cleft palate, Submucous cleft hard palate, Aplastic clavicle, Abnormality of the met... ORPHA:2636
Zttk Syndrome
High palate, Short philtrum, Small hand, Thin vermilion border, Bifid uvula, Short foot, Cervical... OMIM:617140
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Widely spaced teeth, Hallux valgus, Pectus excavatum, Short 5th toe, Pyloric stenosis, Polydactyl... ORPHA:268261
Alpha-Fetoprotein Deficiency
Decreased levels of alpha-fetoprotein OMIM:615969
Treacher Collins Syndrome 1
Cleft palate, Wide mouth, Cleft soft palate, Abnormal parotid gland morphology, Narrow mouth OMIM:154500
Restrictive Dermopathy 1
Thin clavicles, Increased anterioposterior diameter of thorax, Overtubulated long bones, Rocker b... OMIM:275210
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bifid uvula, Enamel hypoplasia, Abnormality of the dentition, Wide mouth OMIM:615802
Dubowitz Syndrome
Carious teeth, High palate, Velopharyngeal insufficiency, Delayed eruption of teeth, Syndactyly, ... OMIM:223370
Loeys-Dietz Syndrome
Pectus excavatum, High palate, Pectus carinatum, Arachnodactyly, Bifid uvula, Camptodactyly of fi... ORPHA:60030
Blackfan-Diamond Anemia
High palate, Triphalangeal thumb, Cleft soft palate, Adenocarcinoma of the colon, Sprengel anomal... ORPHA:124
Velocardiofacial Syndrome
Cleft palate, Pierre-Robin sequence, Velopharyngeal insufficiency, Open mouth, Submucous cleft ha... OMIM:192430
Viss Syndrome
Submucous cleft soft palate, High palate, Rocker bottom foot, Pectus carinatum, Celiac disease, C... OMIM:619472
Alg9-Cdg
Broad ischia, Smooth philtrum, Villous atrophy, Radial deviation of the thumb, Wide mouth, Long p... ORPHA:79328
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate OMIM:614557
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Widely spaced teeth, Hallux valgus, High, narrow palate, Wide mouth, Short philtrum, Synostosis o... OMIM:300967
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Cleft palate, Pierre-Robin sequence OMIM:614921
Holoprosencephaly 13, X-Linked
Cleft palate, Duodenal atresia, Submucous cleft hard palate, Solitary median maxillary central in... OMIM:301043
Tetrasomy 9P
Cleft palate, High palate, Short philtrum, Hypoplastic scapulae, Median cleft lip and palate, Mis... ORPHA:3310
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Cleft soft palate, Submucous cleft soft palate ORPHA:2282
Cardiofaciocutaneous Syndrome
Abnormality of the ulna, High palate, Pectus excavatum, Long philtrum, Genu valgum, Submucous cle... ORPHA:1340
Holoprosencephaly 2
Bifid uvula, Solitary median maxillary central incisor, Submucous cleft hard palate, Median cleft... OMIM:157170
Microphthalmia, Syndromic 2
2-3 toe syndactyly, Oligodontia, Hammertoe, Long philtrum, Submucous cleft hard palate, Supernume... OMIM:300166
Chromosome 1P36 Deletion Syndrome, Distal
Metatarsus adductus, Dysphagia, High palate, Bifid ribs, Long philtrum, Submucous cleft hard pala... OMIM:607872
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Pyloric stenosis, Hallux valgus, Cleft palate, Delayed eruption of teeth, Syndactyly, Long hallux... ORPHA:261537
Loeys-Dietz Syndrome 2
Pectus excavatum, Cleft palate, Pectus carinatum, Postaxial polydactyly, Abnormal sternum morphol... OMIM:610168
Mowat-Wilson Syndrome
Pyloric stenosis, Hallux valgus, Cleft palate, Delayed eruption of teeth, Syndactyly, Broad hallu... ORPHA:2152
Ring Chromosome 7 Syndrome
Cleft palate, Short philtrum, Small hand, Thin vermilion border, Short 5th finger, Genu valgum, 3... ORPHA:1449
Loeys-Dietz Syndrome 1
Cleft palate, Abnormal sternum morphology, Arachnodactyly, Bifid uvula, Eosinophilic infiltration... OMIM:609192
Trichohepatoenteric Syndrome 1
Villous atrophy, Wide mouth, Long philtrum, Bifid uvula, Narrow mouth OMIM:222470
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dysphagia, High palate, Dental crowding, Esophageal varix, Wide mouth, Tapered finger, Cleft soft... OMIM:619503
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysphagia, Cleft palate, Smooth philtrum, Short philtrum, Thin vermilion border, Arachnodactyly, ... ORPHA:500150
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Smooth philtrum, Cleft soft palate, Intestinal malrotation, Genu valgum, Downturned corners of mouth OMIM:619321
Aneurysm-Osteoarthritis Syndrome
Pectus excavatum, Cleft palate, High palate, Pectus carinatum, Arachnodactyly, Bifid uvula, Osteo... ORPHA:284984
Pallister-Hall Syndrome
Polydactyly affecting the 4th finger, Cleft palate, Broad toe, Accessory oral frenulum, Microglos... ORPHA:672
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Pyloric stenosis, Hallux valgus, Cleft palate, Delayed eruption of teeth, Syndactyly, Long hallux... ORPHA:261552
Semilobar Holoprosencephaly
Dysphagia, Cleft palate, High palate, Solitary median maxillary central incisor, Bifid uvula, Hip... ORPHA:220386
Alobar Holoprosencephaly
Dysphagia, Cleft palate, High palate, Solitary median maxillary central incisor, Bifid uvula, Hip... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Dysphagia, Cleft palate, High palate, Solitary median maxillary central incisor, Bifid uvula, Hip... ORPHA:93926
Lobar Holoprosencephaly
Dysphagia, Cleft palate, High palate, Solitary median maxillary central incisor, Bifid uvula, Hip... ORPHA:93924
Tolchin-Le Caignec Syndrome
High palate, Arachnodactyly, Narrow mouth, Clinodactyly of the 5th finger, Submucous cleft hard p... OMIM:618971
Van Esch-O'Driscoll Syndrome
Bifid uvula OMIM:301030
Neuroocular Syndrome
Widely spaced teeth, Pectus excavatum, Hyperextensibility of the finger joints, Tapered finger, S... OMIM:619539
Hardikar Syndrome
Bilateral cleft lip and palate, Esophageal varix, Celiac disease, Cleft soft palate, Gastric vari... OMIM:301068
Frontofacionasal Dysplasia
Cleft upper lip, Bifid uvula, Oral cleft OMIM:229400
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Tapered finger, Bifid uvula, Exaggerated cupid's bow, Narrow mouth, Thick vermilion border OMIM:619480
Restrictive Dermopathy
Thoracic kyphoscoliosis, Increased anterioposterior diameter of thorax, Thin clavicles, Thin ribs... ORPHA:1662
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Neoplasm of the tongue, Bifid uvula, Camptodactyly of finger, Clinodactyly of the 5th finger, Sub... ORPHA:3047
Coffin-Siris Syndrome 12
Pectus excavatum, High palate, Celiac disease, Velopharyngeal insufficiency, Slender finger, Hip ... OMIM:619325
Aprosencephaly And Cerebellar Dysgenesis
Bifid uvula OMIM:601374
Wiedemann-Rautenstrauch Syndrome
Submucous cleft soft palate, 2-3 toe syndactyly, Premature loss of teeth, Hypodontia, Short philt... ORPHA:3455
Pallister-Killian Syndrome
Cleft palate, Delayed eruption of teeth, 11 pairs of ribs, Thin upper lip vermilion, Short toe, S... OMIM:601803
Mowat-Wilson Syndrome
Pyloric stenosis, Widely spaced teeth, Pectus excavatum, Cleft palate, Aganglionic megacolon, Pec... OMIM:235730
Digeorge Syndrome
High, narrow palate, High palate, Cleft palate, Short philtrum, Bifid uvula OMIM:188400
Microphthalmia, Syndromic 6
Toe syndactyly, Short middle phalanx of finger, Cleft palate, Polydactyly, High palate, Flexion c... OMIM:607932
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate OMIM:618891
Loeys-Dietz Syndrome 3
Cleft palate, High palate, Pectus carinatum, Abnormal sternum morphology, Arachnodactyly, Bifid u... OMIM:613795

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 Sh3pxd2a

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 Sh3pxd2a.

There are 6 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) Sh3pxd2atm1b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Sh3pxd2atm1b(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Sh3pxd2atm1b(EUCOMM)Wts