Gene Summary

Name:
solute carrier family 13 (sodium/sulfate symporters), member 4
Synonyms:
9630060C05Rik,  SUT1,  SUT-1

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
abnormal bone structure Slc13a4em1(IMPC)Hmgu HET Early adult 8.78×10-05
preweaning lethality, complete penetrance Slc13a4em1(IMPC)Hmgu HOM   Early adult 5.67×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Slc13a4 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 Slc13a4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Cleft upper lip, Chorioretinal coloboma, Iris coloboma, Cleft palate OMIM:120433
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Kahrizi Syndrome
Cataract, Elbow contracture, Knee flexion contracture, Thick vermilion border, Iris coloboma OMIM:612713
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Chorioretinal coloboma, Bilateral cleft palate, Posterior embryotoxon, Corneal opacity,... ORPHA:1473
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Loose Anagen Syndrome
Abnormal hair morphology, Abnormal hair whorl, Iris coloboma ORPHA:168
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Iris coloboma, White forelock, Chorioretinal coloboma OMIM:601706
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Camptodactyly of finger, Abnormal oral frenulum morphology... ORPHA:1617
Terminal Osseous Dysplasia
Camptodactyly of finger, Accessory oral frenulum, Multiple joint contractures, Camptodactyly of t... OMIM:300244
Abruzzo-Erickson Syndrome
Microcornea, Chorioretinal coloboma, Abnormal palate morphology, Radioulnar synostosis, Coloboma,... ORPHA:921
Oculofaciocardiodental Syndrome
Cataract, Microcornea, Tooth malposition, Ectopia lentis, Delayed eruption of teeth, Long philtru... ORPHA:2712
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Congestive heart failure, Ascites, Astigmatis... OMIM:253250
Otodental Syndrome
Cataract, Microcornea, Carious teeth, Periodontitis, Delayed eruption of teeth, Abnormality of ca... ORPHA:2791
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Coloboma, Peters anomaly, Ocular anterior segment dysgenesis OMIM:610023
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Restrictive cardiomyopathy, Mitral regurgitation, Hypoplasia of teeth, Osteolysis invol... ORPHA:88630
Microphthalmia, Syndromic 13
Microcornea, Iris coloboma, Widely-spaced incisors, Chorioretinal coloboma OMIM:300915
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma OMIM:614497
Renpenning Syndrome
High, narrow palate, Cataract, Alopecia, Abnormal hairshaft morphology, Macrodontia, Joint stiffn... ORPHA:3242
Microphthalmia/Coloboma 4
Microcornea, Coloboma OMIM:251505
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft upper lip, Coloboma, Cleft palate OMIM:600251
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Microphthalmia/Coloboma 5
Orofacial cleft, Iris coloboma, Chorioretinal coloboma OMIM:611638
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Iris coloboma, Cervical C3/C4 vertebral fusion, Chorioretinal co... OMIM:613702
Cat-Eye Syndrome (Type I)
Anal atresia, Iris coloboma DECIPHER:42
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Microcornea, Iris coloboma, Patent ductus arteriosus OMIM:615147
Hypomelanosis Of Ito
Cataract, Alopecia, Thick lower lip vermilion, Irregularly spaced teeth, Iris coloboma OMIM:300337
Abruzzo-Erickson Syndrome
Radioulnar synostosis, Coloboma, Cleft palate OMIM:302905
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Reduced bone mineral density, Hypophosphatemia, Iris colobo... ORPHA:2611
Temtamy Syndrome
Chorioretinal coloboma, Thick lower lip vermilion, Abnormal palate morphology, Joint hypermobilit... ORPHA:1777
Unilateral Ocular Duplication
Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Midline facial cleft, Enceph... ORPHA:3374
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft upper lip, Bifid uvula, High palate, Iris coloboma OMIM:155145
Biemond Syndrome Ii
Iris coloboma OMIM:210350
Frontofacionasal Dysplasia
Tessier cleft, Cataract, Microcornea, Limbal dermoid, Absent inner eyelashes, Encephalocele, Apla... ORPHA:1791
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Coloboma, Pulp calci... OMIM:166750
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Pallor, Abnormality of venous physio... ORPHA:90064
Anophthalmia Plus Syndrome
Tessier cleft, Bilateral cleft palate, Spina bifida, Iris coloboma, Non-midline cleft of the uppe... ORPHA:1104
Triploidy
Cataract, Intestinal malrotation, Wide mouth, Narrow mouth, Decreased skull ossification, Polyhyd... ORPHA:3376
Cat-Eye Syndrome
Anal atresia, Iris coloboma, Chorioretinal coloboma ORPHA:195
Pai Syndrome
Bifid uvula, Encephalocele, Median cleft upper lip, Abnormal oral frenulum morphology, Iris colob... ORPHA:1993
Humero-Radial Synostosis
Limitation of joint mobility, Chorioretinal coloboma, Elbow ankylosis, Meningocele, Tarsal synost... ORPHA:3265
Branchio-Oculo-Facial Syndrome
Cataract, Microcornea, Upper lip pit, Tooth agenesis, Premature graying of hair, Microdontia, Oro... ORPHA:1297
Temtamy Syndrome
Aortic regurgitation, Highly arched eyebrow, Ectopia lentis, Dental crowding, Chorioretinal colob... OMIM:218340
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Orofacial cleft, Coloboma, Ocular anterior segment dysgenesis, Developme... ORPHA:324416
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Abnormal bone structure ORPHA:46532
Dermatitis, Atopic
Keratoconus, Cataract, Dry skin, Pallor, Facial erythema, Conjunctivitis OMIM:603165
Trisomy 13
High, narrow palate, Cataract, Abnormality of the dentition, Long philtrum, Aplasia/Hypoplasia of... ORPHA:3378
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Osteopenia, Cleft upper lip, Tooth agenesis, Iris coloboma, Cleft palate OMIM:147950
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Highly arched eyebrow, Chorioretinal coloboma, Long philtrum, Cleft upper ... OMIM:243310
3Q29 Microduplication Syndrome
Cataract, Abnormality of the dentition, Aniridia, Camptodactyly of toe, Ectopic anus, Deep philtr... ORPHA:251038
Distal Duplication 18Q
Carious teeth, Camptodactyly of finger, Abnormal dental morphology, Abnormal hair pattern, High p... ORPHA:1716
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, High, narrow palate, Microcornea, Delayed eruption of teeth, Macrodontia, ... ORPHA:3214
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Joint Laxity, Short Stature, And Myopia
Umbilical hernia, Iris coloboma, Chorioretinal coloboma, Joint hypermobility OMIM:617662
Hallermann-Streiff Syndrome
Natal tooth, Chorioretinal coloboma, Dry skin, Narrow mouth, Sparse eyelashes, Telangiectasia, Ev... OMIM:234100
Kapur-Toriello Syndrome
Cataract, Joint contracture of the hand, Cleft upper lip, Retinal coloboma, Camptodactyly of fing... OMIM:244300
Congenital Disorder Of Glycosylation, Type Id
Iris coloboma, Joint contracture of the hand, Bifid uvula, Villous atrophy, High palate, Flexion ... OMIM:601110
Frontonasal Dysplasia 1
Cataract, Joint contracture of the hand, Cranium bifidum occultum, Anterior basal encephalocele, ... OMIM:136760
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Osteoporosis, Hypopigmentation of hair, Pallor ORPHA:2786
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Microphthalmia/Coloboma 6
Coloboma OMIM:613703
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Palpebral edema, Ectopia lentis ORPHA:1259
Congenital Disorder Of Glycosylation, Type Ii
Cataract, High palate, Iris coloboma, Joint hypermobility OMIM:607906
Bresek Syndrome
Alopecia, Neonatal death, Aganglionic megacolon, Iris coloboma, Cleft palate ORPHA:85284
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Sclerocornea, High palate, Iris coloboma ORPHA:139471
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Palmoplantar cutis laxa, Spina bifida occulta, Iris coloboma, Cleft palate OMIM:268850
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Downturned corners of mouth, Tricuspid regurgitation, Redundant neck skin, Smooth... OMIM:618652
Laurence-Moon Syndrome
Cataract, Iris coloboma ORPHA:2377
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Optic disc coloboma, Chorioretinal coloboma, Flat cornea, Shallow anterior chamber, ... OMIM:602499
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Goldberg-Shprintzen Megacolon Syndrome
Sparse eyebrow, Aganglionic megacolon, Cleft palate, Iris coloboma, Sparse scalp hair ORPHA:66629
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Cataract, Sparse eyebrow, Dental crowding, Tracheomalacia, Long philtrum, Retinal coloboma, Umbil... OMIM:620654
Crouzon Syndrome
Conjunctivitis, Narrow palate, Iris coloboma, Multiple suture craniosynostosis ORPHA:207
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Atrioventricular block, Iris coloboma, Carpal osteolysis, Pterygium, Osteolysis invol... ORPHA:371428
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Sparse eyebrow, Ankyloglossia, Alopecia of scalp, Bilateral cleft palate, Thin upper lip vermilio... OMIM:618874
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Optic disc coloboma, High palate, Iris coloboma, Patent ductus arteriosus, Cleft palate ORPHA:52055
Hajdu-Cheney Syndrome
Aortic valve stenosis, Periodontitis, Open bite, Dry skin, Narrow mouth, Decreased skull ossifica... ORPHA:955
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma OMIM:618295
Zika Virus Disease
Chorioretinal atrophy, Arthritis, Lens subluxation, Conjunctivitis, Iris coloboma, Edema ORPHA:448237
Nizon-Isidor Syndrome
High, narrow palate, Sparse eyebrow, Downturned corners of mouth, Upper eyelid edema, Narrow mout... OMIM:618872
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Abnormal hair morphology, Abnormality of the dentition, Iris coloboma, Ocular anterior segment dy... OMIM:601427
Congenital Hydrocephalus
Iris coloboma ORPHA:2185
Tetraamelia-Multiple Malformations Syndrome
Cataract, Microcornea, Narrow mouth, Orofacial cleft, Polyhydramnios, Anal atresia, Iris coloboma... ORPHA:3301
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Hyphema, Persistent pupillary... OMIM:221900
Treacher-Collins Syndrome
Open bite, Abnormal hair morphology, Narrow mouth, Encephalocele, Absent eyelashes, High palate, ... ORPHA:861
Donnai-Barrow Syndrome
Intestinal malrotation, Iris coloboma, Widow's peak, Umbilical hernia ORPHA:2143
Microphthalmia/Coloboma 9
Microcornea, Long philtrum, Ocular anterior segment dysgenesis, Sclerocornea, Iris coloboma, Macu... OMIM:615145
Myopathic Ehlers-Danlos Syndrome
High, narrow palate, Ankle flexion contracture, Joint contracture of the hand, Congenital contrac... ORPHA:536516
Microphthalmia, Lenz Type
Cataract, Microcornea, Abnormality of the dentition, Delayed eruption of teeth, Chorioretinal col... ORPHA:568
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Pelvis-Shoulder Dysplasia
Microcornea, Microglossia, Hydranencephaly, Retinal coloboma, Camptodactyly of finger, Facial hir... ORPHA:2839
Kapur-Toriello Syndrome
Retinal coloboma, Intestinal malrotation, Orofacial cleft, Iris coloboma, Patent ductus arteriosus ORPHA:2328
Curry-Jones Syndrome
Optic disc coloboma, Intestinal malrotation, Generalized hirsutism, Craniosynostosis, Iris coloboma ORPHA:1553
Frontorhiny
Cataract, Cranium bifidum occultum, Camptodactyly of finger, Encephalocele, Basal encephalocele, ... ORPHA:391474
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Anterior encephalocele, Bilateral cleft palate, Bilateral cleft l... OMIM:601357
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Intestinal malrotation, Wide mouth, Jejunal atresia, Still... OMIM:243605
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Focal Dermal Hypoplasia
Abnormality of the dentition, Erythema, Alopecia, Coarse metaphyseal trabecularization, Ectopia l... ORPHA:2092
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Hijazi-Reis Syndrome
Iris coloboma, Astigmatism OMIM:301094
Peripheral Cone Dystrophy
Pallor OMIM:609021
Lateral Meningocele Syndrome
High, narrow palate, Craniofacial hyperostosis, Dental crowding, Umbilical hernia, Joint hypermob... ORPHA:2789
Walker-Warburg Syndrome
Cataract, Microcornea, Bifid uvula, Submucous cleft hard palate, Chorioretinal dysplasia, Corneal... ORPHA:899
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Microphthalmia, Isolated 4
Coloboma OMIM:613094
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Buphthalmos, Iris coloboma OMIM:212550
3C Syndrome
Aortic valve stenosis, High, narrow palate, Chorioretinal coloboma, Intestinal malrotation, Ectop... ORPHA:7
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Hypophosphatasia, Adult
Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac... OMIM:146300
Cohen Syndrome
High, narrow palate, Abnormality of the dentition, Aplasia/Hypoplasia of the tongue, Tooth agenes... ORPHA:193
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Long philtrum, Thin upper lip vermilion, Orofacial cleft, Coloboma, Wide m... OMIM:614583
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
Verheij Syndrome
Branchial cyst, Long philtrum, Joint hypermobility, Truncus arteriosus, Thin upper lip vermilion,... OMIM:615583
Cat Eye Syndrome
Anal stenosis, Meckel diverticulum, Volvulus, Chorioretinal coloboma, Umbilical hernia, Intestina... OMIM:115470
White-Sutton Syndrome
Bifid uvula, Downturned corners of mouth, Astigmatism, Joint hypermobility, Short philtrum, Thin ... OMIM:616364
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bifid uvula, Optic disc coloboma, High palate, Iris coloboma, Patent ductus arteriosus OMIM:300472
Microform Holoprosencephaly
Tented upper lip vermilion, Short philtrum, Solitary median maxillary central incisor, Orofacial ... ORPHA:280200
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Long philtrum, Narrow mouth, Astigmatism, Exaggerated cupid's bow, Joint hypermobility, Smooth ph... OMIM:618659
Hajdu-Cheney Syndrome
Osteopenia, Foot acroosteolysis, Short nail, Dental malocclusion, Long philtrum, Umbilical hernia... OMIM:102500
Joubert Syndrome With Ocular Defect
Highly arched eyebrow, Retinal coloboma, Encephalocele, Aganglionic megacolon, Orofacial cleft, I... ORPHA:220493
Oculocerebrocutaneous Syndrome
Tessier cleft, Iris coloboma, Alopecia, Orofacial cleft, Corneal opacity, Wide mouth ORPHA:1647
Joubert Syndrome With Renal Defect
Highly arched eyebrow, Encephalocele, Aganglionic megacolon, Orofacial cleft, Iris coloboma, Clef... ORPHA:220497
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Radioulnar synostosis, Wrist flexion contracture, Glossoptosis, Iris colobom... ORPHA:436003
15Q24 Microdeletion Syndrome
Abnormality of the dentition, High anterior hairline, Long philtrum, Thick lower lip vermilion, M... ORPHA:94065
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma OMIM:274270
Rere-Related Neurodevelopmental Syndrome
Peters anomaly, Chorioretinal coloboma, Astigmatism, Broad eyebrow, Iris coloboma ORPHA:494344
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Oligohydramnios, Pallor, Polyhydramnios, Hydrops fetalis, Pericarditis ORPHA:163596
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Sparse scalp hair, Megalocornea, Narrow mouth, Radioulnar synostosis, Iris... ORPHA:536471
Distal Deletion 13Q
Anal atresia, Iris coloboma, Encephalocele, Anencephaly ORPHA:1590
Cerebrooculonasal Syndrome
Sparse eyebrow, Downturned corners of mouth, Long philtrum, Encephalocele, Sparse eyelashes, Soli... OMIM:605627
Sturge-Weber Syndrome
Pulmonary embolism, Gingival overgrowth, Hyperostosis, Abnormal choroid morphology, Conjunctival ... ORPHA:3205
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Hypertrichosis, Dry skin, Coloboma, Cutis laxa OMIM:612379
Beta-Thalassemia
Skin ulcer, Hypertrophic cardiomyopathy, Pallor, Abnormality of iron homeostasis, Reduced bone mi... ORPHA:848
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Pallor ORPHA:75563
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Highly arched eyebrow, Downturned corners of mouth, Diastema, Umbilical hernia, Long eyelashes, L... ORPHA:329224
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:94080
2Q31.1 Microdeletion Syndrome
Downturned corners of mouth, Optic disc coloboma, Camptodactyly of finger, Long philtrum, Abnorma... ORPHA:251014
Developmental And Epileptic Encephalopathy 93
Iris coloboma OMIM:618012
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Tracheoesophageal fistula, Esophageal atresia, Sclerocornea, Iris coloboma, Patent ductus arteriosus ORPHA:77298
Trisomy 18
Cataract, Microcornea, Narrow palate, Camptodactyly of finger, Oligohydramnios, Narrow mouth, Ane... ORPHA:3380
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Triple A Syndrome
Iris coloboma ORPHA:869
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Coloboma, Osteopetrosis, Iris transillumination defect, Increased bone min... OMIM:617306
Pelvis-Shoulder Dysplasia
Spina bifida occulta, Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma OMIM:169550
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen... OMIM:600785
Acute Myelomonocytic Leukemia
Abnormality of the gingiva, Pallor ORPHA:517
Baraitser-Winter Cerebrofrontofacial Syndrome
Highly arched eyebrow, Microcornea, Optic disc coloboma, Long philtrum, Transient ischemic attack... ORPHA:2995
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
American Trypanosomiasis
Periorbital edema, Cardiomyopathy, Congestive heart failure, Pallor, Aganglionic megacolon, Arrhy... ORPHA:3386
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Coloboma, Low anterior hairline, Corneal opacity OMIM:613153
Curry-Jones Syndrome
Anal stenosis, High anterior hairline, Lip pit, Unicoronal synostosis, Intestinal pseudo-obstruct... OMIM:601707
1Q21.1 Microdeletion Syndrome
Cataract, Long philtrum, Ankyloglossia, Joint hypermobility, High palate, Iris coloboma, Patent d... ORPHA:250989
Duane Retraction Syndrome
Microcornea, Chorioretinal coloboma, Central heterochromia, Aniridia, Abnormal pupil morphology, ... ORPHA:233
Scalp-Ear-Nipple Syndrome
Sparse hair, Cataract, Bifid uvula, Sparse pubic hair, Fine hair, Congestive heart failure, Breas... OMIM:181270
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia ORPHA:276556
Microphthalmia, Syndromic 5
Cataract, Microcornea, Joint hypermobility, Coloboma, Cleft palate OMIM:610125
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Cardiac arrest, Pallor, Congestive heart failure ORPHA:49827
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Cataract, Tooth malposition, Failure of eruption of permanent teeth, Submucous cleft... ORPHA:2250
Incontinentia Pigmenti
Cataract, Conical tooth, Erythema, Keratitis, Delayed eruption of teeth, Alopecia, Supernumerary ... OMIM:308300
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia OMIM:179830
Microphthalmia, Syndromic 8
Microcornea, Cleft upper lip, Premature skin wrinkling, Orofacial cleft, Widely-spaced maxillary ... OMIM:601349
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Abnormality iris morphology, Occipital encephalocele, Cardiomyopathy, Megalocornea, Col... ORPHA:370959
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Cataract, Peters anomaly, Colonic atresia, Anteriorly placed anus... OMIM:309801
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Holoprosencephaly
Highly arched eyebrow, Spinal dysraphism, Chorioretinal coloboma, Tooth agenesis, Thick eyebrow, ... ORPHA:2162
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia ORPHA:276575
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Pallor OMIM:613561
Joubert Syndrome
Highly arched eyebrow, Encephalocele, Aganglionic megacolon, Orofacial cleft, Iris coloboma ORPHA:475
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia ORPHA:276580
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Low posterior hairline, Pulmonic stenosis, Coloboma, Anal atresia, Cleft p... OMIM:220210
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Narrow palate, Hydranencephaly, Highly arched eyebrow, Tracheomalacia, Tricuspid regurgitation, L... OMIM:620371
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Alopecia, Abnormal dental morphology, Hypophosphatemic rickets, Coloboma, Corneal opa... OMIM:163200
Joubert Syndrome 14
Highly arched eyebrow, Open mouth, Tented upper lip vermilion, Encephalocele, Short philtrum, Col... OMIM:614424
Donnai-Barrow Syndrome
Cataract, Umbilical hernia, Intestinal malrotation, Hypoplasia of the iris, Iris coloboma OMIM:222448
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Mycophenolate Mofetil Embryopathy
Tessier cleft, Tracheomalacia, Chorioretinal coloboma, Orofacial cleft, Tracheoesophageal fistula... ORPHA:268249
Joubert Syndrome With Oculorenal Defect
Highly arched eyebrow, Chorioretinal coloboma, Encephalocele, Aganglionic megacolon, Iris coloboma ORPHA:2318
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Fi... ORPHA:251028
White-Sutton Syndrome
Downturned corners of mouth, Open mouth, Astigmatism, Narrow mouth, Joint hypermobility, Thin upp... ORPHA:468678
Optic Atrophy 1
Pallor OMIM:165500
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Coach Syndrome 2
Coloboma, Hypertension, Chorioretinal coloboma OMIM:619111
Microphthalmia, Syndromic 2
Aortic valve stenosis, Laterally curved eyebrow, Contracture of the proximal interphalangeal join... OMIM:300166
Neuroocular Syndrome 1
Ankyloglossia, Torus palatinus, Brittle hair, Lens coloboma, Brushfield spots, Iris coloboma, Hyp... OMIM:619539
Basal Cell Nevus Syndrome 1
Cataract, Hamartomatous stomach polyps, Cleft upper lip, Spina bifida, Odontogenic keratocysts of... OMIM:109400
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft, Lip pit, Camptodactyly of finger, Supernumerary nipple, Abnormal palate morphology... ORPHA:1236
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Open mouth, Coloboma, Everted lower lip vermilion, Macroglossia, Wide mouth OMIM:616789
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Protein-losing enteropathy, Anasarca, Hypomagnesemia, Ascites, Pleural effusion, Hy... OMIM:618183
Biemond Syndrome Type 2
Coloboma ORPHA:141333
Oculogastrointestinal Neurodevelopmental Syndrome
Anal atresia, Coloboma, Hirsutism OMIM:619318
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Evans Syndrome
Epistaxis, Syncope, Pallor, Petechiae ORPHA:1959
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Irida Syndrome
Abnormal intestine morphology, Decreased circulating copper concentration, Pallor ORPHA:209981
Frontofacionasal Dysplasia
Bifid uvula, Cataract, Microcornea, Cranium bifidum occultum, Cleft upper lip, Absent inner eyela... OMIM:229400
Breath-Holding Spells
Pallor OMIM:607578
Hemoglobin D Disease
Pallor ORPHA:90039
Joubert Syndrome With Hepatic Defect
Highly arched eyebrow, Occipital encephalocele, Optic disc coloboma, Chorioretinal coloboma, Port... ORPHA:1454
Dubowitz Syndrome
Carious teeth, Velopharyngeal insufficiency, Delayed eruption of teeth, Hypoplasia of the iris, M... OMIM:223370
Beta-Thalassemia Intermedia
Osteopenia, Abnormality of iron homeostasis, Skin ulcer, Pallor, Increased susceptibility to frac... ORPHA:231222
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Pontocerebellar Hypoplasia, Type 11
Anal atresia, Coloboma OMIM:617695
Srd5A3-Cdg
Cataract, Coloboma, Hypertrichosis ORPHA:324737
8P11.2 Deletion Syndrome
Microcornea, Iris coloboma, Patent ductus arteriosus, High palate ORPHA:251066
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging of the costochondral junction, Sparse bone trab... OMIM:600081
Plummer-Vinson Syndrome
Narrow mouth, Pallor, Intra-oral hyperpigmentation, Esophageal web, Glossitis, Cheilitis, Tongue ... ORPHA:54028
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Proboscis Lateralis
Cataract, Microcornea, Chorioretinal coloboma, Optic disc coloboma, Long philtrum, Abnormal eyebr... ORPHA:141099
Stevenson-Carey Syndrome
Joint contracture of the hand, Downturned corners of mouth, Narrow mouth, Coloboma, Camptodactyly... OMIM:611961
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
High palate, Pallor, Distichiasis, Joint hypermobility OMIM:600462
Steinfeld Syndrome
Bifid uvula, Retinal coloboma, Median cleft palate, Median cleft upper lip, Iris coloboma OMIM:184705
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Rickets, Pallor OMIM:611590
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Joubert Syndrome 16
Coloboma, Encephalocele OMIM:614465
Acro-Renal-Ocular Syndrome
Cataract, Microcornea, Chorioretinal coloboma, Optic disc coloboma, Radial club hand, Aganglionic... ORPHA:959
Smith-Lemli-Opitz Syndrome
Iris coloboma, Patent ductus arteriosus, Cataract, Cleft palate, Pyloric stenosis, Microglossia, ... ORPHA:818
Acrocallosal Syndrome
Everted upper lip vermilion, Narrow mouth, Protruding tongue, Open mouth, Alveolar process hypopl... OMIM:200990
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Increased circulating iron concentration, Increased total iron binding capacit... ORPHA:98870
Adnp Syndrome
High anterior hairline, Thick lower lip vermilion, Umbilical hernia, Astigmatism, Juvenile catara... ORPHA:404448
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Thin vermilion border, Coloboma, Long philtrum, Gingival overgrowth ORPHA:464288
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Bifid uvula, Macroglossia, Downturned corners of mouth, Furrowed tongue, Increased nu... ORPHA:453499
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Rachitic rosary, Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Reduced bone minera... ORPHA:157215
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congest... ORPHA:33226
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Craniofacial hyperostosis, Iris coloboma, Alopecia, Pulmonary arterial hyp... ORPHA:2396
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Aniridia, Palpitati... ORPHA:29072
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, High anterior hairline, Downturned corners of mouth, Abnormal lip morpholo... ORPHA:280
Marcus-Gunn Syndrome
Cleft lip, Coloboma, Cleft palate ORPHA:91412
Holoprosencephaly 7
Unilateral cleft lip, Median cleft palate, Occipital meningocele, Bilateral cleft palate, Median ... OMIM:610828
Leishmaniasis
Abnormal oral mucosa morphology, Abnormal oral cavity morphology, Pallor, Skin ulcer ORPHA:507
Duane-Radial Ray Syndrome
Cataract, Anal stenosis, Retinal coloboma, Aganglionic megacolon, Spina bifida occulta, Anal atre... OMIM:607323
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Hypermobility of interphalangeal joints, Long philtrum, Retinal coloboma, H... ORPHA:508498
Joubert Syndrome 23
Coloboma OMIM:616490
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Bifid uvula, Sparse eyebrow, Carious teeth, Natal tooth, Branchial cyst, Optic disc coloboma, Dow... OMIM:620186
Solitary Median Maxillary Central Incisor
Cleft upper lip, Prominent median palatal raphe, Solitary median maxillary central incisor, Torus... OMIM:147250
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Bulging of the costochondral junction, Hypophosphatemic... OMIM:241530
Rheumatic Fever
Epistaxis, Erythema, Pallor, Arrhythmia, Arthritis, Myocarditis, Pericarditis ORPHA:3099
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Pallor, Lymphedema ORPHA:3226
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Hypercholanemia, Familial 1
Rickets OMIM:607748
Gorlin Syndrome
Cataract, Carious teeth, Orofacial cleft, Odontogenic keratocysts of the jaw, Vertebral fusion, I... ORPHA:377
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Sparse eyebrow, Coloboma, Widow's peak OMIM:167730
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Chorioretinal coloboma, Ankyloglossia, High palate, Iris coloboma, Aortic regurgitation, Cataract... OMIM:619475
Peters Plus Syndrome
Cataract, Microcornea, Peters anomaly, Intestinal fistula, Long philtrum, Cleft upper lip, Widely... ORPHA:709
Jacobsen Syndrome
Aortic valve stenosis, Cataract, Microcornea, Long philtrum, Intestinal malrotation, Abnormal pal... ORPHA:2308
Phakomatosis Pigmentokeratotica
Lymphedema, Hypophosphatemic rickets, Arrhythmia, Coloboma, Patchy alopecia, Raynaud phenomenon, ... ORPHA:2874
Meckel Syndrome, Type 1
Natal tooth, Occipital encephalocele, Cleft upper lip, Camptodactyly of finger, Intestinal malrot... OMIM:249000
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Sup... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Sup... ORPHA:352665
Chromosome 13Q14 Deletion Syndrome
Chorioretinal coloboma, Umbilical hernia, Supernumerary nipple, Thin upper lip vermilion, Deep ph... OMIM:613884
Dravet Syndrome
Limited knee extension, Pallor ORPHA:33069
Focal Dermal Hypoplasia
Chorioretinal coloboma, Supernumerary nipple, Telangiectasia, Brittle hair, Sparse hair, Iris col... OMIM:305600
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:276621
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Flexion contracture, Coloboma OMIM:615249
Jacobsen Syndrome
Microcornea, Chorioretinal coloboma, Abnormal eyelash morphology, Flexion contracture, Iris colob... OMIM:147791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Congenital contracture, Peters anomaly, Cleft upper lip, Megalocornea, Occipital enceph... OMIM:236670
Joubert Syndrome 22
Coloboma OMIM:615665
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Long philtrum, Ectopia pupillae, Long eyelashes, Coloboma, Sclerocornea OMIM:615877
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Pallor, Congestive heart failure ORPHA:90037
Peters-Plus Syndrome
Facial hypertrichosis, Short lingual frenulum, Limited elbow movement, Iris coloboma, Patent duct... OMIM:261540
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Sparse eyebrow, Conjunctival hyperemia, Coloboma, Corneal opacity, Abnormal eyelash mor... ORPHA:2399
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Edema, Duodenal polyposis, Multiple gastric polyps, Anemic pallor, Small intestinal... ORPHA:329971
Mowat-Wilson Syndrome
Cataract, Microcornea, Abnormal enteric ganglion morphology, Tooth malposition, Delayed eruption ... OMIM:235730
Coach Syndrome 1
Occipital encephalocele, Wide mouth, Portal hypertension, Encephalocele, Coloboma, Hypertension, ... OMIM:216360
Dominant Beta-Thalassemia
Abnormality of the dentition, Abnormality of iron homeostasis, Dilated cardiomyopathy, Skin ulcer... ORPHA:231226
Charge Syndrome
Highly arched eyebrow, Delayed eruption of teeth, Chorioretinal coloboma, Cleft upper lip, Umbili... ORPHA:138
Holoprosencephaly 2
Bifid uvula, Chorioretinal coloboma, Median cleft palate, Submucous cleft hard palate, Bilateral ... OMIM:157170
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Iris coloboma, Chorioretinal coloboma OMIM:615219
Retinitis Pigmentosa 51
Pallor OMIM:613464
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Facial erythema, Pallor ORPHA:439218
Esophageal Atresia
Barrett esophagus, Cleft lip, Intestinal malrotation, Esophagitis, Pallor, Coloboma, Tracheoesoph... ORPHA:1199
Retinitis Pigmentosa 75
Mixed astigmatism, Pallor OMIM:617023
Primary Myelofibrosis
Portal hypertension, Petechiae, Pallor, Ecchymosis, Purpura ORPHA:824
Wolf-Hirschhorn Syndrome
Craniofacial asymmetry, Malrotation of small bowel, Highly arched eyebrow, Downturned corners of ... OMIM:194190
Idiopathic Pulmonary Hemosiderosis
Heart murmur, Diffuse alveolar hemorrhage, Pallor ORPHA:99931
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Rachitic rosary OMIM:612089
Limb Body Wall Complex
Cleft lip, Myelomeningocele, Encephalocele, Short umbilical cord, Anencephaly, Abnormal intestine... ORPHA:2369
Anemia, Hypochromic Microcytic, With Iron Overload 2
Elevated transferrin saturation, Pallor, Elevated hepatic iron concentration OMIM:615234
Cree Impaired Intellectual Development Syndrome
Cleft soft palate, Coloboma OMIM:606851
Alternating Hemiplegia Of Childhood
Mydriasis, Downturned corners of mouth, Cardiomyopathy, Abnormal T-wave, Thin eyebrow, Pallor, Ca... ORPHA:2131
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Hypophosphatemic rickets, Pallor ORPHA:263455
Kabuki Syndrome
Abnormality of the dentition, Microcornea, Highly arched eyebrow, Lip pit, Sparse lateral eyebrow... ORPHA:2322
Fanconi Anemia, Complementation Group I
Pallor, Astigmatism, Fused cervical vertebrae OMIM:609053
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Premature loss of primary teeth, Pallor, Hypocalcemia, Pulmonary arter... ORPHA:667
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... OMIM:300554
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Cataract, Aortic regurgitation, Widely spaced teeth, Breast aplasia, Cleft... ORPHA:268261
Sepsis In Premature Infants
Hypotension, Pallor, Petechiae, Enterocolitis, Bradycardia, Tachycardia, Purpura, Edema ORPHA:90051
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Bulging of the costochondral junction, Sparse bone trab... OMIM:264700
Witteveen-Kolk Syndrome
High, narrow palate, Cataract, High anterior hairline, Medial flaring of the eyebrow, Branchial f... OMIM:613406
Beta-Thalassemia Major
Abnormality of the dentition, Abnormality of iron homeostasis, Dilated cardiomyopathy, Skin ulcer... ORPHA:231214
Acquired Idiopathic Sideroblastic Anemia
Pallor, Congestive heart failure ORPHA:75564
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Recurrent fractures, Osteomalacia OMIM:613388
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Optic disc coloboma, Intestinal malrotation, Cutis laxa, Polyhydramnios, Anal atresia, Rectovagin... OMIM:270420
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Generalized edema, Edema, Pallor, Hypocalcemia, Pleural empyema, Hyponatremi... ORPHA:544482
Bosma Arhinia Microphthalmia Syndrome
Cataract, Cleft lip, Dental malocclusion, Coloboma, High palate, Hypoplasia of teeth, Cleft palat... OMIM:603457
Familial Multiple Lipomatosis
Coloboma, Premature eruption of permanent teeth, Chorioretinitis, Odontogenic keratocysts of the jaw ORPHA:199276
Myopathy, Mitochondrial, And Ataxia
High palate, Pallor, Thick hair OMIM:617675
Fumarase Deficiency
Conjunctival icterus, Ascites, Pallor, Polyhydramnios, High palate, Necrotizing enterocolitis OMIM:606812
Beta-Ketothiolase Deficiency
Hypotension, Edema, Pallor, Hypertension, Dehydration ORPHA:134
Pituitary Apoplexy
Mydriasis, Hypotension, Pallor, Hyponatremia, Hypertension ORPHA:95613
Proximal Renal Tubular Acidosis
Cataract, Band keratopathy, Enamel hypomineralization, Hypokalemia, Coloboma, Reduced bone minera... ORPHA:47159
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Yellow nails, Chylothorax, Cleft upper lip, Lymphedema, Noni... OMIM:153400
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Myelofibrosis
Myelofibrosis, Pallor, Purpura OMIM:254450
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Abnormal tongue morphology, Ganglioneuromatosis, Palpitations, Pallor, Promi... ORPHA:653
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Peptic ulcer, Pallor, Increased susceptibility to fractures, Syncope, Osteoporosis, ... ORPHA:98849
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, A... ORPHA:93160
Hereditary Folate Malabsorption
Glossitis, Cheilitis, Pallor ORPHA:90045
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Pallor, Congestive heart failure ORPHA:90033
Bohring-Opitz Syndrome
Cleft lip, Congenital contracture, Limitation of joint mobility, Hypertrichosis, Prominent palati... ORPHA:97297
Renpenning Syndrome 1
Cataract, Joint contracture of the hand, Synostosis of the proximal phalanx of the thumb with the... OMIM:309500
Imerslund-Gräsbeck Syndrome
Tachycardia, Glossitis, Angular cheilitis, Pallor ORPHA:35858
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Median cleft upper lip, Cyclopia, Iris coloboma, Orofacial cleft ORPHA:3186
Hypophosphatemic Rickets, X-Linked Dominant
Rachitic rosary, Rickets, Osteomalacia, Hypophosphatemic rickets, Osteoarthritis OMIM:307800
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Bulging of the costochondral junction, Sparse bone trab... OMIM:277440
Charge Syndrome
Cataract, Anal stenosis, Cleft upper lip, Retinal coloboma, Umbilical hernia, Hypocalcemia, Paten... OMIM:214800
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Angioedema, Congestive heart failure, Transient ische... ORPHA:3260
Degcags Syndrome
Premature graying of hair, Protruding tongue, Low posterior hairline, Tachycardia, High palate, P... OMIM:619488
Sheehan Syndrome
Sparse pubic hair, Dry skin, Breast hypoplasia, Palpitations, Pallor, Hyponatremia, Sparse axilla... ORPHA:91355
Branchiooculofacial Syndrome
Cataract, Abnormality of the dentition, Cleft upper lip, Retinal coloboma, Elbow flexion contract... OMIM:113620
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia ORPHA:89937
Rubinstein-Taybi Syndrome 1
Facial hypertrichosis, Narrow mouth, Frontal upsweep of hair, Low posterior hairline, High palate... OMIM:180849
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Pallor, Elevated hepatic iron concentration, Decreased ... ORPHA:300298
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Tooth malposition, Hyphema, Ectopia pupillae, Open mouth, Axenfeld anomaly... ORPHA:261552
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad alveolar ridges, Cleft lip, Peters anomaly, Furrowed tongue, Widow's peak, Smooth philtrum,... OMIM:616975
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Rachitic rosary, Rickets, Osteomalacia, Increased susceptibility... ORPHA:289157
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Anemic pallor, Palpitations, Pedal edema ORPHA:86839
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Dehydration, Pallor, Cardiac arrest, Edema ORPHA:20
Linear Nevus Sebaceus Syndrome
Alopecia, Iris coloboma ORPHA:2612
X-Linked Hypophosphatemia
Rachitic rosary, Limitation of joint mobility, Rickets, Multiple rib fractures, Generalized osteo... ORPHA:89936
Phace Syndrome
Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris coloboma ORPHA:42775
Microphthalmia, Syndromic 3
Cataract, Coloboma, Esophageal atresia, Sclerocornea, Vertebral fusion, Patent ductus arteriosus OMIM:206900
Mowat-Wilson Syndrome
Aortic valve stenosis, Tooth malposition, Open mouth, Axenfeld anomaly, Everted lower lip vermili... ORPHA:2152
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Cardiac arrest, Pallor, Dehydration OMIM:246450
Prolactinoma
Osteopenia, Hypotension, Pallor, Abnormal hair quantity, Osteoporosis ORPHA:2965
Microphthalmia, Syndromic 1
High, narrow palate, Tooth malposition, Microcornea, Joint contracture of the hand, Dental crowdi... OMIM:309800
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Osteomalacia, Joint stiffness, Joint hypermobility, Osteoporosis ORPHA:1901
Cold Agglutinin Disease
Pallor ORPHA:56425
Diamond-Blackfan Anemia
Cleft lip, Cleft soft palate, Pallor, Low anterior hairline, Nonimmune hydrops fetalis, Developme... ORPHA:124
Tsh-Secreting Pituitary Adenoma
Osteopenia, Hypotension, Congestive heart failure, Pericardial effusion, Palpitations, Pallor, Hy... ORPHA:91347
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Diamond-Blackfan Anemia 1
Cleft upper lip, Congestive heart failure, Pallor, Primary congenital glaucoma, High palate, Spin... OMIM:105650
Pearson Marrow-Pancreas Syndrome
Erythema, Villous atrophy, Pallor, Punctate keratitis, Steatorrhea, Hydrops fetalis, Dehydration OMIM:557000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Coloboma, Corneal opacity, Ectopia pupillae ORPHA:85167
Pyruvate Kinase Deficiency Of Red Cells
Pallor, Nonimmune hydrops fetalis OMIM:266200
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets OMIM:211600
Hereditary Spherocytosis
Restrictive cardiomyopathy, Gout, Skin ulcer, Pallor ORPHA:822
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Tooth malposition, Open mouth, Axenfeld anomaly, Iris coloboma, Cataract, ... ORPHA:261537
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Cataract, Carious teeth, Natal tooth, Dental crowding, Dental malocclusion... ORPHA:353281
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,... OMIM:300009
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Pallor, Smooth philtrum, Pulmonary arterial hypertension, Bradycardia, Tachycardia, ... OMIM:277400
Adenohypophysitis
Hyponatremia, Pallor, Orthostatic hypotension ORPHA:95512
Fibrous Dysplasia Of Bone
Rickets, Abnormal rib morphology, Osteomalacia, Cortical irregularity, Pathologic fracture, Fibro... ORPHA:249
Infantile Systemic Hyalinosis
Osteopenia, Camptodactyly of finger, Osteomalacia, Joint stiffness, Increased susceptibility to f... ORPHA:2176
Oculopalatocerebral Syndrome
Leukocoria, Cleft palate, Remnants of the hyaloid vascular system OMIM:257910
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Panhypophysitis
Hyponatremia, Pallor, Orthostatic hypotension ORPHA:95513
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Letterer-Siwe Disease
Stomatitis, Pallor OMIM:246400
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Megalocornea, Pallor, Coloboma, Everted lower lip vermilion, Buphthalmos, Opacification... OMIM:253280
Non-Functioning Pituitary Adenoma
Hypotension, Pallor, Abnormal hair quantity ORPHA:91349
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Carious teeth, Natal tooth, High palate, Patent ductus arteriosus, Catarac... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Carious teeth, Natal tooth, High palate, Patent ductus arteriosus, Catarac... ORPHA:353277
Monosomy 13Q14
Cataract, Iris coloboma ORPHA:1587
Von Hippel-Lindau Disease
Macular edema, Cardiomyopathy, Palpitations, Pallor, Arrhythmia, Myocarditis, Abnormal left ventr... ORPHA:892
Tay-Sachs Disease
Pallor OMIM:272800
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Roberts-Sc Phocomelia Syndrome
Sparse hair, Ankle flexion contracture, Cataract, Stillbirth, Cleft upper lip, Elbow flexion cont... OMIM:268300
Thauvin-Robinet-Faivre Syndrome
Retinal coloboma, Coloboma, Thick vermilion border, Macroglossia, Pedal edema OMIM:617107
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Conjunctival icterus, Pallor OMIM:194380
Townes-Brocks Syndrome
Cataract, Iris coloboma, Chorioretinal coloboma, Anteriorly placed anus, Wide mouth, Rectoperinea... ORPHA:857
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... ORPHA:289176
Senior-Loken Syndrome 8
Pallor OMIM:616307
Childhood Absence Epilepsy
Pallor ORPHA:64280
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Pallor OMIM:301310
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Osteopenia, Bidirectional shunt, Generalized edema, Edema, Tricuspid regurg... OMIM:619534
Elliptocytosis 1
Pallor OMIM:611804
Neuroblastoma
Pathologic fracture, Anemic pallor, Hypertension ORPHA:635
Aregenerative Anemia
Pallor ORPHA:101096
Bile Acid Synthesis Defect, Congenital, 1
Rickets OMIM:607765
Microphthalmia, Syndromic 6
Lambdoidal craniosynostosis, Bifid uvula, Microcornea, Microglossia, Coloboma, Sclerocornea, High... OMIM:607932
Dent Disease
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,... ORPHA:1652
Cystinosis
Rickets ORPHA:213
Neu-Laxova Syndrome
Osteopenia, Rickets, Osteomalacia, Osteoporosis, Flexion contracture, Arthrogryposis multiplex co... ORPHA:2671
Mccune-Albright Syndrome
Aneurysmal bone cyst, Osteomalacia, Monostotic fibrous dysplasia, Fibrous dysplasia of the bones,... ORPHA:562
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Congenital Bile Acid Synthesis Defect Type 2
Rickets ORPHA:79303
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Rickets, Osteomalacia ORPHA:309031
Fanconi-Bickel Syndrome
Osteopenia, Rickets ORPHA:2088
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Fanconi Anemia, Complementation Group D2
Anemic pallor, Tracheoesophageal fistula, Esophageal atresia, Patent ductus arteriosus OMIM:227646
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets OMIM:212750
Fanconi-Bickel Syndrome
Rickets, Osteomalacia OMIM:227810
Fanconi Anemia, Complementation Group C
Flexion contracture, Anemic pallor OMIM:227645
Distal Renal Tubular Acidosis
Reduced bone mineral density, Rickets, Increased susceptibility to fractures, Osteomalacia ORPHA:18
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Fanconi Anemia, Complementation Group A
Anemic pallor OMIM:227650
Occipital Horn Syndrome
Synostosis of joints, Osteopenia, Rickets, Osteomalacia, Joint hypermobility, Osteoporosis, Osteo... ORPHA:198
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Rickets, Joint hypermobility, Thin bony cortex, Reduced bone mineral density OMIM:613658
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Joint stiffness, Joint hypermobility, Arthritis, Abnormal rib morphology, Recurrent... ORPHA:534
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Tricuspid regurgitation, Pallor, Mitral regurgitation, Pulmonary arter... ORPHA:99125
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Rickets, Osteomalacia, Osteoporosis, Abnormally ossified vertebrae ORPHA:2636
Cystinosis, Nephropathic
Hypophosphatemic rickets, Rickets, Rachitic rosary OMIM:219800
Wilson Disease
Joint hypermobility, Osteoporosis, Osteoarthritis, Osteomalacia OMIM:277900
Infantile Nephropathic Cystinosis
Rickets ORPHA:411629
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Rickets, Camptodactyly of finger, Pathologic fracture, Osteomalaci... OMIM:309000
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Increased susceptibility to fractures, Osteomalacia ORPHA:3337
Goodpasture Syndrome
Pulmonary hemorrhage, Pallor OMIM:233450
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Arthritis, Osteomalacia OMIM:619381
Hypomagnesemia 3, Renal
Rickets OMIM:248250
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Fused cervical vertebrae, O... ORPHA:51608

Histopathology

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

Phenotype Allele Zygosity Sex Life Stage
Heart - process of degenerative change Slc13a4em1(IMPC)Hmgu HET Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc13a4.

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

Title Journal IMPC Allele PubMed ID
Postnatal N-acetylcysteine administration rescues impaired social behaviors and neurogenesis in Slc13a4 haploinsufficient mice. EBioMedicine (April 2019) Slc13a4tm1c(EUCOMM)Wtsi Slc13a4tm1d(EUCOMM)Wtsi PMC6557756
Loss of the sulfate transporter Slc13a4 in placenta causes severe fetal abnormalities and death in mice. Cell research (August 2015) Slc13a4tm1a(EUCOMM)Wtsi PMC4650418

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
Slc13a4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Slc13a4em1(IMPC)Hmgu Exon Deletion Mice
Slc13a4tm43133(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc13a4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, 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