Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

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
Intellectual Disability-Cataracts-Kyphosis Syndrome
Iris coloboma, Thick vermilion border, Cataract, Knee flexion contracture, Elbow flexion contracture ORPHA:171860
Kahrizi Syndrome
Thick lower lip vermilion, Iris coloboma, Cataract, Knee flexion contracture, Elbow flexion contr... OMIM:612713
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Terminal Osseous Dysplasia
Camptodactyly of finger, Abnormal hand bone ossification, Camptodactyly of toe, Iris coloboma, Mu... OMIM:300244
Loose Anagen Syndrome
Iris coloboma, Abnormal hair morphology, Abnormal hair whorl ORPHA:168
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Bilateral cleft li... ORPHA:1473
Abruzzo-Erickson Syndrome
Chorioretinal coloboma, Coloboma, Radioulnar synostosis, Abnormal palate morphology, Iris colobom... ORPHA:921
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Microcornea, Iris coloboma, White forelock OMIM:601706
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Short philtrum, Abnormality iris morphology, Coloboma, Cataract, Cleft p... ORPHA:1617
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract, Coloboma, Cleft upper lip, Cleft palate OMIM:120433
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Oculofaciocardiodental Syndrome
Long philtrum, Oligodontia, Delayed eruption of teeth, Tooth malposition, Highly arched eyebrow, ... ORPHA:2712
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Microphthalmia, Isolated, With Coloboma 5
Oral cleft, Chorioretinal coloboma, Iris coloboma OMIM:611638
Mulibrey Nanism
Enamel hypoplasia, Hydrops fetalis, Dental crowding, Iris coloboma, Dental malocclusion, Hypodont... OMIM:253250
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Microcornea, Iris coloboma, Patent ductus arteriosus OMIM:615147
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Peters anomaly, Iris coloboma, Coloboma OMIM:610023
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Iris coloboma, Cerulean cataract OMIM:610202
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Renpenning Syndrome
Short philtrum, Narrow mouth, Iris coloboma, Cataract, Abnormal hair laboratory examination, Anal... ORPHA:3242
Congenital Disorder Of Glycosylation, Type Ii
Cataract, Coloboma OMIM:607906
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Coloboma OMIM:251505
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Cervical C3/C4 vertebral fusion, Iris coloboma, Cervical C5/C6 vertebrae ... OMIM:613702
Hypomelanosis Of Ito
Irregularly spaced teeth, Iris coloboma, Cataract, Alopecia, Thick lower lip vermilion OMIM:300337
Otodental Dysplasia
Long philtrum, Pulp calcification, Coloboma, Taurodontia, Ankylosis, Hypodontia OMIM:166750
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Temtamy Syndrome
Chorioretinal coloboma, Joint hyperflexibility, Abnormal palate morphology, Iris coloboma, Thick ... ORPHA:1777
Cat-Eye Syndrome (Type I)
Anal atresia, Iris coloboma DECIPHER:42
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Iris coloboma, Sparse scalp hair, Cataract, Reduced bone mineral density, Abnor... ORPHA:2611
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Iris coloboma OMIM:212550
Abruzzo-Erickson Syndrome
Radioulnar synostosis, Coloboma, Cleft palate OMIM:302905
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, High palate, Iris coloboma, Median cleft lip OMIM:155145
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Biemond Syndrome Ii
Iris coloboma OMIM:210350
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Iris coloboma, Tooth agenesis, Cleft upper lip, Cleft palate, Osteopenia OMIM:147950
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Oral cleft, Ocular anterior segment dysgenesis, Developmental cataract, Coloboma ORPHA:324416
Humero-Radial Synostosis
Chorioretinal coloboma, Tarsal synostosis, Elbow ankylosis, Iris coloboma, Meningocele, Limitatio... ORPHA:3265
Triploidy
Polyhydramnios, Macroglossia, Narrow mouth, Intestinal malrotation, Iris coloboma, Non-midline cl... ORPHA:3376
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia, Abnormality o... ORPHA:90064
Cat-Eye Syndrome
Chorioretinal coloboma, Anal atresia, Iris coloboma ORPHA:195
Trisomy 13
Long philtrum, Hydrops fetalis, Abnormal eyelash morphology, Iris coloboma, Aplasia/Hypoplasia of... ORPHA:3378
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Long philtrum, Highly arched eyebrow, Iris coloboma, Wide mouth, Patent d... OMIM:243310
Temtamy Syndrome
Chorioretinal coloboma, Long philtrum, Highly arched eyebrow, Hypoplasia of teeth, Aortic regurgi... OMIM:218340
Pai Syndrome
Iris coloboma, Cleft palate, Abnormal oral frenulum morphology, Bifid uvula, Median cleft lip ORPHA:1993
Hallermann-Streiff Syndrome
Joint hypermobility, Thin vermilion border, Narrow palate, Narrow mouth, Natal tooth, Iris colobo... OMIM:234100
3Q29 Microduplication Syndrome
Aniridia, Craniosynostosis, Camptodactyly of toe, Deep philtrum, Iris coloboma, Abnormality of th... ORPHA:251038
Frontofacionasal Dysplasia
Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Iris coloboma, Non-midline cleft lip, Catara... ORPHA:1791
Triopia
Polyhydramnios, Abnormal eyebrow morphology, Iris coloboma, Microcornea, Cleft palate, Abnormal p... ORPHA:3374
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Abnormal bone structure ORPHA:46532
Distal Trisomy 18Q
Camptodactyly of finger, Carious teeth, Abnormality of dental morphology, Iris coloboma, High pal... ORPHA:1716
Anophthalmia Plus Syndrome
Spina bifida, Iris coloboma, Bilateral cleft lip and palate, Non-midline cleft lip, Cleft palate ORPHA:1104
Dermatitis, Atopic
Keratoconus, Facial erythema, Cataract, Conjunctivitis, Pallor, Dry skin OMIM:603165
Branchio-Oculo-Facial Syndrome
Coloboma, Premature graying of hair, Everted lower lip vermilion, Deep philtrum, Iris coloboma, U... ORPHA:1297
Kapur-Toriello Syndrome
Camptodactyly of finger, Retinal coloboma, Iris coloboma, Intestinal malrotation, Patent ductus a... OMIM:244300
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Pallor, Macular edema OMIM:613750
Congenital Disorder Of Glycosylation, Type Id
Arthrogryposis multiplex congenita, Villous atrophy, Flexion contracture, Iris coloboma, Joint co... OMIM:601110
Facial Clefting, Oblique, 1
Coloboma, Cleft upper lip, Cleft palate OMIM:600251
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Delayed eruption of teeth, Short philtrum, Hypopigmentation of hair, Tauro... ORPHA:3214
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Bresek Syndrome
Aganglionic megacolon, Iris coloboma, Neonatal death, Alopecia, Cleft palate ORPHA:85284
Frontonasal Dysplasia 1
Coloboma, Widow's peak, Camptodactyly, Median cleft palate, Cataract, Joint contracture of the ha... OMIM:136760
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Richieri-Costa/Guion-Almeida Syndrome
Palmoplantar cutis laxa, Iris coloboma, Cleft palate, Spina bifida occulta, Cleft upper lip OMIM:268850
Microphthalmia, Isolated, With Coloboma 6
Coloboma OMIM:613703
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Ocular anterior segment dysgenesis, Iris coloboma, Abnormality of the dentition, Abnormal hair mo... OMIM:601427
Microphthalmia, Syndromic 13
Diastema, Microcornea, Coloboma OMIM:300915
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Hypopigmentation of hair, Albinism, Pallor ORPHA:2786
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Iris coloboma, Sparse scalp hair, Sparse and thin eyebrow, Cleft palate ORPHA:66629
Treacher Collins Syndrome 3
Coloboma, Cleft palate OMIM:248390
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Iris coloboma, Cataract, Microcornea, Sclerocornea, High palate ORPHA:139471
Retinitis Pigmentosa 42
Pallor OMIM:612943
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Ectopia lentis, Iris coloboma, Palpebral edema ORPHA:1259
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Iris coloboma, Lens subluxation OMIM:216820
Laurence-Moon Syndrome
Cataract, Iris coloboma ORPHA:2377
Neurooculocardiogenitourinary Syndrome
Coloboma, Downturned corners of mouth, Patent ductus arteriosus, Smooth philtrum, Tricuspid regur... OMIM:618652
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Crouzon Disease
Conjunctivitis, Iris coloboma, Narrow palate, Multiple suture craniosynostosis ORPHA:207
Autosomal Dominant Keratitis
Aniridia, Coloboma, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypopl... ORPHA:2334
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
High palate, Iris coloboma OMIM:300472
Hajdu-Cheney Syndrome
Open bite, Thin vermilion border, Narrow mouth, Downturned corners of mouth, Intestinal malrotati... ORPHA:955
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Osteolysis, Osteolysis involving bones of the upper limbs, Hirsutism, Iris coloboma... ORPHA:371428
Nizon-Isidor Syndrome
Short philtrum, Sparse eyebrow, Narrow mouth, Downturned corners of mouth, Open mouth, Everted lo... OMIM:618872
Treacher Collins Syndrome 2
Coloboma, Cleft palate OMIM:613717
Tetraamelia-Multiple Malformations Syndrome
Polyhydramnios, Narrow mouth, Iris coloboma, Oral cleft, Cataract, Abnormally ossified vertebrae,... ORPHA:3301
Retinitis Pigmentosa 60
Pallor OMIM:613983
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Thick upper lip vermilion, Abnormality of the dentition, Thin upper lip vermilion... OMIM:226440
Joint Laxity, Short Stature, And Myopia
Chorioretinal coloboma, Osteopenia, Iris coloboma OMIM:617662
Gorlin Syndrome
Vertebral fusion, Cataract, Carious teeth, Iris coloboma ORPHA:377
Retinitis Pigmentosa 81
Pallor OMIM:617871
Congenital Hydrocephalus
Iris coloboma ORPHA:2185
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Chorioretinal coloboma, Iris coloboma ORPHA:2921
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Coloboma OMIM:602499
Kapur-Toriello Syndrome
Retinal coloboma, Patent ductus arteriosus, Iris coloboma, Intestinal malrotation, Oral cleft ORPHA:2328
Microphthalmia, Isolated, With Coloboma 9
Long philtrum, Iris coloboma, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:615145
White-Sutton Syndrome
Short philtrum, Joint laxity, Downturned corners of mouth, Open mouth, Iris coloboma, High palate... OMIM:616364
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Remnants of the hyaloid vascular system, Persistent pupill... OMIM:221900
Mental Retardation Syndrome, Belgian Type
Coloboma OMIM:249599
Optic Atrophy 9
Pallor OMIM:616289
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Iris coloboma, Patent ductus arterios... ORPHA:861
Donnai-Barrow Syndrome
Widow's peak, Iris coloboma, Intestinal malrotation, Umbilical hernia ORPHA:2143
Myopathic Ehlers-Danlos Syndrome
Joint hypermobility, Congenital finger flexion contractures, Flexion contracture, Congenital cont... ORPHA:536516
Baraitser-Winter Syndrome 2
Long philtrum, Highly arched eyebrow, Coloboma, Wide mouth, Oral cleft, Thin upper lip vermilion OMIM:614583
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Spina bifida, Retinal coloboma, Iris coloboma, Facial hirsutism, Microgl... ORPHA:2839
3C Syndrome
Chorioretinal coloboma, Iris coloboma, Intestinal malrotation, Oral cleft, Ectopic anus, Aortic v... ORPHA:7
Focal Dermal Hypoplasia
Open bite, Chorioretinal coloboma, Abnormal dental enamel morphology, Spina bifida, Camptodactyly... ORPHA:2092
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Microphthalmia, Isolated 4
Coloboma OMIM:613094
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Stromme Syndrome
Stillbirth, Iris coloboma, Intestinal malrotation, Wide mouth, Jejunal atresia, Cataract, Peters ... OMIM:243605
Walker-Warburg Syndrome
Chorioretinal dysplasia, Iris coloboma, Corneal opacity, Cataract, Microcornea, Cleft palate, Bif... ORPHA:899
Lateral Meningocele Syndrome
Dental crowding, Craniofacial hyperostosis, Joint hyperflexibility, Iris coloboma, Smooth philtru... ORPHA:2789
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Hypophosphatasia, Adult
Rickets, Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to frac... OMIM:146300
Oculoauricular Syndrome
Coloboma, Microphakia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:612109
Primary Lateral Sclerosis, Juvenile
Pallor, Difficulty in tongue movements OMIM:606353
Cohen Syndrome
Low anterior hairline, Short philtrum, Open mouth, Thick hair, Joint hyperflexibility, Abnormal e... ORPHA:193
Frontorhiny
Camptodactyly of finger, Widow's peak, Iris coloboma, Cataract, Bifid tongue, Cleft palate ORPHA:391474
Oculocerebrocutaneous Syndrome
Iris coloboma, Wide mouth, Corneal opacity, Oral cleft, Alopecia ORPHA:1647
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma OMIM:274270
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Optic disc coloboma, Iris coloboma, Patent ductus arteriosus, Cleft palate, High palate ORPHA:52055
Microform Holoprosencephaly
Short philtrum, Cyclopia, Iris coloboma, Tented upper lip vermilion, Oral cleft, Solitary median ... ORPHA:280200
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Long philtrum, Joint hypermobility, Coloboma, Narrow mouth, Patent ductus arteriosus, Wide mouth,... OMIM:618659
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Developmental And Epileptic Encephalopathy 93
Iris coloboma OMIM:618012
Cat Eye Syndrome
Chorioretinal coloboma, Iris coloboma, Intestinal malrotation, Anal atresia, Cleft palate OMIM:115470
Duane Retraction Syndrome
Chorioretinal coloboma, Aniridia, Central heterochromia, Everted lower lip vermilion, Camptodacty... ORPHA:233
Acute Myelomonocytic Leukemia
Abnormality of the gingiva, Pallor ORPHA:517
Sturge-Weber Syndrome
Conjunctival telangiectasia, Heterochromia iridis, Iris coloboma, Hyperostosis, Abnormal choroid ... ORPHA:3205
Distal Monosomy 13Q
Anal atresia, Iris coloboma ORPHA:1590
Contractures-Developmental Delay-Pierre Robin Syndrome
Radioulnar synostosis, Iris coloboma, Wrist flexion contracture, Glossoptosis, Cleft palate, High... ORPHA:436003
Joubert Syndrome With Renal Defect
Highly arched eyebrow, Aganglionic megacolon, Iris coloboma, Oral cleft, Cleft palate ORPHA:220497
Joubert Syndrome With Ocular Defect
Highly arched eyebrow, Retinal coloboma, Aganglionic megacolon, Iris coloboma, Oral cleft, Cleft ... ORPHA:220493
Zika Virus Disease
Chorioretinal atrophy, Iris coloboma, Conjunctivitis, Edema, Lens subluxation, Arthritis ORPHA:448237
Optic Atrophy 1
Pallor OMIM:165500
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Iris coloboma, Esophageal atresia, Sclerocornea, Tracheoesophageal fistula ORPHA:77298
Trisomy 18
Camptodactyly of finger, Spina bifida, Narrow palate, Narrow mouth, Cyclopia, Oligohydramnios, Ir... ORPHA:3380
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Spina bifida occulta OMIM:169550
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios, Congestive heart failure, Pallor ORPHA:163596
Rere-Related Neurodevelopmental Syndrome
Chorioretinal coloboma, Iris coloboma, Broad eyebrow, Peters anomaly, Astigmatism ORPHA:494344
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Coloboma, Cataract, Peters anomaly... OMIM:610256
Microphthalmia, Lenz Type
Chorioretinal coloboma, Delayed eruption of teeth, Camptodactyly of finger, Abnormality of dental... ORPHA:568
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Osteomalacia OMIM:193100
Donnai-Barrow Syndrome
Iris coloboma, Intestinal malrotation, Umbilical hernia, Hypoplasia of the iris, Cataract OMIM:222448
X-Linked Sideroblastic Anemia
Pallor, Abnormality of iron homeostasis ORPHA:75563
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Low anterior hairline, Highly arched eyebrow, Coloboma, Downturned corners of mouth, Diastema, Pa... ORPHA:329224
Beta-Thalassemia
Abnormality of iron homeostasis, Reduced bone mineral density, Pallor, Skin ulcer, Hypertrophic c... ORPHA:848
Curry-Jones Syndrome
Craniosynostosis, Optic disc coloboma, Iris coloboma, Intestinal malrotation, Generalized hirsutism ORPHA:1553
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental color, Coloboma, Abnormality of dental morphology, Hypophosphatemic rickets... OMIM:163200
15Q24 Microdeletion Syndrome
Long philtrum, Narrow mouth, Coloboma, Myelomeningocele, Joint laxity, Abnormal palate morphology... ORPHA:94065
Verheij Syndrome
Thin upper lip vermilion, Long philtrum, Vertebral fusion, Coloboma OMIM:615583
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Failure of eruption of permanent teeth, Tooth malposition, Iris coloboma, Cataract, Cleft palate,... ORPHA:2250
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Coloboma OMIM:613153
Ritscher-Schinzel Syndrome 1
Coloboma, Pulmonic stenosis, Aortic valve stenosis, Anal atresia, Cleft palate, Low posterior hai... OMIM:220210
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Generalized bone demineralization, Rickets, Rickets of the lower limbs, Thin bony cortex, Delayed... OMIM:600785
American Trypanosomiasis
Arrhythmia, Aganglionic megacolon, Congestive heart failure, Edema, Myocarditis, Periorbital edem... ORPHA:3386
Joubert Syndrome 14
Highly arched eyebrow, Short philtrum, Coloboma, Open mouth, Tented upper lip vermilion, Hyperten... OMIM:614424
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Long philtrum, Short philtrum, Narrow mouth, Coloboma, Dental crowding, Agenesis of permanent tee... ORPHA:251028
Microphthalmia, Syndromic 5
Joint laxity, Coloboma, Cataract, Microcornea, Cleft palate OMIM:610125
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Syncope, Tachycardia, Pallor, Hypertrophic cardiomyopathy ORPHA:276556
Retinitis Pigmentosa 70
Pallor OMIM:615922
Joubert Syndrome
Oral cleft, Highly arched eyebrow, Iris coloboma, Aganglionic megacolon ORPHA:475
Holoprosencephaly
Chorioretinal coloboma, Median cleft lip and palate, Highly arched eyebrow, Arrhythmia, Cyclopia,... ORPHA:2162
Triple A Syndrome
Iris coloboma ORPHA:869
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft lip and palate, Coloboma, Cleft upper lip OMIM:601357
Dubowitz Syndrome
Delayed eruption of teeth, Carious teeth, Agenesis of permanent teeth, Iris coloboma, Hypoplasia ... OMIM:223370
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Syncope, Tachycardia, Pallor, Hypertrophic cardiomyopathy ORPHA:276575
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Congestive heart failure, Pallor, Cardiac arrest ORPHA:49827
White-Sutton Syndrome
Short philtrum, Narrow mouth, Downturned corners of mouth, Open mouth, Joint laxity, Iris colobom... ORPHA:468678
Oculogastrointestinal Neurodevelopmental Syndrome
Anal atresia, Hirsutism, Coloboma OMIM:619318
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Syncope, Tachycardia, Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Spina bifida, Odontogenic keratocysts of the jaw, Iris colo... OMIM:109400
Biemond Syndrome Type 2
Coloboma ORPHA:141333
Stevenson-Carey Syndrome
Narrow mouth, Coloboma, Downturned corners of mouth, Pierre-Robin sequence, Camptodactyly, Joint ... OMIM:611961
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Chorioretinal coloboma, Highly arched eyebrow, Iris coloboma ORPHA:2318
Coach Syndrome 2
Chorioretinal coloboma, Coloboma, Hypertension OMIM:619111
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
High palate, Pallor, Distichiasis OMIM:600462
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Coloboma, Open mouth, Everted lower lip vermilion, Wide mouth OMIM:616789
8P11.2 Deletion Syndrome
High palate, Microcornea, Iris coloboma, Patent ductus arteriosus ORPHA:251066
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Abnormal palate morphology, Iris coloboma, Lip pit, Hypodontia, Supernum... ORPHA:1236
Incontinentia Pigmenti
Delayed eruption of teeth, Sparse hair, Breast hypoplasia, Uveitis, Coarse hair, Breast aplasia, ... OMIM:308300
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Bulging of the costochondral junction, Recurrent fractures, Enlargement of the costochon... OMIM:600081
Solitary Median Maxillary Central Incisor
Coloboma, Cyclopia, Torus palatinus, Solitary median maxillary central incisor, Cleft upper lip, ... OMIM:147250
Histiocytoid Cardiomyopathy
Congenital aphakia, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Corneal ... ORPHA:137675
Congenital Disorder Of Glycosylation, Type Iq
Cutis laxa, Hypertrichosis, Coloboma OMIM:612379
1Q21.1 Microdeletion Syndrome
Ankyloglossia, Long philtrum, Joint hyperflexibility, Iris coloboma, Patent ductus arteriosus, Ca... ORPHA:250989
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Spondylodysplastic Ehlers-Danlos Syndrome
Joint hypermobility, Narrow mouth, Optic disc coloboma, Cutis laxa, Iris coloboma, Corneal opacit... ORPHA:536471
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Coloboma, Long eyelashes, Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Abnormality iris morphology, Coloboma, Cataract, Megalocornea, Cardiomyopathy ORPHA:370959
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Oral cavity bleeding, Melena, Increased serum iron, Pallor... ORPHA:98870
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Tachycardia, Pallor, Syncope ORPHA:324575
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Coloboma, Widow's peak, Abnormal eyelash morphology, Corneal opacity, Cataract, C... ORPHA:2399
Microphthalmia, Syndromic 2
Oligodontia, Iris coloboma, Patent ductus arteriosus, Contracture of the proximal interphalangeal... OMIM:300166
Scalp-Ear-Nipple Syndrome
Developmental cataract, Sparse hair, Agenesis of permanent teeth, Abnormal hair morphology, Palpe... OMIM:181270
2Q31.1 Microdeletion Syndrome
Long philtrum, Thin vermilion border, Low anterior hairline, Camptodactyly of finger, Coloboma, D... ORPHA:251014
Baraitser-Winter Cerebrofrontofacial Syndrome
Long philtrum, Thin vermilion border, Highly arched eyebrow, Heterochromia iridis, Palpebral edem... ORPHA:2995
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Frontofacionasal Dysplasia
Iris coloboma, Oral cleft, Cataract, Microcornea, Cleft upper lip, Bifid uvula, Absent inner eyel... OMIM:229400
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Long philtrum, Thin vermilion border, Coloboma, Gingival overgrowth ORPHA:464288
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Pallor OMIM:608423
Breath-Holding Spells
Pallor OMIM:607578
Srd5A3-Cdg
Cataract, Hypertrichosis, Coloboma ORPHA:324737
Mycophenolate Mofetil Embryopathy
Chorioretinal coloboma, Hydrops fetalis, Iris coloboma, Oral cleft, Tracheoesophageal fistula ORPHA:268249
Beta-Thalassemia Intermedia
Osteoporosis, Abnormality of iron homeostasis, Reduced bone mineral density, Increased susceptibi... ORPHA:231222
Adnp Syndrome
Advanced eruption of teeth, Joint laxity, High anterior hairline, Hirsutism, Iris coloboma, Smoot... ORPHA:404448
Retinitis Pigmentosa 73
Pallor OMIM:616544
Steinfeld Syndrome
Retinal coloboma, Median cleft lip and palate, Bifid uvula, Iris coloboma OMIM:184705
Acro-Renal-Ocular Syndrome
Chorioretinal coloboma, Radial club hand, Coloboma, Optic disc coloboma, Iris coloboma, Aganglion... ORPHA:959
Irida Syndrome
Abnormal intestine morphology, Pallor, Decreased circulating copper concentration ORPHA:209981
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hypokalemia, Pallor OMIM:611590
Wolf-Hirschhorn Syndrome
Osteoporosis, Highly arched eyebrow, Short philtrum, Abnormality of the mouth, Abnormality of the... ORPHA:280
Smith-Lemli-Opitz Syndrome
Polyhydramnios, Abnormal dental enamel morphology, Iris coloboma, Patent ductus arteriosus, Incre... ORPHA:818
Evans Syndrome
Petechiae, Pallor, Epistaxis, Syncope ORPHA:1959
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Long philtrum, Spina bifida, Truncus arteriosus, Coloboma, Aortic regurgitation, Generalized join... ORPHA:508498
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Oligodontia, Macroglossia, Craniosynostosis, Coloboma, Downturned corners of mouth, Open mouth, B... ORPHA:453499
Lymphedema-Distichiasis Syndrome
Yellow nails, Arrhythmia, Lymphedema, Patent ductus arteriosus, Predominantly lower limb lymphede... OMIM:153400
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Rachitic rosary, Reduced bone mineral density, Osteomalacia, Pathologic... ORPHA:157215
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Pleural effusion, Pedal edema, Epistaxis, Congestive heart ... ORPHA:33226
Plummer-Vinson Syndrome
Glossitis, Narrow mouth, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Pallor, Tongue ... ORPHA:54028
Joubert Syndrome 23
Coloboma OMIM:616490
Leishmaniasis
Abnormal oral cavity morphology, Abnormal oral mucosa morphology, Skin ulcer, Pallor ORPHA:507
Duane-Radial Ray Syndrome
Anal stenosis, Retinal coloboma, Iris coloboma, Aganglionic megacolon, Cataract, Anal atresia, Sp... OMIM:607323
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Encephalocraniocutaneous Lipomatosis
Osteolysis, Craniofacial hyperostosis, Abnormal eyelash morphology, Bone cyst, Iris coloboma, Cor... ORPHA:2396
Focal Dermal Hypoplasia
Enamel hypoplasia, Aniridia, Oligodontia, Joint laxity, Iris coloboma, Intestinal malrotation, Sp... OMIM:305600
Cree Mental Retardation Syndrome
Cleft soft palate, Coloboma OMIM:606851
Jacobsen Syndrome
Long philtrum, Spina bifida, Abnormal palate morphology, Iris coloboma, Intestinal malrotation, S... ORPHA:2308
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Bulging of the costochondral junction, Recurrent fractures, En... OMIM:241530
Linear Skin Defects With Multiple Congenital Anomalies 1
Arrhythmia, Iris coloboma, Cataract, Anal atresia, Sclerocornea, Anteriorly placed anus, Histiocy... OMIM:309801
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Jacobsen Syndrome
Chorioretinal coloboma, Abnormal eyelash morphology, Flexion contracture, Iris coloboma, Microcor... OMIM:147791
Curry-Jones Syndrome
Craniosynostosis, Coloboma, Anal stenosis, Hirsutism, Intestinal malrotation OMIM:601707
Rheumatic Fever
Arrhythmia, Pericarditis, Epistaxis, Erythema, Myocarditis, Pallor, Arthritis ORPHA:3099
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Joubert Syndrome 16
Coloboma OMIM:614465
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Meckel Syndrome, Type 1
Oligohydramnios, Natal tooth, Iris coloboma, Intestinal malrotation, Wide mouth, Patent ductus ar... OMIM:249000
Mowat-Wilson Syndrome
Chorioretinal coloboma, Delayed eruption of teeth, Tooth malposition, Drooling, Supernumerary nip... OMIM:235730
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Open bite, Craniosynostosis, Coloboma, Open mouth, Downturned corners of mouth, Branchial anomaly... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Open bite, Craniosynostosis, Coloboma, Open mouth, Downturned corners of mouth, Branchial anomaly... ORPHA:352665
Pontocerebellar Hypoplasia, Type 11
Coloboma OMIM:617695
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking... ORPHA:29072
Witteveen-Kolk Syndrome
Polyhydramnios, Long philtrum, Thin vermilion border, Anisocoria, Open mouth, Narrow mouth, Media... OMIM:613406
Deafness-Lymphedema-Leukemia Syndrome
Lymphedema, Pallor, Intracranial hemorrhage ORPHA:3226
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis, Coloboma OMIM:617306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Flexion contracture, Coloboma OMIM:615249
Hypercholanemia, Familial 1
Rickets OMIM:607748
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Peters-Plus Syndrome
Polyhydramnios, Thin vermilion border, Craniosynostosis, Agenesis of maxillary lateral incisor, J... OMIM:261540
Peters Plus Syndrome
Polyhydramnios, Long philtrum, Umbilical hernia, Anterior chamber synechiae, Iris coloboma, Corne... ORPHA:709
Hypophosphatemic Rickets And Hyperparathyroidism
Rachitic rosary, Rickets, Hypophosphatemic rickets OMIM:612089
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Iris coloboma OMIM:615219
Joubert Syndrome With Hepatic Defect
Chorioretinal coloboma, Highly arched eyebrow, Optic disc coloboma, Iris coloboma, Oral cleft, Po... ORPHA:1454
Joubert Syndrome 22
Coloboma OMIM:615665
Fanconi Renotubular Syndrome 2
Rickets, Osteopenia OMIM:613388
Dravet Syndrome
Limited knee extension, Pallor, Drooling ORPHA:33069
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:276621
Dominant Beta-Thalassemia
Osteoporosis, Arrhythmia, Abnormality of iron homeostasis, Abnormality of the dentition, High-out... ORPHA:231226
Rare Circulatory System Disease
Limited wrist movement, Intermittent claudication, Limited hip movement, Elbow flexion contractur... ORPHA:98028
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Multiple gastric polyps, Anemic pallor, Rectal polyposis, Hematochezia, Small intestinal polyposi... ORPHA:329971
Holoprosencephaly 7
Solitary median maxillary central incisor, Median cleft lip and palate, Iris coloboma, Bilateral ... OMIM:610828
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Charge Syndrome
Polyhydramnios, Chorioretinal coloboma, Delayed eruption of teeth, Highly arched eyebrow, Narrow ... ORPHA:138
Proximal Renal Tubular Acidosis
Coloboma, Hypovolemia, Cataract, Dehydration, Hypokalemia, Reduced bone mineral density, Band ker... ORPHA:47159
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Pallor, Tachycardia ORPHA:90037
Kabuki Syndrome
Highly arched eyebrow, Coloboma, Abnormality of dental morphology, Joint hyperflexibility, Abnorm... ORPHA:2322
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, Short philtrum, Malrotation of small bowel, Radioulnar synostosis, Downtur... OMIM:194190
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Coloboma, Corneal opacity, Congenital contracture, Cataract, Peters anomaly, Megaloc... OMIM:236670
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Bulging of the costochondral junction, Recurrent fractures, Enlargement of the costochon... OMIM:264700
Retinitis Pigmentosa 75
Mixed astigmatism, Pallor OMIM:617023
Bosma Arhinia Microphthalmia Syndrome
Hypoplasia of teeth, Coloboma, Synophrys, Cataract, Cleft lip, Cleft palate, High palate, Dental ... OMIM:603457
Autoimmune Hemolytic Anemia
Arrhythmia, Pallor, Congestive heart failure ORPHA:98375
Acrocallosal Syndrome
Long philtrum, Thin vermilion border, Short philtrum, Hypoplasia of teeth, Coloboma, Open mouth, ... OMIM:200990
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed e... OMIM:300554
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Oral cleft, Median cleft lip, Iris coloboma, Cyclopia ORPHA:3186
Alternating Hemiplegia Of Childhood
Arrhythmia, Cardiac conduction abnormality, Downturned corners of mouth, Thin eyebrow, Dehydratio... ORPHA:2131
Beta-Thalassemia Major
Osteoporosis, Arrhythmia, Abnormality of iron homeostasis, Abnormality of the dentition, High-out... ORPHA:231214
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Tachycardia, Pallor ORPHA:263455
Fanconi Anemia, Complementation Group I
Astigmatism, Pallor, Fused cervical vertebrae OMIM:609053
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Oligohydramnios, Aortic regurgitation, Iris coloboma, Breast aplasia, Cataract, Aortic valve sten... ORPHA:268261
Limb Body Wall Complex
Spina bifida, Short umbilical cord, Iris coloboma, Corneal opacity, Cleft lip, Lens subluxation, ... ORPHA:2369
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Pallor, Facial erythema ORPHA:439218
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Rachitic rosary, Osteomalacia, Increased susceptibility to fractures, Enlargement of the... ORPHA:289157
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Coloboma, Odontogenic keratocysts of the jaw, Chorioretinitis ORPHA:199276
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture OMIM:179800
Coach Syndrome 1
Coloboma, Wide mouth, Hypertension, Esophageal varix, Portal hypertension OMIM:216360
Myelofibrosis
Pallor, Myelofibrosis, Purpura OMIM:254450
Multiple Endocrine Neoplasia Type 2
Palpitations, Abnormal tongue morphology, Prominent corneal nerve fibers, Joint laxity, Hypertens... ORPHA:653
Esophageal Atresia
Polyhydramnios, Esophagitis, Coloboma, Excessive salivation, Intestinal malrotation, Duodenal atr... ORPHA:1199
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Primary Myelofibrosis
Purpura, Petechiae, Portal hypertension, Pallor, Ecchymosis ORPHA:824
Sepsis In Premature Infants
Purpura, Hypotension, Bradycardia, Petechiae, Edema, Tachycardia, Enterocolitis, Pallor ORPHA:90051
Charge Syndrome
Hypocalcemia, Coloboma, Anal stenosis, Retinal coloboma, Iris coloboma, Esophageal atresia, Paten... OMIM:214800
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Delayed eruption of teeth, Hypocalcemia, Craniosynostosis, Recurrent fractures,... ORPHA:667
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Pallor ORPHA:75564
Bohring-Opitz Syndrome
Bilateral wrist flexion contracture, Coloboma, Congenital contracture, Synophrys, Hypertrichosis,... ORPHA:97297
Pituitary Apoplexy
Hypotension, Hyponatremia, Hypertension, Mydriasis, Pallor ORPHA:95613
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Excessive salivation, Pallor ORPHA:13
Branchiooculofacial Syndrome
Low posterior hairline, Sparse hair, Branchial anomaly, Premature graying of hair, Retinal colobo... OMIM:113620
Myopathy, Mitochondrial, And Ataxia
High palate, Pallor, Thick hair OMIM:617675
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Hypocalcemia, Intestinal perforation, Intussusception, Hyponatremia, Hypertensive ... ORPHA:544482
Hypocalcemic Vitamin D-Resistant Rickets
Osteolysis, Bone cyst, Recurrent fractures, Coarse metaphyseal trabecularization, Osteomalacia, A... ORPHA:93160
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Coloboma, Widow's peak, Patent ductus arteriosus, Smooth philtrum, Broad eyebrow, Furrowed tongue... OMIM:616975
Renpenning Syndrome 1
Short philtrum, Narrow mouth, Coloboma, Sparse hair, Camptodactyly, Thin upper lip vermilion, Cat... OMIM:309500
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Open mouth, Dental crowding, Camptodactyly, Iris coloboma, Patent ductus arteriosus, Broad eyebro... ORPHA:261552
Microphthalmia, Syndromic 3
Vertebral fusion, Esophageal atresia, Patent ductus arteriosus, Coloboma OMIM:206900
Vitamin D-Dependent Rickets, Type 2A
Rickets, Bulging of the costochondral junction, Recurrent fractures, Thin bony cortex, Delayed ep... OMIM:277440
Systemic Mastocytosis With Associated Hematologic Neoplasm
Osteoporosis, Hypotension, Peptic ulcer, Tachycardia, Increased susceptibility to fractures, Pall... ORPHA:98849
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Beta-Ketothiolase Deficiency
Hypotension, Hypertension, Dehydration, Edema, Pallor ORPHA:134
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Pallor, Tachycardia ORPHA:90033
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia ORPHA:89937
Retinitis Pigmentosa 51
Pallor OMIM:613464
Idiopathic Hypereosinophilic Syndrome
Joint swelling, Supraventricular arrhythmia, Myelofibrosis, Intracranial hemorrhage, Pleural effu... ORPHA:3260
X-Linked Hypophosphatemia
Craniosynostosis, Rickets, Beaded ribs, Generalized osteosclerosis, Enthesitis, Rachitic rosary, ... ORPHA:89936
Linear Nevus Sebaceus Syndrome
Iris coloboma, Alopecia ORPHA:2612
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Breast hypoplasia, Hyponatremia, Sparse axillary hair, Bra... ORPHA:91355
Fumarase Deficiency
High palate, Pallor OMIM:606812
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic iron concentration, Increased serum iron, Pallor, Decreased transferrin saturation ORPHA:300298
Phace Syndrome
Heterochromia iridis, Iris coloboma, Lens coloboma, Cataract, Sclerocornea ORPHA:42775
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Mowat-Wilson Syndrome
Open mouth, Dental crowding, Camptodactyly, Iris coloboma, Patent ductus arteriosus, Broad eyebro... ORPHA:2152
Paroxysmal Nocturnal Hemoglobinuria
Angina pectoris, Pulmonary embolism, Myocardial infarction, Pulmonary arterial hypertension, Tran... ORPHA:447
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Hereditary Folate Malabsorption
Glossitis, Cheilitis, Pallor ORPHA:90045
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Open mouth, Dental crowding, Camptodactyly, Iris coloboma, Broad eyebrow, Abnormality of dental m... ORPHA:261537
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Prolactinoma
Osteoporosis, Abnormal hair quantity, Hypotension, Osteopenia, Pallor ORPHA:2965
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Palpitations, Osteoporosis, Abnormal hair quantity, Supraventricular arrh... ORPHA:91347
Diamond-Blackfan Anemia 1
Primary congenital glaucoma, Tricuspid stenosis, Congestive heart failure, Cleft upper lip, Cleft... OMIM:105650
Microphthalmia, Syndromic 1
Chorioretinal coloboma, Agenesis of maxillary lateral incisor, Tooth malposition, Dental crowding... OMIM:309800
Rubinstein-Taybi Syndrome 1
Enamel hypoplasia, Polyhydramnios, Joint hypermobility, Narrow palate, Narrow mouth, Coloboma, De... OMIM:180849
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Coloboma, Everted lower lip vermilion, Cataract, Megalocornea, Opacification of the ... OMIM:253280
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dehydration, Edema, Cardiac arrest, Dilated cardiomyopathy, Pallor ORPHA:20
Letterer-Siwe Disease
Pallor, Stomatitis OMIM:246400
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Refractory Anemia With Excess Blasts
Anemic pallor, Palpitations, Pedal edema, Retinal hemorrhage ORPHA:86839
Hereditary Spherocytosis
Restrictive cardiomyopathy, Gout, Pallor, Skin ulcer ORPHA:822
Dent Disease 1
Rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed epiphyseal ossification, Sp... OMIM:300009
Blackfan-Diamond Anemia
Low anterior hairline, Developmental cataract, Adenocarcinoma of the colon, Developmental glaucom... ORPHA:124
Fibrous Dysplasia Of Bone
Cortical irregularity, Osteolysis, Patchy reduction of bone mineral density, Rickets, Fibrous dys... ORPHA:249
Roberts-Sc Phocomelia Syndrome
Polyhydramnios, Craniosynostosis, Coloboma, Sparse hair, Stillbirth, Patent ductus arteriosus, Ca... OMIM:268300
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Talon cusp, Carious teeth, Narrow palate, Coloboma, Cardiac conduction abnormality, Dental crowdi... ORPHA:353281
Cold Agglutinin Disease
Pallor ORPHA:56425
Townes-Brocks Syndrome
Chorioretinal coloboma, Iris coloboma, Wide mouth, Patent ductus arteriosus, Cataract, Rectovagin... ORPHA:857
Infantile Systemic Hyalinosis
Osteoporosis, Camptodactyly of finger, Recurrent fractures, Osteomalacia, Joint stiffness, Increa... ORPHA:2176
Dermatosparaxis Ehlers-Danlos Syndrome
Osteoporosis, Rickets, Joint hyperflexibility, Osteomalacia, Joint stiffness, Osteopenia ORPHA:1901
Microphthalmia, Isolated 8
Coloboma OMIM:615113
Monosomy 13Q14
Cataract, Iris coloboma ORPHA:1587
Adenohypophysitis
Hyponatremia, Orthostatic hypotension, Pallor ORPHA:95512
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Polyhydramnios, Carious teeth, Narrow palate, Coloboma, Cardiac conduction abnormality, Dental cr... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Polyhydramnios, Carious teeth, Narrow palate, Coloboma, Cardiac conduction abnormality, Dental cr... ORPHA:353277
Senior-Loken Syndrome 8
Pallor OMIM:616307
Non-Functioning Pituitary Adenoma
Hypotension, Pallor, Abnormal hair quantity ORPHA:91349
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Von Hippel-Lindau Disease
Palpitations, Arrhythmia, Abnormal left ventricular function, Hypertension, Myocardial infarction... ORPHA:892
Panhypophysitis
Hyponatremia, Orthostatic hypotension, Pallor ORPHA:95513
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Enthesitis, Incr... ORPHA:289176
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron, Pallor OMIM:616959
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Osteoarthritis, Osteomalacia OMIM:307800
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor, Conjunctival icterus OMIM:194380
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Tay-Sachs Disease
Pallor OMIM:272800
Elliptocytosis 1
Pallor OMIM:611804
Thauvin-Robinet-Faivre Syndrome
Macroglossia, Coloboma, Thick vermilion border OMIM:617107
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Wilson Disease
Osteoporosis, Joint hypermobility, Osteomalacia, Osteoarthritis OMIM:277900
Childhood Absence Epilepsy
Pallor ORPHA:64280
Aregenerative Anemia
Pallor ORPHA:101096
Neu-Laxova Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Rickets, Flexion contracture, Osteomalacia, Ost... ORPHA:2671
Microphthalmia, Syndromic 6
Flexion contracture of thumb, Coloboma, Lambdoidal craniosynostosis, Microglossia, Microcornea, S... OMIM:607932
Dent Disease
Rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed epiphyseal ossification, Sp... ORPHA:1652
Mccune-Albright Syndrome
Recurrent fractures, Aneurysmal bone cyst, Fibrous dysplasia of the bones, Osteomalacia, Polyosto... ORPHA:562
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Bile Acid Synthesis Defect, Congenital, 1
Rickets OMIM:607765
Fanconi-Bickel Syndrome
Rickets, Osteopenia ORPHA:2088
Cystinosis
Rickets ORPHA:213
Hypophosphatemic Rickets
Rickets, Craniofacial osteosclerosis, Enthesitis, Fibrous dysplasia of the bones, Hyperostosis, O... ORPHA:437
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Rickets, Osteomalacia ORPHA:309031
Fanconi-Bickel Syndrome
Osteomalacia OMIM:227810
Fanconi Anemia, Complementation Group D2
Anemic pallor, Tracheoesophageal fistula, Patent ductus arteriosus, Esophageal atresia OMIM:227646
Rajab Interstitial Lung Disease With Brain Calcifications 1
Joint laxity, Rickets, Reduced bone mineral density, Thin bony cortex, Osteopenia OMIM:613658
Fanconi Anemia, Complementation Group C
Anemic pallor, Flexion contracture OMIM:227645
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets OMIM:212750
Distal Renal Tubular Acidosis
Rickets, Reduced bone mineral density, Osteomalacia, Increased susceptibility to fractures ORPHA:18
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Occipital Horn Syndrome
Osteoporosis, Osteolysis, Synostosis of joints, Rickets, Joint hyperflexibility, Osteomalacia, Os... ORPHA:198
Fanconi Anemia, Complementation Group A
Anemic pallor OMIM:227650
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Patent ductus arteriosus, Tricuspid regurgitation, Tachycardia, Pulmon... ORPHA:99125
Oculocerebrorenal Syndrome Of Lowe
Joint hyperflexibility, Recurrent fractures, Osteomalacia, Joint stiffness, Abnormality of the ri... ORPHA:534
Cystinosis, Nephropathic
Rachitic rosary, Rickets, Hypophosphatemic rickets OMIM:219800
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteoporosis, Rickets, Abnormally ossified vertebrae, Osteomalacia, Osteopenia ORPHA:2636
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Increased susceptibility to fractures, Osteomalacia ORPHA:3337
Infantile Nephropathic Cystinosis
Rickets ORPHA:411629
Goodpasture Syndrome
Pulmonary hemorrhage, Pallor OMIM:233450
Lowe Oculocerebrorenal Syndrome
Joint hypermobility, Camptodactyly of finger, Rickets, Osteomalacia, Pathologic fracture, Joint c... OMIM:309000
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Abnormal calcification of the carpal bones, 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.

There is no histopathology data for Slc13a4

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

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

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