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Gene: Slc13a4 MGI:2442367

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Slc13a4em1(IMPC)Hmgu HOM   Early adult 5.67×10-08

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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 Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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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, Cleft palate, Chorioretinal coloboma, Iris coloboma OMIM:120433
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Kahrizi Syndrome
Cataract, Elbow contracture, Knee flexion contracture, Thick vermilion border, Iris coloboma OMIM:612713
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Loose Anagen Syndrome
Abnormal hair morphology, Abnormal hair whorl, Iris coloboma ORPHA:168
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Bilateral cleft lip and palate, Chorioretinal coloboma, Posterior embr... ORPHA:1473
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, White forelock, Iris coloboma, Chorioretinal coloboma OMIM:601706
2Q24 Microdeletion Syndrome
Cataract, Camptodactyly of finger, Abnormality iris morphology, Cleft palate, Coloboma, Abnormal ... ORPHA:1617
Terminal Osseous Dysplasia
Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone... OMIM:300244
Abruzzo-Erickson Syndrome
Cleft palate, Microcornea, Coloboma, Radioulnar synostosis, Chorioretinal coloboma, Iris coloboma... ORPHA:921
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Cataract, Intestinal malrotation, Highly arched eyebrow, Abnormality o... ORPHA:2712
Otodental Syndrome
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Agenesis of premolar, Car... ORPHA:2791
Mulibrey Nanism
Dental crowding, Corneal dystrophy, Thickened cortex of long bones, Congestive heart failure, Den... OMIM:253250
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Iris coloboma, Coloboma, Peters anomaly OMIM:610023
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Chorioretinal coloboma OMIM:616428
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Accessory oral frenulum, Flexion contracture, Osteolysis involving bones of the upper l... ORPHA:88630
Microphthalmia, Syndromic 13
Microcornea, Iris coloboma, Chorioretinal coloboma, Widely-spaced incisors OMIM:300915
Microphthalmia, Isolated, With Coloboma 7
Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Cataract, Macrodontia, Joint stiffness, High, narrow pal... ORPHA:3242
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Coloboma OMIM:251505
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Microphthalmia, Isolated, With Coloboma 5
Iris coloboma, Orofacial cleft, Chorioretinal coloboma OMIM:611638
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C3/C4 vertebral fusion, Iris coloboma, Chorioretinal coloboma, Cervical C5/C6 vertebrae ... OMIM:613702
Cat-Eye Syndrome (Type I)
Iris coloboma, Anal atresia DECIPHER:42
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Microcornea, Patent ductus arteriosus, Iris coloboma OMIM:615147
Hypomelanosis Of Ito
Alopecia, Cataract, Thick lower lip vermilion, Irregularly spaced teeth, Iris coloboma OMIM:300337
Abruzzo-Erickson Syndrome
Coloboma, Radioulnar synostosis, Cleft palate OMIM:302905
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Cataract, Reduced bone mineral density, Abnormal cornea morphology, Hypophosph... ORPHA:2611
Facial Clefting, Oblique, 1
Coloboma, Cleft palate, Cleft upper lip OMIM:600251
Temtamy Syndrome
Thick lower lip vermilion, Joint hyperflexibility, Chorioretinal coloboma, Iris coloboma, Abnorma... ORPHA:1777
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Iris coloboma, Median cleft lip, High palate, Bifid uvula OMIM:155145
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Coloboma, Pulp calcification, T... OMIM:166750
Biemond Syndrome Ii
Iris coloboma OMIM:210350
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... ORPHA:90064
Triploidy
Cataract, Intestinal malrotation, Polyhydramnios, Non-midline cleft lip, Meningocele, Cleft palat... ORPHA:3376
Pai Syndrome
Encephalocele, Median cleft lip, Cleft palate, Bifid uvula, Abnormal oral frenulum morphology, Ir... ORPHA:1993
Unilateral Ocular Duplication
Encephalocele, Abnormal eyebrow morphology, Median cleft lip, Polyhydramnios, Abnormal pupil morp... ORPHA:3374
Cat-Eye Syndrome
Iris coloboma, Anal atresia, Chorioretinal coloboma ORPHA:195
Humero-Radial Synostosis
Tarsal synostosis, Limitation of joint mobility, Meningocele, Chorioretinal coloboma, Elbow ankyl... ORPHA:3265
Branchio-Oculo-Facial Syndrome
Cataract, Deep philtrum, Non-midline cleft lip, Orofacial cleft, Microcornea, Tooth agenesis, Col... ORPHA:1297
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Orofacial cleft, Developmental cataract, Coloboma, Ocular anterior segme... ORPHA:324416
Temtamy Syndrome
Aortic regurgitation, Dental crowding, Highly arched eyebrow, Lens luxation, Ectopia lentis, Hypo... OMIM:218340
Frontofacionasal Dysplasia
Encephalocele, Cataract, Brushfield spots, Non-midline cleft lip, Cleft palate, Microcornea, Limb... ORPHA:1791
Trisomy 13
Median cleft lip, Cataract, Abnormality of the dentition, Abnormal eyelash morphology, High, narr... ORPHA:3378
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Abnormal bone structure ORPHA:46532
Dermatitis, Atopic
Keratoconus, Cataract, Facial erythema, Conjunctivitis, Pallor, Dry skin OMIM:603165
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Osteopenia, Cleft upper lip, Cleft palate, Tooth agenesis, Iris coloboma OMIM:147950
Distal Duplication 18Q
Abnormal dental morphology, Camptodactyly of finger, Abnormal hair pattern, Carious teeth, High p... ORPHA:1716
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Abnormality of the dentition, Craniosynostosis, Deep philtrum, Camptodact... ORPHA:251038
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Highly arched eyebrow, Cleft upper lip, Patent ductus arteriosus, Orofa... OMIM:243310
Anophthalmia Plus Syndrome
Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, Iris coloboma ORPHA:1104
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Microcorne... ORPHA:3214
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Kapur-Toriello Syndrome
Cataract, Intestinal malrotation, Camptodactyly of finger, Cleft upper lip, Patent ductus arterio... OMIM:244300
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Frontonasal Dysplasia 1
Median cleft lip, Cataract, Widow's peak, Anterior basal encephalocele, Widely-spaced maxillary c... OMIM:136760
Hallermann-Streiff Syndrome
Selective tooth agenesis, High, narrow palate, High palate, Chorioretinal coloboma, Sparse hair, ... OMIM:234100
Joint Laxity, Short Stature, And Myopia
Umbilical hernia, Joint hypermobility, Iris coloboma, Chorioretinal coloboma OMIM:617662
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Flexion contracture, High palate, Arthrogryposis multiplex congenita, Iris colob... OMIM:601110
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Microphthalmia, Isolated, With Coloboma 6
Coloboma OMIM:613703
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Osteoporosis, Pallor, Albinism ORPHA:2786
Bresek Syndrome
Alopecia, Aganglionic megacolon, Cleft palate, Neonatal death, Iris coloboma ORPHA:85284
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Palpebral edema, Iris coloboma, Ectopia lentis ORPHA:1259
Congenital Disorder Of Glycosylation, Type Ii
Joint laxity, Cataract, High palate, Iris coloboma OMIM:607906
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Microphthalmia With Brain And Digit Anomalies
Cataract, Sclerocornea, Microcornea, High palate, Chorioretinal coloboma, Iris coloboma ORPHA:139471
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Cleft palate, Palmoplantar cutis laxa, Spina bifida occulta, Iris coloboma OMIM:268850
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Laurence-Moon Syndrome
Cataract, Iris coloboma ORPHA:2377
Goldberg-Shprintzen Megacolon Syndrome
Sparse scalp hair, Aganglionic megacolon, Sparse eyebrow, Cleft palate, Iris coloboma ORPHA:66629
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... ORPHA:231736
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Redundant neck skin, Patent ductus arteriosus, Downturned corners of mou... OMIM:618652
Macrophthalmia, Colobomatous, With Microcornea
Flat cornea, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorioretinal coloboma, ... OMIM:602499
Crouzon Syndrome
Conjunctivitis, Iris coloboma, Narrow palate, Multiple suture craniosynostosis ORPHA:207
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma OMIM:618295
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Atrioventricular block, ... ORPHA:371428
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Coloboma, Hypoplastic iris ... ORPHA:2334
Nizon-Isidor Syndrome
Thin upper lip vermilion, Sparse eyebrow, High, narrow palate, Upper eyelid edema, Downturned cor... OMIM:618872
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Optic disc coloboma, Cleft palate, High palate, Iris coloboma ORPHA:52055
Hajdu-Cheney Syndrome
Osteopenia, Synophrys, Low anterior hairline, Downturned corners of mouth, Coarse hair, Periodont... ORPHA:955
Zika Virus Disease
Edema, Chorioretinal atrophy, Arthritis, Conjunctivitis, Lens subluxation, Iris coloboma ORPHA:448237
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Abnormal hair morphology, Ocular anterior segment dysgenesis, Iris coloboma, Abnormality of the d... OMIM:601427
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:2921
Congenital Hydrocephalus
Iris coloboma ORPHA:2185
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Cataract, Polyhydramnios, Orofacial cleft, Microcornea, Narrow mou... ORPHA:3301
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Uveitis,... OMIM:221900
Donnai-Barrow Syndrome
Umbilical hernia, Iris coloboma, Intestinal malrotation, Widow's peak ORPHA:2143
Microphthalmia, Isolated, With Coloboma 9
Macular coloboma, Sclerocornea, Microcornea, Long philtrum, Ocular anterior segment dysgenesis, I... OMIM:615145
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Sparse eyelashes, Sparse eyebrow, Bilateral cleft lip and palate, High ... OMIM:618874
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Ankle flexion ... ORPHA:536516
Treacher-Collins Syndrome
Low anterior hairline, Glossoptosis, High palate, Abnormality of bone mineral density, Iris colob... ORPHA:861
Kapur-Toriello Syndrome
Intestinal malrotation, Patent ductus arteriosus, Orofacial cleft, Retinal coloboma, Iris coloboma ORPHA:2328
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Spina bifida, Microglossia, Cleft palate, Microcornea, Retinal coloboma,... ORPHA:2839
Microphthalmia, Lenz Type
Delayed eruption of teeth, Cataract, Abnormal dental morphology, Camptodactyly of finger, Abnorma... ORPHA:568
Frontorhiny
Encephalocele, Cataract, Camptodactyly of finger, Widow's peak, Cleft palate, Basal encephalocele... ORPHA:391474
Curry-Jones Syndrome
Intestinal malrotation, Craniosynostosis, Optic disc coloboma, Iris coloboma, Generalized hirsutism ORPHA:1553
Stromme Syndrome
Cataract, Jejunal atresia, Intestinal malrotation, Sclerocornea, Cleft palate, Wide mouth, Microc... OMIM:243605
Gorlin Syndrome
Carious teeth, Vertebral fusion, Cataract, Iris coloboma ORPHA:377
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Focal Dermal Hypoplasia
Coarse metaphyseal trabecularization, Alopecia, Abnormal dental morphology, Abnormal dental ename... ORPHA:2092
Peripheral Cone Dystrophy
Pallor OMIM:609021
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Hijazi-Reis Syndrome
Astigmatism, Iris coloboma OMIM:301094
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Dental crowding, High, narrow palate, Meningocele, Low posterior hairl... ORPHA:2789
Microphthalmia, Isolated 4
Coloboma OMIM:613094
3C Syndrome
Intestinal malrotation, High, narrow palate, Cleft palate, Orofacial cleft, Ectopic anus, Pulmoni... ORPHA:7
Walker-Warburg Syndrome
Cataract, Corneal opacity, Chorioretinal dysplasia, Submucous cleft hard palate, Cleft palate, Mi... ORPHA:899
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Iris coloboma OMIM:212550
Oculoauricular Syndrome
Cataract, Sclerocornea, Spina bifida occulta, Chorioretinal atrophy, Developmental cataract, Micr... OMIM:612109
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Verheij Syndrome
Joint laxity, Thin upper lip vermilion, Vertebral fusion, Branchial cyst, Cleft palate, Coloboma,... OMIM:615583
Cohen Syndrome
Chorioretinal dystrophy, Macrodontia, Aplasia/Hypoplasia of the tongue, Thick hair, Abnormality o... ORPHA:193
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Highly arched eyebrow, Orofacial cleft, Wide mouth, Coloboma, Long phil... OMIM:614583
White-Sutton Syndrome
Joint laxity, Patent ductus arteriosus, Cleft palate, Downturned corners of mouth, Thin vermilion... OMIM:616364
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Anterior encephalocele, Coloboma OMIM:601357
Hajdu-Cheney Syndrome
Osteopenia, Joint laxity, Thick eyebrow, Intestinal malrotation, Short nail, Patent ductus arteri... OMIM:102500
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Patent ductus arteriosus, Rectal atresia, ... OMIM:115470
Microform Holoprosencephaly
Tented upper lip vermilion, Cleft palate, Orofacial cleft, Short philtrum, Solitary median maxill... ORPHA:280200
Joubert Syndrome With Ocular Defect
Encephalocele, Aganglionic megacolon, Highly arched eyebrow, Cleft palate, Orofacial cleft, Retin... ORPHA:220493
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Patent ductus arteriosus, Optic disc coloboma, High palate, Iris coloboma, Bifid uvula OMIM:300472
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma OMIM:274270
Joubert Syndrome With Renal Defect
Encephalocele, Aganglionic megacolon, Highly arched eyebrow, Cleft palate, Orofacial cleft, Iris ... ORPHA:220497
15Q24 Microdeletion Syndrome
Smooth philtrum, Joint laxity, Broad eyebrow, Abnormality of the dentition, Myelomeningocele, Thi... ORPHA:94065
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Cleft palate, Glossoptosis, Radioulnar synostosis, Wrist flexion contracture... ORPHA:436003
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Exaggerated cupid's bow, Joint hypermobility, Patent ductus arteriosus, Wide mouth, Coloboma, Ast... OMIM:618659
Optic Atrophy 1
Pallor OMIM:165500
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Pallor, Oligohydramnios ORPHA:163596
Rere-Related Neurodevelopmental Syndrome
Astigmatism, Chorioretinal coloboma, Peters anomaly, Iris coloboma, Broad eyebrow ORPHA:494344
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Abnormal pupil morphology, Spina bifida o... ORPHA:233
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Cerebrooculonasal Syndrome
Encephalocele, Sparse eyelashes, Craniosynostosis, Sparse eyebrow, Narrow palate, Cleft palate, D... OMIM:605627
Distal Deletion 13Q
Encephalocele, Anencephaly, Iris coloboma, Anal atresia ORPHA:1590
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Lymphedema, Generalized joint laxity, Flexion contractur... ORPHA:536471
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Cutis laxa, Coloboma, Dry skin, Hypertrichosis OMIM:612379
Sturge-Weber Syndrome
Conjunctival telangiectasia, Corneal dystrophy, Pulmonary embolism, Gingival overgrowth, Hyperost... ORPHA:3205
X-Linked Sideroblastic Anemia
Pallor, Abnormality of iron homeostasis ORPHA:75563
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistula, Iris coloboma ORPHA:77298
Non-Functioning Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regi... ORPHA:94080
Oculocerebrocutaneous Syndrome
Alopecia, Corneal opacity, Orofacial cleft, Wide mouth, Iris coloboma ORPHA:1647
Trisomy 18
Cataract, Camptodactyly of finger, Spina bifida, Esophageal atresia, Non-midline cleft lip, Anenc... ORPHA:3380
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Abnormal hair morphology, Deep philtrum, Optic disc coloboma, Synophrys,... ORPHA:251014
Beta-Thalassemia
Skin ulcer, Reduced bone mineral density, Pallor, Abnormality of iron homeostasis, Hypertrophic c... ORPHA:848
Developmental And Epileptic Encephalopathy 93
Iris coloboma OMIM:618012
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Triple A Syndrome
Iris coloboma ORPHA:869
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Thin upper lip vermilion, Highly arched eyebrow, Diastema, Patent ductus arteriosus, Synophrys, L... ORPHA:329224
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Cataract, Microcornea, Iris transillumination defect, Coloboma, O... OMIM:617306
Primary Lateral Sclerosis, Juvenile
Difficulty in tongue movements, Pallor OMIM:606353
Acute Myelomonocytic Leukemia
Abnormality of the gingiva, Pallor ORPHA:517
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Pelvis-Shoulder Dysplasia
Optic disc coloboma, Spina bifida occulta, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Curry-Jones Syndrome
Bicoronal synostosis, Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip p... OMIM:601707
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Coloboma, Cataract, Corneal opacity, Low anterior hairline OMIM:613153
Baraitser-Winter Cerebrofrontofacial Syndrome
Transient ischemic attack, Palpebral edema, Highly arched eyebrow, Joint stiffness, Optic disc co... ORPHA:2995
1Q21.1 Microdeletion Syndrome
Cataract, Patent ductus arteriosus, Joint hyperflexibility, High palate, Long philtrum, Ankyloglo... ORPHA:250989
American Trypanosomiasis
Aganglionic megacolon, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Cardiomyo... ORPHA:3386
Microphthalmia, Syndromic 5
Joint laxity, Cataract, Cleft palate, Microcornea, Coloboma OMIM:610125
Srd5A3-Cdg
Cataract, Abnormal hair morphology, Coloboma, Oligodontia, Hypertrichosis ORPHA:324737
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276556
Scalp-Ear-Nipple Syndrome
Cataract, Palpebral edema, Sparse axillary hair, Sparse pubic hair, Congestive heart failure, Dev... OMIM:181270
Incontinentia Pigmenti
Delayed eruption of teeth, Alopecia, Cataract, Supernumerary nipple, Conical tooth, Keratitis, Er... OMIM:308300
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cataract, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Toot... ORPHA:2250
Microphthalmia, Syndromic 8
Cleft upper lip, Cleft palate, Orofacial cleft, Microcornea, Widely-spaced maxillary central inci... OMIM:601349
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Congestive heart failure, Pallor, Cardiac arrest ORPHA:49827
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Peters anomaly, Junctional ectopic tachycardia, Cleft palate, Anteriorly ... OMIM:309801
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Cataract, Abnormality iris morphology, Macroglossia, Cardiomyopathy, Col... ORPHA:370959
Ritscher-Schinzel Syndrome 1
Cleft palate, Low posterior hairline, Coloboma, Pulmonic stenosis, Aortic valve stenosis, Anal at... OMIM:220210
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Pallor OMIM:613561
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276575
Joubert Syndrome
Encephalocele, Aganglionic megacolon, Highly arched eyebrow, Orofacial cleft, Iris coloboma ORPHA:475
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Highly arched eyebrow, Meningocele, Cleft palate, Intr... OMIM:614424
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Holoprosencephaly
Encephalocele, Hyponatremia, Thick eyebrow, Median cleft lip, Cyclopia, Bilateral cleft lip, High... ORPHA:2162
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Abnormality of upper lip vermillion, Dental crowding, Abnormality of the dentition, N... ORPHA:251028
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... ORPHA:137675
Joubert Syndrome With Oculorenal Defect
Encephalocele, Aganglionic megacolon, Highly arched eyebrow, Chorioretinal coloboma, Iris coloboma ORPHA:2318
Donnai-Barrow Syndrome
Cataract, Intestinal malrotation, Hypoplasia of the iris, Umbilical hernia, Iris coloboma OMIM:222448
White-Sutton Syndrome
Joint laxity, Thin upper lip vermilion, Downturned corners of mouth, Astigmatism, High palate, Sh... ORPHA:468678
Coach Syndrome 2
Hypertension, Coloboma, Chorioretinal coloboma OMIM:619111
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Abnormality of dental color, Alopecia, Corneal opacity, Recurrent fractures, Coloboma... OMIM:163200
Oculogastrointestinal Neurodevelopmental Syndrome
Coloboma, Hirsutism, Anal atresia OMIM:619318
Basal Cell Nevus Syndrome 1
Vertebral fusion, Odontogenic keratocysts of the jaw, Cataract, Spina bifida, Cleft upper lip, Ha... OMIM:109400
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Wide mouth, Macroglossia, Coloboma, Everted lower lip vermilion, Open mouth OMIM:616789
Neuroocular Syndrome
Hyperextensibility of the finger joints, Brittle hair, Synophrys, Lens coloboma, Downturned corne... OMIM:619539
Microphthalmia, Syndromic 2
Flexion contracture, Microcornea, Oligodontia, Fused teeth, Laterally curved eyebrow, Contracture... OMIM:300166
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Biemond Syndrome Type 2
Coloboma ORPHA:141333
Irida Syndrome
Decreased circulating copper concentration, Abnormal intestine morphology, Pallor ORPHA:209981
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Beta-Thalassemia Intermedia
Osteopenia, High-output congestive heart failure, Osteoporosis, Skin ulcer, Reduced bone mineral ... ORPHA:231222
Breath-Holding Spells
Pallor OMIM:607578
Mycophenolate Mofetil Embryopathy
Tracheoesophageal fistula, Orofacial cleft, Hydrops fetalis, Chorioretinal coloboma, Tracheomalac... ORPHA:268249
Hemoglobin D Disease
Pallor ORPHA:90039
Frontofacionasal Dysplasia
Cataract, Cleft upper lip, Orofacial cleft, Microcornea, Bifid uvula, Cranium bifidum occultum, A... OMIM:229400
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Dubowitz Syndrome
Delayed eruption of teeth, Sparse scalp hair, Carious teeth, Velopharyngeal insufficiency, Submuc... OMIM:223370
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Polyhydramnios, Pericardial effusion, Hematochezia, Coloboma, Anasarca, Protein-los... OMIM:618183
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Portal hypertension, Highly arched eyebrow, Optic disc coloboma, Orofaci... ORPHA:1454
8P11.2 Deletion Syndrome
Microcornea, Patent ductus arteriosus, High palate, Iris coloboma ORPHA:251066
Pontocerebellar Hypoplasia, Type 11
Coloboma, Anal atresia OMIM:617695
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Pallor, Narrow mouth, Gl... ORPHA:54028
Evans Syndrome
Pallor, Syncope, Epistaxis, Petechiae ORPHA:1959
Proboscis Lateralis
Abnormal eyebrow morphology, Cataract, Corneal opacity, Abnormal location of the eyebrow, Agenesi... ORPHA:141099
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Malabsorption, Periorbital edema, Congestive heart failur... ORPHA:33226
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Enlargement of the costochondral junction, Delayed epiphyseal ossification, ... OMIM:600081
Stevenson-Carey Syndrome
Pierre-Robin sequence, Downturned corners of mouth, Coloboma, Narrow mouth, Joint contracture of ... OMIM:611961
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Lip pit, Supernumerary nipple, Hypodontia, Iris coloboma, Abnormal palat... ORPHA:1236
Acrocallosal Syndrome
Downturned corners of mouth, Coloboma, High palate, Short philtrum, Prominent palatine ridges, Bi... OMIM:200990
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Rickets, Pallor OMIM:611590
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Joint laxity, Distichiasis, High palate, Pallor OMIM:600462
Joubert Syndrome 16
Encephalocele, Coloboma OMIM:614465
Cyclic Vomiting Syndrome
Cardiomyopathy, Pallor OMIM:500007
Acro-Renal-Ocular Syndrome
Vertebral fusion, Cataract, Aganglionic megacolon, Radial club hand, Optic disc coloboma, Microco... ORPHA:959
Marcus-Gunn Syndrome
Cleft lip, Coloboma, Cleft palate ORPHA:91412
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Synophrys, Cleft palate, Unilatera... OMIM:610828
Smith-Lemli-Opitz Syndrome
Sclerocornea, Polyhydramnios, Advanced eruption of teeth, Iris coloboma, Abnormal dental morpholo... ORPHA:818
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Coloboma, Thin vermilion border, Gingival overgrowth, Long philtrum ORPHA:464288
Adnp Syndrome
Joint laxity, Thin upper lip vermilion, Sparse scalp hair, Thick lower lip vermilion, Hirsutism, ... ORPHA:404448
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Craniosynostosis, Increased nuchal translucency, Cleft palate, Furrowed tongue, Downt... ORPHA:453499
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Congenital Dyserythropoietic Anemia Type Iii
Melena, Increased serum iron, Pallor, Gingival bleeding, Increased total iron binding capacity ORPHA:98870
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Reduced bone mineral density, Hypophosphatemic rickets, Pathologic fracture, Rachit... ORPHA:157215
Solitary Median Maxillary Central Incisor
Cleft upper lip, Prominent median palatal raphe, Coloboma, Torus palatinus, Solitary median maxil... OMIM:147250
Duane-Radial Ray Syndrome
Anal stenosis, Cataract, Aganglionic megacolon, Fused cervical vertebrae, Retinal coloboma, Spina... OMIM:607323
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regi... ORPHA:29072
Joubert Syndrome 23
Coloboma OMIM:616490
Leishmaniasis
Pallor, Abnormal oral mucosa morphology, Skin ulcer, Abnormal oral cavity morphology ORPHA:507
Wolf-Hirschhorn Syndrome
Abnormality of the philtrum, Sclerocornea, Cleft upper lip, Highly arched eyebrow, Osteoporosis, ... ORPHA:280
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thin upper lip vermilion, Natal tooth, Absent nipple, Polyhydramnios, Carious tee... OMIM:620186
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Thin upper lip vermilion, Spina bifida, Generalized joint laxity, Coloboma,... ORPHA:508498
Rheumatic Fever
Pericarditis, Epistaxis, Myocarditis, Erythema, Arthritis, Pallor, Arrhythmia ORPHA:3099
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Alopecia, Corneal opacity, Abnormal eyelash morphology, Bone cyst, Ost... ORPHA:2396
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Enlargement of the costochondral junction, Delayed epiphyseal ossification, ... OMIM:241530
Steinfeld Syndrome
Iris coloboma, Retinal coloboma, Bifid uvula, Median cleft lip and palate OMIM:184705
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Pallor, Lymphedema ORPHA:3226
Hypercholanemia, Familial 1
Rickets OMIM:607748
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Meckel Syndrome, Type 1
Thin upper lip vermilion, Natal tooth, Occipital encephalocele, Intestinal malrotation, Camptodac... OMIM:249000
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Synophrys, Coloboma, Short philtrum, High palate, Chorioretinal coloboma, Ju... OMIM:619475
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Coloboma, Conjunctival hyperemia, Widow's peak OMIM:167730
Jacobsen Syndrome
Smooth philtrum, Cataract, Intestinal malrotation, Spina bifida, Pyloric stenosis, Abnormality of... ORPHA:2308
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Peters Plus Syndrome
Intestinal fistula, Thin upper lip vermilion, Cataract, Exaggerated cupid's bow, Corneal opacity,... ORPHA:709
Phakomatosis Pigmentokeratotica
Spina bifida, Lymphedema, Raynaud phenomenon, Coloboma, Patchy alopecia, Hypophosphatemic rickets... ORPHA:2874
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Colo... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Colo... ORPHA:352665
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Supernumerary nipple, Deep philtrum, Everted lower lip vermilion, High ... OMIM:613884
Focal Dermal Hypoplasia
Brittle hair, Anteriorly placed anus, Oligodontia, Chorioretinal coloboma, Sparse hair, Spina bif... OMIM:305600
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regi... ORPHA:276621
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Coloboma, Cataract, Flexion contracture OMIM:615249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Cataract, Corneal opacity, Cleft upper lip, Meningoencephalocele, Cleft ... OMIM:236670
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Edema, Rectal polyposis, Adenomato... ORPHA:329971
Jacobsen Syndrome
Abnormal eyelash morphology, Pyloric stenosis, Flexion contracture, Microcornea, Chorioretinal co... OMIM:147791
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long eyelashes, Long philtrum OMIM:615877
Joubert Syndrome 22
Coloboma OMIM:615665
Peters-Plus Syndrome
Short lingual frenulum, Limited elbow movement, Polyhydramnios, Anteriorly placed anus, Conical i... OMIM:261540
Dravet Syndrome
Limited knee extension, Pallor ORPHA:33069
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Coloboma, C... ORPHA:2399
Mowat-Wilson Syndrome
Delayed eruption of teeth, Cataract, Aganglionic megacolon, Supernumerary nipple, Pyloric stenosi... OMIM:235730
Anemia, Hypochromic Microcytic, With Iron Overload 2
Elevated transferrin saturation, Pallor, Elevated hepatic iron concentration OMIM:615234
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Pallor ORPHA:90037
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Portal hypertension, Esophageal varix, Wide mouth, Hypert... OMIM:216360
Dominant Beta-Thalassemia
Abnormality of the dentition, High-output congestive heart failure, Dilated cardiomyopathy, Osteo... ORPHA:231226
Esophageal Atresia
Barrett esophagus, Intestinal malrotation, Polyhydramnios, Cleft lip, Pyloric stenosis, Tracheoes... ORPHA:1199
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Retinitis Pigmentosa 51
Pallor OMIM:613464
Limb Body Wall Complex
Encephalocele, Corneal opacity, Spina bifida, Cleft lip, Myelomeningocele, Anencephaly, Cleft pal... ORPHA:2369
Wolf-Hirschhorn Syndrome
Vertebral fusion, Rieger anomaly, Highly arched eyebrow, Cleft upper lip, Malrotation of small bo... OMIM:194190
Retinitis Pigmentosa 75
Pallor, Mixed astigmatism OMIM:617023
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Rachitic rosary OMIM:612089
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Recurrent fractures, Premature loss of primary teeth, Craniosynostosis... ORPHA:667
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Tachycardia, Pallor ORPHA:263455
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Iris coloboma, Chorioretinal coloboma OMIM:615219
Kabuki Syndrome
Abnormal dental morphology, Lip pit, Abnormality of the dentition, Highly arched eyebrow, Orofaci... ORPHA:2322
Charge Syndrome
Delayed eruption of teeth, Highly arched eyebrow, Cleft upper lip, Abnormal soft palate morpholog... ORPHA:138
Idiopathic Pulmonary Hemosiderosis
Pallor, Heart murmur, Diffuse alveolar hemorrhage ORPHA:99931
Myelofibrosis
Myelofibrosis, Pallor, Purpura OMIM:254450
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Astigmatism, Pallor OMIM:609053
Alternating Hemiplegia Of Childhood
Exaggerated cupid's bow, Cardiac conduction abnormality, Dehydration, Downturned corners of mouth... ORPHA:2131
Proximal Renal Tubular Acidosis
Cataract, Band keratopathy, Malabsorption, Enamel hypomineralization, Hypovolemia, Dehydration, R... ORPHA:47159
Primary Myelofibrosis
Portal hypertension, Pallor, Ecchymosis, Petechiae, Purpura ORPHA:824
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Sepsis In Premature Infants
Tachycardia, Edema, Enterocolitis, Bradycardia, Pallor, Hypotension, Petechiae, Purpura ORPHA:90051
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Cataract, Cleft soft palate, Pyloric stenosis, Supernumerary tooth, Astigma... ORPHA:268261
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Enlargement of the costochondral junction, Delayed epiphyseal ossification, ... OMIM:264700
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Osteomalacia, Enlargement of the costochondral junction, Delayed epiphyseal oss... ORPHA:289157
Cree Mental Retardation Syndrome
Coloboma, Cleft soft palate OMIM:606851
Beta-Thalassemia Major
Abnormality of the dentition, High-output congestive heart failure, Dilated cardiomyopathy, Osteo... ORPHA:231214
Bosma Arhinia Microphthalmia Syndrome
Cataract, Cleft lip, Synophrys, Dental malocclusion, Cleft palate, Hypoplasia of teeth, Coloboma,... OMIM:603457
Witteveen-Kolk Syndrome
Joint laxity, Thin upper lip vermilion, Branchial fistula, Cataract, Medial flaring of the eyebro... OMIM:613406
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Polyhydramnios, Corneal erosion, Optic disc coloboma, Cleft palate, Cutis... OMIM:270420
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets OMIM:613388
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Pallor ORPHA:75564
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Myopathy, Mitochondrial, And Ataxia
Thick hair, High palate, Pallor OMIM:617675
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hypertensive crisis, Edema, Intestinal perforation, Myocarditis, Hyperkalemia, Hype... ORPHA:544482
Pituitary Apoplexy
Hyponatremia, Hypertension, Pallor, Hypotension, Mydriasis ORPHA:95613
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Coloboma, Odontogenic keratocysts of the jaw, Chorioretinitis ORPHA:199276
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Cleft upper lip, Lymphedema, Yell... OMIM:153400
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Submucous cleft hard palate, Bilateral cleft l... OMIM:157170
Fumarase Deficiency
Necrotizing enterocolitis, Polyhydramnios, Conjunctival icterus, High palate, Pallor, Ascites OMIM:606812
Beta-Ketothiolase Deficiency
Edema, Dehydration, Hypertension, Pallor, Hypotension ORPHA:134
Multiple Endocrine Neoplasia Type 2
Joint laxity, Aganglionic megacolon, Hypercalcemia, Prominent corneal nerve fibers, Abnormal tong... ORPHA:653
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Peptic ulcer, Osteoporosis, Increased susceptibility to fractures, Syncope, Pallor, ... ORPHA:98849
Bohring-Opitz Syndrome
Cleft lip, Synophrys, Limitation of joint mobility, Bilateral wrist flexion contracture, Cleft pa... ORPHA:97297
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal bone structure, Coarse metaphy... ORPHA:93160
Hereditary Folate Malabsorption
Pallor, Glossitis, Cheilitis ORPHA:90045
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia, Pallor ORPHA:90033
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynau... ORPHA:3260
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Cyclopia, Median cleft lip, Iris coloboma, Orofacial cleft ORPHA:3186
Rubinstein-Taybi Syndrome 1
Dental crowding, Polyhydramnios, High, narrow palate, Flexion contracture, Low anterior hairline,... OMIM:180849
Charge Syndrome
Anal stenosis, Cataract, Polyhydramnios, Cleft upper lip, Esophageal atresia, Patent ductus arter... OMIM:214800
Imerslund-Gräsbeck Syndrome
Tachycardia, Glossitis, Angular cheilitis, Pallor ORPHA:35858
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad eyebrow, Cleft lip, Patent ductus arteriosus, Widow's peak, Furrowed tongue, Coloboma, High... OMIM:616975
Branchiooculofacial Syndrome
Cataract, Supernumerary nipple, Abnormality of the dentition, Malrotation of colon, Cleft upper l... OMIM:113620
Renpenning Syndrome 1
Thin upper lip vermilion, Cataract, Macrodontia, Brittle hair, Cleft palate, Coloboma, Camptodact... OMIM:309500
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bulging of the costochondral junct... OMIM:277440
Sheehan Syndrome
Hyponatremia, Orthostatic hypotension, Sparse axillary hair, Sparse pubic hair, Palpitations, Bra... ORPHA:91355
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased transferrin saturation, Increased serum iron, Pallor, Elevated hepatic iron concentration ORPHA:300298
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia ORPHA:89937
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Dental crowding, Cleft hard palate, Abnormal pupil morphology, Flexion contracture, Microcornea, ... ORPHA:261552
Degcags Syndrome
Osteopenia, Polyhydramnios, Synophrys, Low anterior hairline, Premature graying of hair, High pal... OMIM:619488
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Linear Nevus Sebaceus Syndrome
Alopecia, Iris coloboma ORPHA:2612
Refractory Anemia With Excess Blasts
Palpitations, Anemic pallor, Retinal hemorrhage, Pedal edema ORPHA:86839
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Edema, Dilated cardiomyopathy, Dehydration, Pallor, Hypotension ORPHA:20
X-Linked Hypophosphatemia
Craniosynostosis, Beaded ribs, Generalized osteosclerosis, Enlargement of the costochondral junct... ORPHA:89936
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma ORPHA:42775
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Microphthalmia, Syndromic 3
Vertebral fusion, Cataract, Sclerocornea, Esophageal atresia, Patent ductus arteriosus, Coloboma OMIM:206900
Prolactinoma
Osteopenia, Abnormal hair quantity, Osteoporosis, Pallor, Hypotension ORPHA:2965
Mowat-Wilson Syndrome
Dental crowding, Cleft hard palate, Flexion contracture, Widely spaced teeth, Iris coloboma, Bifi... ORPHA:2152
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Malabsorption, Erythema, Hydrops fetalis, Dehydration, Pallor, Steatorrhea, Punc... OMIM:557000
Tsh-Secreting Pituitary Adenoma
Osteopenia, Abnormal hair quantity, Supraventricular arrhythmia, Pericardial effusion, Congestive... ORPHA:91347
Diamond-Blackfan Anemia
Cleft soft palate, Nonimmune hydrops fetalis, Cleft lip, Developmental glaucoma, Low anterior hai... ORPHA:124
Diamond-Blackfan Anemia 1
Tricuspid stenosis, Cleft upper lip, Congestive heart failure, Primary congenital glaucoma, Cleft... OMIM:105650
Microphthalmia, Syndromic 1
Dental crowding, Aganglionic megacolon, Cleft upper lip, High, narrow palate, Rectal prolapse, Py... OMIM:309800
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets OMIM:211600
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility ORPHA:1901
Hereditary Spherocytosis
Restrictive cardiomyopathy, Skin ulcer, Pallor, Gout ORPHA:822
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Cold Agglutinin Disease
Pallor ORPHA:56425
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Dental crowding, Cleft hard palate, Flexion contracture, Short philtrum, Iris coloboma, Bifid uvu... ORPHA:261537
Pyruvate Kinase Deficiency Of Red Cells
Nonimmune hydrops fetalis, Pallor OMIM:266200
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Coloboma, Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Joint laxity, Natal tooth, Cataract, Dental crowding, Intestinal malrotation, Cardiac conduction ... ORPHA:353281
Dent Disease 1
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Abnormal r... ORPHA:249
Adenohypophysitis
Hyponatremia, Orthostatic hypotension, Pallor ORPHA:95512
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria, Cleft palate OMIM:257910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Buphthalmos, Coloboma, Everted lower lip vermilion, Pallor, Opacification of the cornea... OMIM:253280
Infantile Systemic Hyalinosis
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... ORPHA:2176
Letterer-Siwe Disease
Stomatitis, Pallor OMIM:246400
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Osteoarthritis, Rickets, Osteomalacia OMIM:307800
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Panhypophysitis
Hyponatremia, Orthostatic hypotension, Pallor ORPHA:95513
Non-Functioning Pituitary Adenoma
Abnormal hair quantity, Pallor, Hypotension ORPHA:91349
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Polyhydramnios, Coloboma, High palate, Joint laxity, Highly arched eyebrow, Supe... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Polyhydramnios, Coloboma, High palate, Joint laxity, Highly arched eyebrow, Supe... ORPHA:353277
Monosomy 13Q14
Cataract, Iris coloboma ORPHA:1587
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Macular edema, Abnormal left ventricular function, Cardiomyop... ORPHA:892
Roberts-Sc Phocomelia Syndrome
Cataract, Corneal opacity, Ankle flexion contracture, Cleft upper lip, Craniosynostosis, Polyhydr... OMIM:268300
Tay-Sachs Disease
Pallor OMIM:272800
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Thauvin-Robinet-Faivre Syndrome
Pedal edema, Macroglossia, Coloboma, Retinal coloboma, Thick vermilion border OMIM:617107
Townes-Brocks Syndrome
Rectoperineal fistula, Cataract, Patent ductus arteriosus, Anteriorly placed anus, Wide mouth, Re... ORPHA:857
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Conjunctival icterus, Pallor OMIM:194380
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor, Decreased serum iron OMIM:616959
Senior-Loken Syndrome 8
Pallor OMIM:616307
Childhood Absence Epilepsy
Pallor ORPHA:64280
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
Elliptocytosis 1
Pallor OMIM:611804
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Osteopenia, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, P... OMIM:619534
Aregenerative Anemia
Pallor ORPHA:101096
Bile Acid Synthesis Defect, Congenital, 1
Rickets OMIM:607765
Microphthalmia, Syndromic 6
Sclerocornea, Cleft palate, Microcornea, Coloboma, High palate, Lambdoidal craniosynostosis, Micr... OMIM:607932
Cystinosis
Rickets ORPHA:213
Dent Disease
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... ORPHA:1652
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... ORPHA:2671
Mccune-Albright Syndrome
Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia,... ORPHA:562
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Congenital Bile Acid Synthesis Defect Type 2
Rickets ORPHA:79303
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
Esophageal atresia, Patent ductus arteriosus, Anemic pallor, Tracheoesophageal fistula OMIM:227646
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets OMIM:212750
Fanconi Anemia, Complementation Group C
Flexion contracture, Anemic pallor OMIM:227645
Fanconi-Bickel Syndrome
Rickets, Osteomalacia OMIM:227810
Distal Renal Tubular Acidosis
Increased susceptibility to fractures, Rickets, Osteomalacia, Reduced bone mineral density ORPHA:18
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Fanconi Anemia, Complementation Group A
Anemic pallor OMIM:227650
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Osteoporosis, Rickets, Osteolysis, Joint hyperflexibility, Synostosis o... ORPHA:198
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Wilson Disease
Osteoarthritis, Osteoporosis, Osteomalacia, Joint hypermobility OMIM:277900
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Thin bony cortex OMIM:613658
Oculocerebrorenal Syndrome Of Lowe
Recurrent fractures, Osteomalacia, Joint stiffness, Abnormal rib morphology, Joint hyperflexibili... ORPHA:534
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Patent ductus arteriosus, Low-ou... ORPHA:99125
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets ORPHA:2636
Cystinosis, Nephropathic
Hypophosphatemic rickets, Rickets, Rachitic rosary OMIM:219800
Infantile Nephropathic Cystinosis
Rickets ORPHA:411629
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures ORPHA:3337
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Osteomalacia, Rickets, Pathologic fracture, Joint contracture of the han... OMIM:309000
Goodpasture Syndrome
Pallor, Pulmonary hemorrhage OMIM:233450
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Immunodeficiency 82 With Systemic Inflammation
Arthritis, Osteomyelitis, Osteomalacia OMIM:619381
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Osteomalacia, Fused cervica... 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

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