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Gene: Tctn3 MGI:1914840

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Gene Summary

Name:
tectonic family member 3
Synonyms:
4930521E07Rik,  Tect3

Order Alleles

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
decreased circulating total protein level Tctn3em1(IMPC)J HET Early adult 1.70×10-11
abnormal cholesterol homeostasis Tctn3em1(IMPC)J HET Early adult 1.12×10-05
abnormal lens morphology Tctn3em1(IMPC)J HET   Late adult 2.08×10-06
polydactyly Tctn3em1(IMPC)J HOM E18.5 0.00
abnormal embryo size Tctn3em1(IMPC)J HOM E18.5 0.00
abnormal body wall morphology Tctn3em1(IMPC)J HOM E18.5 0.00
preweaning lethality, complete penetrance Tctn3em1(IMPC)J HOM   Early adult 0.00
anophthalmia Tctn3em1(IMPC)J HOM E18.5 0.00
decreased circulating calcium level Tctn3em1(IMPC)J HET Early adult 3.42×10-12

Download data as:  TSV  XLS

Select physiological systems to view:
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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 Skull Dorso Ventral Orientation

10 Images

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Gross Morphology Embryo E18.5

Images

6 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

5 Images

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Eye Morphology

Images Ophthalmoscopy

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Tctn3 mutations

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

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

The table below shows human diseases predicted to be associated to Tctn3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Cataract 44
Developmental cataract OMIM:616509
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Trichomegaly
Cataract OMIM:190330
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Cataract 42
Cataract, Developmental cataract OMIM:115900
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal heart morphology, Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Abno... ORPHA:294975
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Polydactyly, Postaxial, Type A10
Postaxial foot polydactyly, Postaxial polydactyly type A, Postaxial hand polydactyly OMIM:618498
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly, Limited elbow extension, Tapered finger OMIM:300706
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida, Postaxial hand polydactyly ORPHA:945
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Syntelencephaly, Hydrocephalus, Holoprosen... OMIM:609637
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Microhydranencephaly, X-Linked
Holoprosencephaly OMIM:306990
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Hydrocephalus, Congenital, 3, With Brain Anomalies
Polyhydramnios, Hydranencephaly, Holoprosencephaly, Hydrocephalus OMIM:617967
Adamantinoma
Hypercalcemia ORPHA:55881
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Cataract 47
Cataract, Microcornea OMIM:612018
Vissers-Bodmer Syndrome
Holoprosencephaly, Tapered finger OMIM:619033
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Abnormal heart morphology, Azoospermia, Narrow palm, Holoprosencephaly,... ORPHA:1445
Thanatophoric Dysplasia Type 2
Micromelia, Increased nuchal translucency, Encephalocele, Hydrocephalus, Atrial septal defect, Br... ORPHA:93274
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ... OMIM:251255
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Finger syndactyly, Micromelia, Tetralogy of Fallot, Situs inversus totalis, En... ORPHA:1908
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cataract 41
Nuclear cataract OMIM:116400
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Anophthalmia, Polydactyly, Talipes equinovarus, Microphth... OMIM:613885
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Distal Deletion 13Q
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Abnormal metacarpal morp... ORPHA:1590
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Proximal Myotonic Myopathy
Cataract ORPHA:606
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Anterior encephalocele, Ventricular septal defect, Holoprosencephaly, Short femur OMIM:601357
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip... ORPHA:93323
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Adducted thumb ORPHA:2182
Meckel Syndrome, Type 11
Oligohydramnios, Occipital encephalocele, Polydactyly OMIM:615397
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Encephalocele, Lobar holoprosencephaly ORPHA:2117
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Orbital encephalocele, Anophthalmia, Microphthalmia OMIM:164180
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly OMIM:615984
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Ventricular septal defect, Neonatal death, Short foot, Holoprosencephaly, P... OMIM:269860
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Lambotte Syndrome
Preaxial foot polydactyly, Semilobar holoprosencephaly, Ventricular septal defect OMIM:245552
Distal Monosomy 7Q36
Clinodactyly of the 5th finger, Holoprosencephaly, Bilateral single transverse palmar creases, Sy... ORPHA:1636
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Holoprosencephaly, Adducted thumb, Camptodactyly of finger ORPHA:2570
Holoprosencephaly, Semilobar, With Craniosynostosis
Short distal phalanx of finger, Semilobar holoprosencephaly, Coxa valga OMIM:601370
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Meckel Syndrome, Type 2
Intrauterine growth retardation, Encephalocele, Polydactyly, Bowing of the long bones, Omphalocel... OMIM:603194
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal death, Ventricul... OMIM:146510
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... OMIM:617642
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Triploidy
Finger syndactyly, Hydrocephalus, Abnormal cardiac septum morphology, Polyhydramnios, Meningocele... ORPHA:3376
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Meckel Syndrome 14
Postaxial foot polydactyly, Occipital encephalocele, Oligohydramnios, Increased nuchal translucen... OMIM:619879
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele OMIM:213010
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Postaxial Oligodactyly, Tetramelic
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... OMIM:176240
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Holoprosencephaly 11
Holoprosencephaly OMIM:614226
Endocrine-Cerebroosteodysplasia
Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Tibial bowing, Single transverse pa... OMIM:612651
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... ORPHA:65759
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Monosomy 18P
Holoprosencephaly, Brachydactyly, Lymphedema ORPHA:1598
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Microtia-Anotia
Holoprosencephaly OMIM:600674
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... OMIM:617927
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Agnathia-Otocephaly Complex
Polyhydramnios, Holoprosencephaly, Secundum atrial septal defect, Situs inversus totalis OMIM:202650
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Finger syndactyly, Anophthalmia, Microphthalmia, Proximal placement o... ORPHA:139471
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Brachydactyly, Clinodactyly of the 5th finger, Holoprosencephaly,... ORPHA:2163
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Encephalocele, Complete atrioventricular canal defect, Ventricular se... OMIM:264480
Anophthalmia Plus Syndrome
Deviation of finger, Spina bifida, Anophthalmia ORPHA:1104
Dengue Fever
Hypoproteinemia ORPHA:99828
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Proximal placement of thumb OMIM:615433
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Holoprosencephaly, Abnormal morphology of the radius ORPHA:2165
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Trisomy 13
Abnormal pelvic girdle bone morphology, Ectrodactyly, Intrauterine growth retardation, Aplasia/Hy... ORPHA:3378
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Septooptic Dysplasia
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Biemond Syndrome Type 2
Preaxial polydactyly, Microphthalmia ORPHA:141333
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Bardet-Biedl Syndrome 4
Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Hydrolethalus
Micromelia, Anophthalmia, Postaxial hand polydactyly, Microphthalmia, Anencephaly ORPHA:2189
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Ulnar Agenesis And Endocardial Fibroelastosis
Finger aplasia, Endocardial fibroelastosis, Neonatal death, Aplasia of the ulna, Hydrops fetalis OMIM:276822
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Polyhydramnios, Holoprosencephaly, Situs inversus totalis ORPHA:990
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Synostosis of carpal bones, Short ... ORPHA:1106
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94089
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
49,Xxxxy Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Azoospermia, Down-sloping shoulders, Talipes eq... ORPHA:96264
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Partial atriovent... OMIM:615996
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Iniencephaly
Rhizomelia, Spinal dysraphism, Rocker bottom foot, Myelomeningocele, Encephalocele, Talipes equin... ORPHA:63259
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Holoprosencephaly, Hydrocephalus, Ventricular septal defect ORPHA:77298
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Tetralogy of Fallot, Single transverse palmar crease, 2-3 toe syndactyly, Radioulnar synostosis, ... OMIM:614701
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p... OMIM:607361
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Ventricular septal defect, Talipes equinovarus, Holoprosencephaly, 3-4 finger cutaneo... OMIM:612530
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Trisomy 18
Deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Oligohydramnios, Bila... ORPHA:3380
Trisomy 1Q
Toe syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Anophthalmia, Arachnodactyly,... ORPHA:261344
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Cerebrooculonasal Syndrome
Anophthalmia, Postaxial hand polydactyly ORPHA:66625
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Syndactyly, Hydrocephalus, Ventricular septal defect OMIM:602501
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... OMIM:615986
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Cataract 24
Anterior lenticonus, Anterior polar cataract OMIM:601202
1Q41Q42 Microdeletion Syndrome
Talipes equinovarus, Holoprosencephaly ORPHA:250999
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Ventricular septal defect, Bowing of the long bones, Tal... OMIM:614815
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Encephalocele, Transposition of the great arteries, Hydrocephalus, Atrial... OMIM:253800
Omenn Syndrome
Hypoproteinemia OMIM:603554
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Achondrogenesis, Type Ib
Hypoplastic ilia, Micromelia, Umbilical hernia, Stillbirth, Polyhydramnios, Hydrops fetalis, Edema OMIM:600972
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... OMIM:617102
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Metatarsus valgus, Ventricular septal defect, Talipes equinovarus, Atria... ORPHA:261236
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Elbow dislocation, Short thumb, Ectrodactyly, Abnormal morphology of the radiu... ORPHA:2538
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Encephalocele, Hydrocephalus, Abnormal cardiac septum morphology, Postaxial han... ORPHA:2166
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Clinodactyly, Genu valgum, Inguinal hernia, Polydactyly, Flattened epiphysi... OMIM:607131
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Oligohydramnios, Single transverse palmar crease, Neonatal death, 2-3 toe syndac... OMIM:236500
Timothy Syndrome
Hypocalcemia OMIM:601005
Microtia
Holoprosencephaly ORPHA:83463
Orofaciodigital Syndrome Xvii
Clinodactyly, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polyd... OMIM:617926
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Steinfeld Syndrome
Abnormal heart morphology, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hypoplasia ... OMIM:184705
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Foot polydactyly, Aplasia/Hypoplasia of the thumb, Overriding aorta, Hypopla... ORPHA:3186
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Abnormal heart morphology, Death in infancy, Neonatal death, Small the... OMIM:613390
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... OMIM:135750
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Chédiak-Higashi Syndrome
Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:167
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Smith-Lemli-Opitz Syndrome
Hip dislocation, Aplasia/Hypoplasia of the radius, Rhizomelia, Postaxial foot polydactyly, Finger... ORPHA:818
Nephronophthisis 15
Polydactyly OMIM:614845
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Short humerus, Neonatal death, Hand polydactyly, Transposition of ... OMIM:314390
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Ulnar deviation of finger, Umbilical hernia, Camptodactyly of finger, Aniridia, Anophthalmia, Ing... ORPHA:1101
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short long bone, Polydactyly OMIM:613819
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Umbilical hernia, Death in childhood, Talipes equinovarus, Perimembr... OMIM:618651
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Ulnar deviation of th... OMIM:614175
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Situs inversus totalis, Polydactyly, Brac... OMIM:615994
Joubert Syndrome 15
Exencephaly, Preaxial polydactyly OMIM:614464
Conotruncal Heart Malformations
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... OMIM:217095
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Anophthalmia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Townes-Brocks Syndrome 1
Broad thumb, Pseudoepiphyses of second metacarpal, Ventricular septal defect, Atrial septal defec... OMIM:107480
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Intrauterine growth retardation, Hypoplastic ischia, Polydactyly OMIM:616910
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Ventricular septal defect, Postaxial ... OMIM:618142
Holoprosencephaly 14
Alobar holoprosencephaly, Ventricular septal defect, Double outlet right ventricle, Hydrocephalus... OMIM:619895
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Omphalocele, Microphthalmia OMIM:248450
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Matthew-Wood Syndrome
Intrauterine growth retardation, Anophthalmia, Microphthalmia ORPHA:2470
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Optic nerve aplasia, Short 5th metacarpal, Anophthalmia, Bilat... ORPHA:264200
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Vacterl With Hydrocephalus
Intrauterine growth retardation, Anophthalmia, Inguinal hernia, Spina bifida, Hypoplasia of the r... ORPHA:3412
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Postaxial polydactyly, Hand polydactyly,... OMIM:258860
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Polyhydramnios, Postaxial polydactyly, Brachydactyly, Short long bone OMIM:615633
Arthrogryposis Multiplex Congenita 6
Death in childhood, Death in infancy, Neonatal death, Adducted thumb, Polyhydramnios OMIM:619334
Pancreatic Agenesis-Holoprosencephaly Syndrome
Holoprosencephaly, Aplasia/Hypoplasia of the phalanges of the thumb, Semilobar holoprosencephaly ORPHA:556955
Mosaic Variegated Aneuploidy Syndrome
Ascites, Increased nuchal translucency, Subvalvular aortic stenosis, Atrial septal defect, Polyhy... ORPHA:1052
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Small placenta, Intrauterine growth retardation, Inguinal hernia,... ORPHA:397590
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Camptobrachydactyly
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly OMIM:114150
Solitary Median Maxillary Central Incisor
Holoprosencephaly OMIM:147250
Holoprosencephaly
Spinal dysraphism, Tetralogy of Fallot, Branchial anomaly, Encephalocele, Abnormal pulmonary valv... ORPHA:2162
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Postaxial polydactyly, Hydrocephalus, Ventricular septal defect OMIM:219730
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Overlapping toe, Ventricular septal defect, Atrial septal defect, Hol... OMIM:270400
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Ascites, Polydactyly, Bowing of... OMIM:614091
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Meckel Syndrome
Postaxial foot polydactyly, Preaxial hand polydactyly, Oligohydramnios, Situs inversus totalis, E... ORPHA:564
Jacobsen Syndrome
Ventricular septal defect, Atrial septal defect, Brachydactyly, Hydrocephalus, Clinodactyly of th... OMIM:147791
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia ORPHA:90322
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Holoprosencephaly 4
Semilobar holoprosencephaly OMIM:142946
Focal Dermal Hypoplasia
Toe syndactyly, Anophthalmia, Microphthalmia, Foot polydactyly, Short metacarpal, Myelomeningocel... OMIM:305600
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly ORPHA:231140
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia ORPHA:289157
Microform Holoprosencephaly
Tetralogy of Fallot, Holoprosencephaly ORPHA:280200
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Broad thumb, Prominent fingertip pads, Genu valgum, Arachnodactyly, Bicus... OMIM:619721
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2... OMIM:617866
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Walker-Warburg Syndrome
Metatarsus valgus, Anophthalmia, Microphthalmia ORPHA:899
Pallister-Hall Syndrome
Toe syndactyly, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe... ORPHA:672
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Isolated Exencephaly
Polyhydramnios, Holoprosencephaly ORPHA:563612
Joubert Syndrome 7
Postaxial polydactyly, Genu valgum, Encephalocele, Postaxial hand polydactyly OMIM:611560
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Joubert Syndrome 23
Polydactyly OMIM:616490
Celiac Disease, Susceptibility To, 1
Steatorrhea, Hypocalcemia OMIM:212750
Pelger-Huet Anomaly
Short 3rd metacarpal, Umbilical hernia, Upper limb undergrowth, Short 5th metacarpal, Polydactyly... OMIM:169400
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Overlapping toe, Patent foramen ovale, Ventricular septal defect, Single transv... OMIM:613884
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Decreased circulating prealbumin concentration, Ab... ORPHA:37042
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Ventricular septal defect, Postaxial polydactyly, Atrial septal defect, Hydroce... OMIM:614576
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Monosomy 13Q14
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Brachydactyly, Clinodactyly of the 5th finger... ORPHA:1587
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79444
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Tarp Syndrome
Clinodactyly, Tetralogy of Fallot, Oligohydramnios, Single transverse palmar crease, Neonatal dea... OMIM:311900
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Hitchhiker thumb, Semilobar holoprosencephaly, Lobar holoprosencephaly, Neonatal death OMIM:618500
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Laurence-Moon Syndrome
Abnormality of the hand, Polydactyly OMIM:245800
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Houge-Janssens Syndrome 2
Broad hallux, Deviation of the 5th finger, Postaxial polydactyly, Hydrocephalus, Hip dysplasia OMIM:616362
Hypophosphatasia
Hypercalcemia ORPHA:436
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Situs inversus totalis OMIM:615985
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Ventricular septal defect, Postaxial poly... OMIM:615503
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Micromelia, Postaxial polydactyly, Brachydactyly, Hypoplasia of the radius, Omp... OMIM:617895
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, H... OMIM:619991
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Orofaciodigital Syndrome Vi
Hypoplastic left heart, Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand p... OMIM:277170
Congenital Sialidosis Type 2
Umbilical hernia, Ascites, Abnormal heart morphology, Polydactyly, Hydrocephalus, Edema ORPHA:93400
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Arachnoid Cyst
Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:2356
Cerebrooculonasal Syndrome
Encephalocele, Anophthalmia, Postaxial polydactyly, Postaxial hand polydactyly, Optic nerve hypop... OMIM:605627
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypokalemia, Hyponatremia, Hypocalcemia, Calcinosis OMIM:617913
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Myelomeningocele, ... ORPHA:90652
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... OMIM:610828
Epidermolysis Bullosa, Lethal Acantholytic
Widely spaced toes, Sandal gap, Neonatal death, Mitten deformity, Clinodactyly of the 5th finger,... OMIM:609638
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Small hand, Semilobar holoprosencephaly, Clinodactyly, Broad hallux, Contracture of the proximal ... OMIM:301044
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Micromelia, Preaxial polydactyly, Occipital meningocele, Postaxial polydactyly... OMIM:616546
Ring Chromosome 7 Syndrome
Short 5th finger, Slender finger, Small hand, 3-4 toe syndactyly, Genu valgum, Situs inversus tot... ORPHA:1449
Charge Syndrome
Bifid femur, Umbilical hernia, Tetralogy of Fallot, Abnormal tibia morphology, Clinodactyly of th... ORPHA:138
3P25.3 Microdeletion Syndrome
Broad thumb, Broad hallux, Overlapping toe, Postaxial polydactyly, 2-3 finger syndactyly, Microph... ORPHA:435638
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Hartsfield Syndrome
Alobar holoprosencephaly, Semilobar holoprosencephaly, Ectrodactyly, Lobar holoprosencephaly, Syn... OMIM:615465
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Encephalocele, Neonatal death, Talipes equinov... OMIM:108720
20P13 Microdeletion Syndrome
Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly ORPHA:313781
Suleiman-El-Hattab Syndrome
Clinodactyly, Patent foramen ovale, Polydactyly, Ventricular septal defect, Single transverse pal... OMIM:618950
Duane-Radial Ray Syndrome
Radial deviation of the hand, Absent thumb, Optic disc hypoplasia, Short thumb, Shoulder dislocat... OMIM:607323
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Alobar holoprosencephaly, Semilobar holoprosencephaly, Patent foramen ova... OMIM:301043
Chromosome 3Pter-P25 Deletion Syndrome
Intrauterine growth retardation, Overlapping toe, Postaxial polydactyly, Macular hypoplasia, Tape... OMIM:613792
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:158048
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Genu valgum, Complete atrioventricular canal defect, Postaxial pol... OMIM:619142
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap OMIM:615761
Microphthalmia, Syndromic 9
Intrauterine growth retardation, Inguinal hernia, Anophthalmia, Bilateral microphthalmos OMIM:601186
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79443
Retinitis Pigmentosa 89
Postaxial polydactyly, Bicuspid aortic valve OMIM:618955
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Broad hallux, Preaxial polydactyly, Ventricular septal defect, Atrial se... OMIM:615948
Cahmr Syndrome
Lamellar cataract OMIM:211770
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly, Atrial septal defect, Hydrocephalus, Ventricular septal defect OMIM:603387
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia OMIM:259720
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Rhombencephalosynapsis
Finger syndactyly, Polydactyly, Hydrocephalus, Short phalanx of finger, Complete duplication of t... ORPHA:59315
Joubert Syndrome 27
Polydactyly OMIM:617120
Pierson Syndrome
Hypoproteinemia OMIM:609049
Charge Syndrome
Ventricular septal defect, Overriding aorta, Atrial septal defect, Absent radius, Bilateral talip... OMIM:214800
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Thymic Neuroendocrine Tumor
Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Encephalocele, Fibular hypopla... OMIM:616300
Joubert Syndrome 39
Hypoplastic left heart, Postaxial polydactyly, Occipital encephalocele, Joint contracture of the ... OMIM:619562
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Holoprosencephaly 3
Holoprosencephaly OMIM:142945
Pearson Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia, Steatorrhea ORPHA:699
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Hand clenching, Sandal gap, Broad hallux, Umbilical hernia, Anophth... OMIM:300166
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Inguinal hernia, Anophthalmia, Microphthalmia ORPHA:2250
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Holoprosencephaly 9
Alobar holoprosencephaly, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly, Occipital... OMIM:610829
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Meningocele OMIM:614424
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly OMIM:605231
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Broad distal phalanx of finger, Postaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydac... ORPHA:404440
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Cockayne Syndrome Type 1
Anophthalmia ORPHA:90321
Gitelman Syndrome
Hypermagnesemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Primary hyperaldosteronism ORPHA:358
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Lobar holoprosencephaly, 4-5 finger syndactyly, Camptodactyly of finger ORPHA:468631
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Microphthalmia, Syndromic 6
Toe syndactyly, Finger syndactyly, Thumb contracture, Anophthalmia, Single transverse palmar crea... OMIM:607932
Joubert Syndrome 37
Postaxial polydactyly, Microphthalmia OMIM:619185
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Death in childhood, Hip ... OMIM:210710
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Cardiac rhabdomyoma, Cardiac fibroma, Polydactyly... OMIM:109400
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Microphthalmia, Syndromic 3
Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:206900
Genitourinary And/Or Brain Malformation Syndrome
Holoprosencephaly, Syndactyly OMIM:618820
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia OMIM:613658
Bardet-Biedl Syndrome 12
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly OMIM:615989
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Semilobar holoprosencephaly, Xerostomia, Hand polydactyly, Split hand, Split foot OMIM:129900
9Q21.13 Microdeletion Syndrome
Abnormal heart morphology, Hip dysplasia, Polydactyly ORPHA:531151
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Fraser Syndrome
Toe syndactyly, Finger syndactyly, Umbilical hernia, Myelomeningocele, Wide pubic symphysis, Ence... ORPHA:2052
Late-Onset Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperuricemia ORPHA:199299
Fraser Syndrome 1
Bilateral microphthalmos, Myelomeningocele, Cutaneous finger syndactyly, Wide pubic symphysis, En... OMIM:219000
Acute Adrenal Insufficiency
Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypercalcemia, I... ORPHA:95409
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Stippled calcification in carpal... OMIM:302960
Combined Pituitary Hormone Deficiencies, Genetic Forms
Holoprosencephaly, Abnormal digit morphology, Polydactyly ORPHA:95494
Neu-Laxova Syndrome 1
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Ventricular septa... OMIM:256520
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... ORPHA:221120
Orofaciodigital Syndrome Type 6
Finger clinodactyly, Preaxial polydactyly, Abnormal heart morphology, Hand polydactyly, Mesoaxial... ORPHA:2754
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Holoprosencephaly 2
Holoprosencephaly, Alobar holoprosencephaly, Single ventricle, Semilobar holoprosencephaly OMIM:157170
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Intrauterine growth retardation, Inguinal hernia, Single transvers... OMIM:247200
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cone-shaped epiphysis, Occipital encephalocele, Rhizomelic arm shortening, Proximal femoral metap... ORPHA:397715
Mend Syndrome
Aortic valve stenosis, Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe s... OMIM:300960
Joubert Syndrome 21
Occipital encephalocele, Encephalocele, Anophthalmia OMIM:615636
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronism, Hypokalem... OMIM:601678
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly, Intrauterine growth retardation OMIM:615824
22Q11.2 Deletion Syndrome
Hypocalcemia ORPHA:567
Orofaciodigital Syndrome I
Clinodactyly, Radial deviation of finger, Myelomeningocele, Abnormal heart morphology, Polydactyl... OMIM:311200
Holoprosencephaly 1
Alobar holoprosencephaly, Ethmocephaly, Single ventricle OMIM:236100
Proboscis Lateralis
Holoprosencephaly, Patent ductus arteriosus, Ventricular septal defect ORPHA:141099
Rubinstein-Taybi Syndrome 1
Broad thumb, Hypoplastic iliac wing, Mitral valve prolapse, Ventricular septal defect, Talipes eq... OMIM:180849
Stromme Syndrome
Preaxial polydactyly, Hydrocephalus, Stillbirth OMIM:243605
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Radial deviation of finger, Ca... OMIM:249000
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level OMIM:131100
Adnp Syndrome
Broad thumb, Sandal gap, Broad hallux, Umbilical hernia, Inguinal hernia, Single transverse palma... ORPHA:404448
Vater/Vacterl Association
Occipital encephalocele, Short thumb, Preaxial polydactyly, Tetralogy of Fallot, Ventricular sept... OMIM:192350
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Tetralogy of Fallot, Complete atrioventricular canal defect, F... OMIM:617925
Branchiooculofacial Syndrome
Short thumb, Preaxial hand polydactyly, Elbow flexion contracture, Intrauterine growth retardatio... OMIM:113620
Pheochromocytoma
Hypercalcemia OMIM:171300
Addison Disease
Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypercalcemia, I... ORPHA:85138
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level ORPHA:249
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Left ventricular h... OMIM:209900
Orofaciodigital Syndrome V
Postaxial foot polydactyly, Sandal gap, Tetralogy of Fallot, Ventricular septal defect, Postaxial... OMIM:174300
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Broad thumb, Ventricular septal defect, Neonatal death,... OMIM:619534
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Microphthalmia ORPHA:2556
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Hypomagnesemia OMIM:619503
Cranioectodermal Dysplasia 3
Rhizomelia, 2-4 toe syndactyly, Sandal gap, Postaxial polydactyly, 2-3 toe syndactyly, Brachydactyly OMIM:614099
Tarp Syndrome
Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Intrauterine growth retardation, ... ORPHA:2886
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hip dislocation, Small hand, Postaxial polydactyly, Atrial septal defect, Hip dysplasia, Short fo... OMIM:300968
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Acromesomelia, Toe syndactyly, Oligohydramnios, Ventricular septal defect,... ORPHA:464306
Carpenter Syndrome 2
Broad thumb, Umbilical hernia, Preaxial polydactyly, Cutaneous finger syndactyly, Situs inversus ... OMIM:614976
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Single transverse palmar crease, Postaxial polydactyly, Palmoplantar hyperhidrosis, Long fingers,... OMIM:617527
Monosomy 9Q22.3
Palmar pits, Umbilical hernia, Cardiac fibroma, Polydactyly, Hydrocephalus ORPHA:77301
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Abnormal heart morphology, Polydactyly ORPHA:314655
Cranioectodermal Dysplasia 2
Rhizomelia, Clinodactyly, Patent foramen ovale, Polydactyly, Left ventricular hypertrophy, Atrial... OMIM:613610
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia ORPHA:369837
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Joubert Syndrome
Situs inversus totalis, Encephalocele, Hand polydactyly, Hydrocephalus, Foot polydactyly ORPHA:475
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia OMIM:620330
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Bardet-Biedl Syndrome 20
Preaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Atrial septal defect, Posta... OMIM:619471
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Choanal Atresia
Polydactyly ORPHA:137914
Kinsship Syndrome
Death in infancy, Polydactyly, Fibular hypoplasia, Single transverse palmar crease, Coxa valga, D... OMIM:619297
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Inguinal hernia, Postaxial polydactyly, Hip dysplasia, Clinodactyly of the 5th fing... ORPHA:457284
Microphthalmia, Syndromic 1
Joint contracture of the hand, Clinodactyly, Prominent fingertip pads, Radial deviation of finger... OMIM:309800
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Umbilical hernia, Mitral valve prolapse, Patent foramen ovale, Ara... OMIM:610168
Helsmoortel-Van Der Aa Syndrome
Small hand, Prominent fingertip pads, Sandal gap, Short 4th toe, Abnormal heart morphology, Broad... OMIM:615873
Vipoma
Hypokalemia, Hypercalcemia, Increased circulating cortisol level ORPHA:97282
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Hypertrophic cardiomyopathy, Patent foramen ovale, Polydactyly, Sho... ORPHA:17
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Ventricular septal defect, Talipes equinovarus, 2-3 finger syndactyly, Atrial septal... OMIM:312870
Somatostatinoma
Steatorrhea, Hypercalcemia, Increased circulating cortisol level ORPHA:97283
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Cone-shaped epiphysis, Atrioventricular canal defect, Postaxial polydactyly, Short clavicles, Bra... OMIM:617088
Ppoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97278
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Digeorge Syndrome
Hypocalcemia OMIM:188400
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Deep palmar crease, Lipomyelomeningocele, Hip dysplasia, ... OMIM:616580
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Short 5th toe, 2-4 toe cutaneous syndactyly, Abnormal heart morphology, Ol... ORPHA:268261
Leptospirosis
Hyperproteinemia ORPHA:509
Glucagonoma
Steatorrhea, Hypercalcemia, Increased circulating cortisol level ORPHA:97280
Legius Syndrome
Clinodactyly of the 5th finger, Pulmonic stenosis, Mitral valve prolapse, Polydactyly ORPHA:137605
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proxim... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proxim... ORPHA:353277
Zollinger-Ellison Syndrome
Hypercalcemia, Increased circulating cortisol level ORPHA:913
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Khan-Khan-Katsanis Syndrome
Postaxial polydactyly, Buphthalmos, Intrauterine growth retardation, Clinodactyly OMIM:618460
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:453504
Grfoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97261
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:352665
Degcags Syndrome
Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Patent foramen ovale, Ventri... OMIM:619488
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Neurocardiofaciodigital Syndrome
Tetralogy of Fallot, Polydactyly, Atrial septal defect, Double inlet left ventricle, Patent ductu... OMIM:619869
3Mc Syndrome 3
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly OMIM:248340
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Increased circulating cortisol level ORPHA:276152
Loeys-Dietz Syndrome 1
Mitral valve prolapse, Arachnodactyly, Bicuspid aortic valve, Talipes equinovarus, Postaxial poly... OMIM:609192
Rabson-Mendenhall Syndrome
Polydactyly, Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:769
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Culler-Jones Syndrome
Postaxial polydactyly OMIM:615849
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Okamoto Syndrome
Aortic valve stenosis, Abnormal heart morphology, Oligohydramnios, Abnormal left ventricle morpho... ORPHA:2729
Craniofacial Microsomia 1
Occipital encephalocele, Genu valgum, Branchial anomaly, Anophthalmia, Partial duplication of thu... OMIM:164210
Faciocardiomelic Syndrome
Common atrium, Hypoplastic pelvis, Slender long bone, Polydactyly OMIM:612731
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Multiple Endocrine Neoplasia Type 1
Primary hypercortisolism, Hypercalcemia, Increased circulating cortisol level ORPHA:652
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Short thumb, Broad hallux, Preaxial polydactyly, Radial deviation... OMIM:149730
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Apical muscular ventricular septal defect, Clinodactyly of the 5th finger... OMIM:301022
Alstrom Syndrome
Dilated cardiomyopathy, Polydactyly OMIM:203800
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Slender finger, Small hand, Congenital hip dislocation, Cardiomyopathy, Overlapping toe, Postaxia... ORPHA:480880
Williams Syndrome
Hypercalcemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase con... ORPHA:904
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Finger syndactyly, Cardiomyopathy, Abnormal heart morph... ORPHA:110
Sarcoidosis
Hypercalcemia ORPHA:797
Williams-Beuren Syndrome
Hypercalcemia OMIM:194050
Sotos Syndrome
Hypercalcemia ORPHA:821
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto... ORPHA:2753

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 Tctn3

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 Tctn3.

No publications found that use IMPC mice or data for Tctn3.

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MGI Allele Allele Type Produced
Tctn3em1(IMPC)J Exon Deletion Mice
Tctn3tm47188(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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