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

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.

Eye Morphology

Images Ophthalmoscopy

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E18.5

Images

6 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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X-ray

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