Gene: Zdhhc20 MGI:1923215

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Gene Summary

Name:
zinc finger, DHHC domain containing 20
Synonyms:
B230110O18Rik,  5033406L14Rik,  ENSMUSG00000055956,  4930542A17Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral content Zdhhc20em1(IMPC)Hmgu HOM   Early adult 5.12×10-05
abnormal tooth morphology Zdhhc20em1(IMPC)Hmgu HOM Early adult 6.93×10-05
increased circulating calcium level Zdhhc20em1(IMPC)Hmgu HOM Early adult 9.48×10-07
abnormal tail morphology Zdhhc20em1(IMPC)Hmgu HOM Early adult 5.38×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Zdhhc20 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zdhhc20 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology, Increased bone mineral density ORPHA:1653
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Hypercalcemia ORPHA:2668
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Metacarpal periosteal thickening, Hypercalcemia, Osteopenia, Calvarial osteosclerosis, Hyperphosp... OMIM:617994
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Generalized osteoporosis, Hypercalcemia, Infantile hypercalcemia, Osteopenia ORPHA:99879
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Dental Ankylosis
Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenesis ORPHA:1077
Oculocerebrodental Syndrome
Enamel hypoplasia, Hypocalcemia, Oligodontia, Abnormality of the dentition, Hypercalcemia, Microd... ORPHA:557003
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization OMIM:614832
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Hypophosphatasia
Craniosynostosis, Hypercalcemia, Abnormality of the dentition ORPHA:436
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Carious teeth, Cortical thickening of long bone diaphyses, Hypocalcemic tetany, Dec... ORPHA:93324
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification OMIM:125420
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Carious teeth, Delayed eruption of primar... OMIM:265800
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Osteopenia, Hypocalcemia OMIM:619073
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Torus palat... OMIM:144750
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Rickets, Tooth abscess, Osteomalacia ORPHA:89937
Infantile Myofibromatosis
Hypercalcemia, Bone cyst, Osteolysis, Gingival fibromatosis ORPHA:2591
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Fibrous Dysplasia Of Bone
Hypophosphatemia, Abnormality of the sphenoid sinus, Osteolysis, Patchy reduction of bone mineral... ORPHA:249
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Hypophosphatasia, Infantile
Craniosynostosis, Elevated plasma pyrophosphate, Decreased calvarial ossification, Abnormality of... OMIM:241500
Pyle Disease
Delayed eruption of teeth, Carious teeth, Mandibular prognathia, Hypoplastic frontal sinuses, Red... OMIM:265900
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal dental enamel morphology, Hypocalcemia ORPHA:2238
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Osteolysis, Bone cyst, Abnormality of the dentition, Coarse metap... ORPHA:93160
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Persistence of primary teeth, Hypodontia OMIM:125350
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth, Hypocalcemia, Increased bone density with cystic ch... ORPHA:94089
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Hypocalcemia ORPHA:172
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Tooth malposition, Hypercalcemia, Osteopenia, Micrognathia OMIM:156400
Hypercalcemia, Infantile, 1
Infantile hypercalcemia, Thick lower lip vermilion OMIM:143880
Hypophosphatemic Rickets
Hypophosphatemia, Rickets, Tooth abscess, Craniofacial osteosclerosis, Periapical tooth abscess, ... ORPHA:437
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Periapical tooth abscess, Agenesis of incisor, Increased bone mi... ORPHA:3352
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Craniosynostosis, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Infantile hypercalcemia, Hy... ORPHA:405
Albers-Sch├Ânberg Osteopetrosis
Hypocalcemia, Carious teeth, Generalized osteosclerosis, Abnormality of the dentition, Mandibular... ORPHA:53
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Osteomalacia, Hypermagnesemia, Hypercalcemia OMIM:600740
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Carious teeth, Decreased skull ossification, Hypomagnesemia, Calvarial osteosclerosis OMIM:244460
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Long philtrum, Dental crowding, Abnormality of the dentition, Hypercalcemia, Eruption failure, Hi... ORPHA:476126
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental color, Abnorm... ORPHA:1028
Oculoskeletodental Syndrome
Macroglossia, Hypocalcemia, Oligodontia, Hypercalcemia OMIM:618440
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Long philtrum, Thin vermilion border, Hypocalcemia, Bifid uvula, Micrognathia, Hyperphosphatemia,... OMIM:241410
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth, Hypocalcemia, Hypocalcemic seizures, Hypophosphatem... ORPHA:289157
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Smooth philtrum, Thin up... OMIM:129540
Teeth, Supernumerary
Mesiodens, Supernumerary tooth OMIM:187100
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Pulp calcification, Taurodontia, Subperiosteal bone formation, Hyperostosis, C... OMIM:211900
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Eruption failure, Alveo... OMIM:273050
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth OMIM:614564
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Long philtrum, Craniosynostosis, Downturned corners of mouth, Tented upper lip vermilion, Hypertr... ORPHA:369837
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Thymic Neuroendocrine Tumor
Osteopenia, Hypercalcemia ORPHA:97289
Ring Chromosome 10 Syndrome
Long philtrum, Thin vermilion border, Micrognathia, Hypocalcemia ORPHA:1438
Sanjad-Sakati Syndrome
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Hypocalcemia, Abnormalit... ORPHA:2323
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Osteomalacia OMIM:179800
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Increased bone mineral density, Hyperphosphatemia, Hypocalcemi... ORPHA:36913
Familial Parathyroid Adenoma
Hypophosphatemia, Osteopenia, Generalized osteoporosis, Hypercalcemia ORPHA:99877
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Carious teeth, Craniosynostosis, Osteopetrosis, Increased bone mineral density, Cal... OMIM:259700
Hypophosphatasia, Adult
Carious teeth, Rickets, Premature loss of permanent teeth, Premature loss of primary teeth, Osteo... OMIM:146300
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Hypercalcemia OMIM:239200
Timothy Syndrome
Thin upper lip vermilion, Hypocalcemia, Microdontia OMIM:601005
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Hyperparathyroidism-Jaw Tumor Syndrome
Osteoporosis, Hypophosphatemia, Mandibular pain, Hypercalcemia, Infantile hypercalcemia ORPHA:99880
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Mastocytosis
Osteoporosis, Hypercalcemia ORPHA:98292
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Hypoplasia of teeth, Carious teeth OMIM:613312
Late-Onset Isolated Acth Deficiency
Hyponatremia, Generalized bone demineralization, Hypercalcemia, Hyperuricemia ORPHA:199299
Parathyroid Carcinoma
Osteoporosis, Hypophosphatemia, Mandibular pain, Hypercalcemia, Infantile hypercalcemia ORPHA:143
Primary Parathyroid Hyperplasia
Osteoporosis, Hypercalcemia, Hypophosphatemia ORPHA:99878
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Refractory Celiac Disease
Osteoporosis, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Monosomy 13Q34
Infantile hypercalcemia, Micrognathia ORPHA:96168
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Supernumerary tooth, Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone ORPHA:3145
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Osteopetrosis With Renal Tubular Acidosis
Carious teeth, Abnormality of dental morphology, Mandibular prognathia, Osteopetrosis, Reduced bo... ORPHA:2785
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Osteopetrosis, Gingival overgrowth, Micrognathia OMIM:259720
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Glossitis, Xerostomia, Hypokalemia, Hypomagnesemia OMIM:175500
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Tented upper lip vermilion OMIM:606407
Bartter Syndrome, Type 1, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypercalcemia, ... OMIM:601678
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Smooth philtrum, Thin upper lip vermilion, Cleft palate, Alveolar ... OMIM:235255
Multiple Myeloma
Osteopenia, Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Delayed eruption of teeth, Hypocalcemia, Hypocalcemic tetany, Increased bone m... ORPHA:79444
Addison Disease
Generalized bone demineralization, Hyponatremia, Hyperuricemia, Increased circulating renin level... ORPHA:85138
Acute Adrenal Insufficiency
Hyponatremia, Hyperuricemia, Increased circulating renin level, Hypercalcemia, Hyperkalemia ORPHA:95409
Craniometadiaphyseal Dysplasia
Carious teeth, Dental crowding, Mandibular prognathia, Natal tooth, High palate, Malar flattening... OMIM:269300
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Mandibular prognathia, Osteopetrosis, Persistence of primary teeth, Cranial hypero... OMIM:259710
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Osteopetrosis OMIM:618476
Gracile Bone Dysplasia
Ankyloglossia, Decreased skull ossification, Hypocalcemia OMIM:602361
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Delayed eruption of teeth, Hypocalcemia, Hypocalcemic tetany, Increased bone m... ORPHA:79443
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Pheochromocytoma
Hypercalcemia OMIM:171300
X-Linked Agammaglobulinemia
Hypocalcemia, Glossoptosis, Sinusitis ORPHA:47
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Thic... OMIM:127000
Celiac Disease, Susceptibility To, 1
Osteoporosis, Enamel hypoplasia, Hypocalcemia, Rickets, Stomatitis, Recurrent aphthous stomatitis OMIM:212750
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Fibrous dysplasia of the bones ORPHA:352540
Williams Syndrome
Open bite, Carious teeth, Abnormal dental enamel morphology, Abnormal circulating lipid concentra... ORPHA:904
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Osteopenia, Carious teeth OMIM:126550
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:31824
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Cortical thickening of long bone diaphyses, Persistence of primary teeth, Hypocalc... ORPHA:93325
Hennekam Syndrome
Delayed eruption of teeth, Short philtrum, Craniosynostosis, Hypocalcemia, Narrow mouth, Abnormal... ORPHA:2136
Congenital Disorder Of Glycosylation, Type Ig
Thin upper lip vermilion, Hypocalcemia, Short philtrum OMIM:607143
Multiple Endocrine Neoplasia Type 2
Abnormal tongue morphology, Hypercalcemia, Thick vermilion border ORPHA:653
Craniolenticulosutural Dysplasia
Long philtrum, Thin vermilion border, Carious teeth, Delayed eruption of teeth, Hypoplasia of tee... ORPHA:50814
Double Outlet Right Ventricle
Hypocalcemia, Narrow mouth, Submucous cleft hard palate, Cleft palate ORPHA:3426
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Glucagonoma
Hypercalcemia, Glossitis, Stomatitis ORPHA:97280
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Smooth philtrum, Thin upper lip vermilion, Alveolar ridge overgrow... ORPHA:1655
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Hypokalemia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Cranioectodermal Dysplasia 1
Osteoporosis, Enamel hypoplasia, Hypocalcemia, Everted lower lip vermilion, Anodontia, Hypodontia... OMIM:218330
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Neuroleptic Malignant Syndrome
Hypocalcemia, Drooling, Excessive salivation, Hypernatremia, Hyponatremia, Hyperuricemia, Elevate... ORPHA:94093
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia ORPHA:428
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia ORPHA:90363
Primary Intestinal Lymphangiectasia
Osteoporosis, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:90362
Ppoma
Hypercalcemia ORPHA:97278
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Velocardiofacial Syndrome
Hypocalcemia, Open mouth, Pierre-Robin sequence, Cleft palate, Retrognathia, Velopharyngeal insuf... OMIM:192430
Multiple Endocrine Neoplasia Type 1
Reduced bone mineral density, Hypercalcemia, Osteolysis, Gingival fibromatosis ORPHA:652
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Rickets, High palate, Reduced bone mineral density, Hypoalbuminemia, Thin bony cort... OMIM:613658
Somatostatinoma
Hypercalcemia ORPHA:97283
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Williams-Beuren Syndrome
Osteoporosis, Long philtrum, Open mouth, Dental malocclusion, Hypodontia, Hypercalcemia, Osteopen... OMIM:194050
Grfoma
Hypercalcemia ORPHA:97261
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Craniofacioskeletal Syndrome
Hypocalcemia, Short philtrum, Hypoplastic frontal sinuses, Thin upper lip vermilion, Cleft palate... OMIM:300712
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Delayed eruption of teeth, Hypocalcemia, Craniosynostosis, Osteopetrosis, Prema... ORPHA:667
Cholera
Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Increased circulating free fatty acid level, Elevated circulating ... ORPHA:26793
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Sinusitis, Elevated... ORPHA:36234
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Cartilage-Hair Hypoplasia
Hypocalcemia, Abnormal bone ossification, Abnormal palate morphology, Abnormally ossified vertebr... ORPHA:175
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit... ORPHA:1031
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hypoplasia of the nasal bone, Absent/hypoplastic paranasal sinuses, Mandibular prog... ORPHA:280651
Sotos Syndrome
Craniosynostosis, Abnormality of the dentition, Hypodontia, Hypercalcemia, Delayed eruption of pe... ORPHA:821
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Sarcoidosis
Enlargement of parotid gland, Bone cyst, Hypercalcemia, Parotitis ORPHA:797
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Hypoalbuminemia, Hypo... ORPHA:37042
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany ORPHA:73224
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Short philtrum, Hyperbilirubinemia, Thin upper lip vermilion, Cleft palate ORPHA:163979
22Q11.2 Deletion Syndrome
Long philtrum, Carious teeth, Short philtrum, Abnormal dental enamel morphology, Narrow mouth, Hy... ORPHA:567
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures, Cleft palate ORPHA:2237
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Pearson Syndrome
Hypophosphatemia, Median cleft lip and palate, Hypocalcemia, Hypokalemia, Hyperalaninemia, Hypoma... ORPHA:699
Digeorge Syndrome
Hypocalcemia, Short philtrum, Cleft palate, Bifid uvula, High palate, High, narrow palate, Microg... OMIM:188400
Gitelman Syndrome
Hypomagnesemia, Hypocalcemia, Hypermagnesemia, Hypokalemia ORPHA:358
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Hyponatremia ORPHA:544482
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:466650
Aplasia Of Lacrimal And Salivary Glands
Xerostomia, Carious teeth OMIM:180920
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Charge Syndrome
Hypocalcemia, Cleft upper lip, Cleft palate, Micrognathia, Malar flattening OMIM:214800
Johanson-Blizzard Syndrome
Hypocalcemia, Increased VLDL cholesterol concentration, Agenesis of permanent teeth, Hypoplasia o... OMIM:243800

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 Zdhhc20

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 Zdhhc20.

No publications found that use IMPC mice or data for Zdhhc20.

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MGI Allele Allele Type Produced
Zdhhc20tm209483(L1L2_Bact_P) Targeting vectors
Zdhhc20em1(IMPC)Hmgu Exon Deletion Mice

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