Gene Summary

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

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
increased circulating calcium level Zdhhc20em1(IMPC)Hmgu HOM Early adult 8.02×10-07
abnormal tail morphology Zdhhc20em1(IMPC)Hmgu HOM Early adult 3.55×10-05
abnormal tooth morphology Zdhhc20em1(IMPC)Hmgu HOM Early adult 4.84×10-05
decreased bone mineral content Zdhhc20em1(IMPC)Hmgu HOM   Early adult 7.87×10-05

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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 Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 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
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Adamantinoma
Hypercalcemia ORPHA:55881
Amelogenesis Imperfecta, Type Ij
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta OMIM:617297
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel OMIM:613211
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho... ORPHA:83451
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Dentin Dysplasia
Abnormality of dental morphology, Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Hypercalcemia ORPHA:2668
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Metacarpal periosteal thickening, Hyperphosphatemia, Hypercalcemia, Calvarial osteosc... OMIM:617994
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Osteopenia, Generalized osteoporosis, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Oculocerebrodental Syndrome
Hypocalcemia, Retrognathia, Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypopl... ORPHA:557003
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... OMIM:618386
Hypophosphatasia
Abnormality of the dentition, Hypercalcemia, Craniosynostosis ORPHA:436
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... ORPHA:49042
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypercalcemia, Craniosynostosis OMIM:614732
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal s... OMIM:144750
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemia, Carious teeth, Hypocalcemic tetany, Cal... ORPHA:93324
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta OMIM:104510
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Hypocalcemia OMIM:619073
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Osteomalacia, Tooth abscess, Rickets ORPHA:89937
Infantile Myofibromatosis
Bone cyst, Osteolysis, Gingival fibromatosis, Hypercalcemia ORPHA:2591
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Paget Disease Of Bone 2, Early-Onset
Premature loss of teeth, Sclerosis of skull base, Osteolysis, Hypercalcemia, Osteosclerosis of th... OMIM:602080
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia, Rickets OMIM:612089
Hypophosphatasia, Infantile
Craniosynostosis, Elevated plasma pyrophosphate, Decreased calvarial ossification, Abnormality of... OMIM:241500
Fibrous Dysplasia Of Bone
Hypophosphatemia, Fibrous dysplasia of the bones, Irregularly spaced teeth, Abnormal facial skele... ORPHA:249
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Pyle Disease
Reduced bone mineral density, Delayed eruption of teeth, Carious teeth, Hypoplastic frontal sinus... OMIM:265900
Familial Isolated Hypoparathyroidism
Hypocalcemia, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2238
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Hypophosphatemia, Hypocalcemia, Abnormality of the dentition, Osteomalacia, Premature ... ORPHA:93160
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Delayed eruption of teeth, En... ORPHA:94089
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Reduced bone mineral density ORPHA:172
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Tooth malposition, Osteopenia, Micrognathia, Hypercalcemia OMIM:156400
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Hypophosphatemic Rickets
Hypophosphatemia, Fibrous dysplasia of the bones, Periapical tooth abscess, Abnormality of the de... ORPHA:437
Hypercalcemia, Infantile, 1
Infantile hypercalcemia, Thick lower lip vermilion OMIM:143880
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Increased blood urea nitrogen, Hypercalcemia, Craniosynostosis ORPHA:251004
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Osteomalacia, Hypocalcemia OMIM:179800
Tricho-Dento-Osseous Syndrome
Taurodontia, Increased bone mineral density, Periapical tooth abscess, Microdontia, Widely spaced... ORPHA:3352
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth OMIM:619787
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
High palate, Eruption failure, Abnormality of the dentition, Micrognathia, Long philtrum, Hyperca... ORPHA:476126
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hy... ORPHA:405
Albers-Sch├Ânberg Osteopetrosis
Mandibular osteomyelitis, Hypocalcemia, Abnormality of the dentition, Carious teeth, Generalized ... ORPHA:53
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia OMIM:600740
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Carious teeth, Calvarial osteosclerosis, Decreased skull ossification OMIM:244460
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Oculoskeletodental Syndrome
Macroglossia, Oligodontia, Hypocalcemia, Hypercalcemia OMIM:618440
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... ORPHA:1028
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Thin vermilion border, Patchy osteosclerosis, Micrognathia, Long philtrum, Bifid uv... OMIM:241410
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Hypocalcemia, Osteomal... ORPHA:289157
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia OMIM:145981
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Epidermolysis Bullosa, Junctional 1A, Intermediate
Enamel hypoplasia, Oral mucosal blisters, Hypodontia, Carious teeth OMIM:226650
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Thymic Neuroendocrine Tumor
Osteopenia, Hypercalcemia ORPHA:97289
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Premature loss of teeth, High, narrow palate, Malar flattening, Craniosynostosis, Osteopenia, Mic... ORPHA:369837
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Taurodontia, Pulp calcification, Enamel hypoplasia, Hyperphosphatemia, Hyperostosis, Subperiostea... OMIM:211900
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Ring Chromosome 10 Syndrome
Thin vermilion border, Micrognathia, Hypocalcemia, Long philtrum ORPHA:1438
Autoimmune Hypoparathyroidism
Hypocalcemia, Increased bone mineral density, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemi... ORPHA:36913
Sanjad-Sakati Syndrome
Hypocalcemia, Thin vermilion border, Patchy osteosclerosis, Abnormality of the dentition, Microgn... ORPHA:2323
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Increased bone mineral density, Craniosynostosis, Osteopetrosis, Carious teeth, Cal... OMIM:259700
Timothy Syndrome
Thin upper lip vermilion, Hypocalcemia, Microdontia OMIM:601005
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypophosphatemia, Hypercalcemia OMIM:239200
Mastocytosis
Osteoporosis, Hypercalcemia ORPHA:98292
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Hypophosphatasia, Adult
Premature loss of primary teeth, Osteomalacia, Premature loss of permanent teeth, Carious teeth, ... OMIM:146300
Hyperparathyroidism-Jaw Tumor Syndrome
Mandibular pain, Hypophosphatemia, Osteoporosis, Hypercalcemia, Infantile hypercalcemia ORPHA:99880
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Late-Onset Isolated Acth Deficiency
Hyponatremia, Generalized bone demineralization, Hypercalcemia, Hyperuricemia ORPHA:199299
Parathyroid Carcinoma
Mandibular pain, Hypophosphatemia, Osteoporosis, Hypercalcemia, Infantile hypercalcemia ORPHA:143
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypoalbuminemia ORPHA:398063
Monosomy 13Q34
Infantile hypercalcemia, Micrognathia ORPHA:96168
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemi... OMIM:103580
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Yellow-brown discoloration of the teeth, Amelogenesis imperfec... ORPHA:1946
Jalili Syndrome
Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormality of dental color ORPHA:1873
Pycnodysostosis
Narrow palate, Persistence of primary teeth, Increased bone mineral density, Hypodontia, Microgna... OMIM:265800
Multiple Myeloma
Osteopenia, Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Bartter Syndrome, Type 1, Antenatal
Hypomagnesemia, Hypokalemia, Osteopenia, Increased circulating renin level, Hypercalcemia, Increa... OMIM:601678
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypoplasia of teeth, Hypophosphatemic rickets, Carious teeth OMIM:613312
Acute Adrenal Insufficiency
Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia, Hyperkalemia ORPHA:95409
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Gracile Bone Dysplasia
Ankyloglossia, Hypocalcemia, Decreased skull ossification OMIM:602361
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Alveolar ridge overgrowth, Hypocalcemia, Cleft palate, Hypoproteinemia, Malar flatte... OMIM:235255
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Increased bone mineral density, Ectopic ossification, Delayed eruption of teeth, En... ORPHA:79444
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Tented upper lip vermilion OMIM:606407
Addison Disease
Increased circulating renin level, Generalized bone demineralization, Hyponatremia, Hyperuricemia... ORPHA:85138
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Diaphyseal sclerosis, Persistence of primary teeth, Osteopetrosis, Cari... OMIM:259710
Pheochromocytoma
Hypercalcemia OMIM:171300
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Hypocalcemia OMIM:618476
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Osteopetrosis, Autosomal Recessive 5
Gingival overgrowth, Hypocalcemia, Increased bone mineral density, Decreased osteoclast count, Hy... OMIM:259720
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Increased bone mineral density, Reduced bone mineral density, Ectopic ossification,... ORPHA:79443
X-Linked Agammaglobulinemia
Glossoptosis, Sinusitis, Hypocalcemia ORPHA:47
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Osteoporosis, Enamel hypoplasia, Stomatitis, Recurrent aphthous stomatitis, Rickets OMIM:212750
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked delay in erup... OMIM:104570
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Increased bone mineral density, Hyperphosphatemia, Transient hypophosphatemia, Thic... OMIM:127000
Williams Syndrome
Wide mouth, Osteopenia, Microdontia, Carious teeth, Thick lower lip vermilion, Increased bone min... ORPHA:904
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... ORPHA:31824
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hypercalcemia, Hyponatremia ORPHA:88673
Oncogenic Osteomalacia
Hypophosphatemia, Fibrous dysplasia of the bones, Hypocalcemia ORPHA:352540
Congenital Disorder Of Glycosylation, Type Ig
Short philtrum, Hypocalcemia, Thin upper lip vermilion OMIM:607143
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Osteopetrosis With Renal Tubular Acidosis
High palate, Narrow mouth, Hypocalcemia, Persistence of primary teeth, Tooth malposition, Osteope... ORPHA:2785
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia ORPHA:99845
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Persistence of primary teeth, Carious teeth, Hypocalc... ORPHA:93325
Hennekam Syndrome
Gingival overgrowth, Tooth agenesis, Hypocalcemia, Narrow mouth, Supernumerary tooth, Craniosynos... ORPHA:2136
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Glucagonoma
Stomatitis, Glossitis, Hypercalcemia ORPHA:97280
Multiple Endocrine Neoplasia Type 2
Abnormal tongue morphology, Thick vermilion border, Hypercalcemia ORPHA:653
Double Outlet Right Ventricle
Narrow mouth, Hypocalcemia, Cleft palate, Submucous cleft hard palate ORPHA:3426
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Alveolar ridge overgrowth, Hypocalcemia, Hypoproteinemia, Micrognathia, Thin upper l... ORPHA:1655
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Ppoma
Hypercalcemia ORPHA:97278
Velocardiofacial Syndrome
Hypocalcemia, Velopharyngeal insufficiency, Cleft palate, Retrognathia, Open mouth, Pierre-Robin ... OMIM:192430
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Reduced bone mineral density ORPHA:428
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Reduced bone mineral density, Osteopetrosis, Craniosynostosis, Pr... ORPHA:667
Cranioectodermal Dysplasia 1
High palate, Anodontia, Hypocalcemia, High, narrow palate, Hypodontia, Everted lower lip vermilio... OMIM:218330
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Somatostatinoma
Hypercalcemia ORPHA:97283
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Multiple Endocrine Neoplasia Type 1
Osteolysis, Gingival fibromatosis, Hypercalcemia, Reduced bone mineral density ORPHA:652
Williams-Beuren Syndrome
Dental malocclusion, Hypodontia, Malar flattening, Osteopenia, Long philtrum, Microdontia, Osteop... OMIM:194050
Grfoma
Hypercalcemia ORPHA:97261
Cholera
Abnormal blood ion concentration, Hypokalemia, Hyponatremia, Hypocalcemia ORPHA:173
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... ORPHA:26793
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... ORPHA:94093
Craniofacioskeletal Syndrome
Hypocalcemia, Cleft palate, Micrognathia, Short philtrum, Hypoplastic frontal sinuses, Thin upper... OMIM:300712
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... ORPHA:411634
Bacterial Toxic-Shock Syndrome
Sinusitis, Hypocalcemia, Elevated circulating creatine kinase concentration, Elevated circulating... ORPHA:36234
Sarcoidosis
Bone cyst, Parotitis, Enlargement of parotid gland, Hypercalcemia ORPHA:797
Cartilage-Hair Hypoplasia
Gingival overgrowth, Hypocalcemia, Abnormal bone ossification, Abnormally ossified vertebrae, Abn... ORPHA:175
Enamel-Renal Syndrome
Abnormal dental enamel morphology, Gingival overgrowth, Delayed eruption of teeth, Yellow-brown d... ORPHA:1031
Sotos Syndrome
No permanent dentition, Hypodontia, Craniosynostosis, Abnormality of the dentition, Hypercalcemia... ORPHA:821
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Malar flattening, Absent/hypoplastic paranasal sinuses, Hypoplasia of the nasal bon... ORPHA:280651
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany ORPHA:73224
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Hypoa... ORPHA:37042
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Igg4-Related Thyroid Disease
Sialadenitis, Hypocalcemia ORPHA:64744
Rajab Interstitial Lung Disease With Brain Calcifications 1
High palate, Hypocalcemia, Reduced bone mineral density, Osteopenia, Thin bony cortex, Unconjugat... OMIM:613658
22Q11.2 Deletion Syndrome
Narrow mouth, Hypocalcemia, Cleft palate, Malar flattening, Abnormality of the dentition, Short p... ORPHA:567
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Cleft palate, Short philtrum, Thin upper lip vermilion ORPHA:163979
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Cleft palate, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Median cleft lip and palate, Hyperal... ORPHA:699
Gitelman Syndrome
Hypocalcemia, Hypomagnesemia, Hypokalemia, Hypermagnesemia ORPHA:358
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
High palate, Wide mouth, Hypomagnesemia, Hypocalcemia, Narrow mouth, Micrognathia, Agenesis of pe... OMIM:619503
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyperkalemia, Hyponatremia ORPHA:544482
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:466650
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, ... OMIM:619991
Digeorge Syndrome
High palate, Hypocalcemia, High, narrow palate, Cleft palate, Micrognathia, Short philtrum, Bifid... OMIM:188400
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Thymic Aplasia
Hypocalcemic tetany, Sinusitis ORPHA:83471
Johanson-Blizzard Syndrome
Agenesis of permanent teeth, Increased VLDL cholesterol concentration, Hypocalcemia, Hypoplasia o... OMIM:243800
Charge Syndrome
Cleft upper lip, Hypocalcemia, Malar flattening, Cleft palate, Micrognathia OMIM:214800

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) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Zdhhc20em1(IMPC)Hmgu Exon Deletion Mice
Zdhhc20tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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