Gene: Pde1c MGI:108413
Log in to followHuman diseases caused by Pde1c 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 associated to Pde1c by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Deafness, Autosomal Dominant 74 | OMIM:618140 |
The table below shows human diseases predicted to be associated to Pde1c by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Anosmia For Isobutyric Acid | Partial anosmia | OMIM:207000 | |
Anosmia For Butyl Mercaptan | Anosmia | OMIM:270350 | |
Isovaleric Acid, Inability To Smell | Anosmia | OMIM:243450 | |
Anosmia, Isolated Congenital, X-Linked | Anosmia | OMIM:301700 | |
Anosmia, Isolated Congenital | Anosmia | OMIM:107200 | |
Leber Congenital Amaurosis 10 | Hyposmia | OMIM:611755 | |
Musk, Inability To Smell | Anosmia | OMIM:254150 | |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia | Hyposmia | OMIM:615266 | |
Aural Atresia, Congenital | Hyposmia | OMIM:607842 | |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia | Hyposmia | OMIM:615271 | |
Thumb Agenesis, Short Stature, And Immunodeficiency | Anosmia | OMIM:274190 | |
Apnea, Obstructive Sleep | Anosmia | OMIM:107650 | |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia | Anosmia | OMIM:615270 | |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia | Anosmia | OMIM:614858 | |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia | Anosmia | OMIM:612370 | |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia | Abnormality of the sense of smell | OMIM:146110 | |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome | Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell | ORPHA:1135 | |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia | Anosmia | OMIM:615267 | |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia | Hyposmia, Bifid nose, Anosmia | OMIM:614838 | |
Hypogonadotropic Hypogonadism 27 Without Anosmia | Anosmia | OMIM:619755 | |
Body Mass Index Quantitative Trait Locus 19 | Hyposmia, Anosmia | OMIM:617885 | |
Chondrodysplasia Punctata 1, X-Linked Recessive | Short nose, Depressed nasal bridge, Anosmia, Short nasal septum | OMIM:302950 | |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia | Hyposmia, Anosmia | OMIM:612702 | |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia | Hyposmia, Anosmia | OMIM:610628 | |
Leukoencephalopathy With Dystonia And Motor Neuropathy | Hyposmia | OMIM:613724 | |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia | Anosmia | OMIM:614839 | |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia | Anosmia | OMIM:614842 | |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia | Abnormality of the sense of smell | OMIM:229070 | |
Peroxisome Biogenesis Disorder 9B | Anosmia, Total anosmia | OMIM:614879 | |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia | Hyposmia, Anosmia | OMIM:244200 | |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia | Anosmia | OMIM:614880 | |
Hypogonadotropic Hypogonadism 25 With Anosmia | Anosmia | OMIM:618841 | |
Hyperostosis Cranialis Interna | Hyposmia, Anosmia | OMIM:144755 | |
Indifference To Pain, Congenital, Autosomal Recessive | Hyposmia, Anosmia | OMIM:243000 | |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia | Hyposmia, Anosmia | OMIM:614897 | |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome | Anosmia | ORPHA:2057 | |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia | Hyposmia, Anosmia, Choanal atresia | OMIM:147950 | |
Bardet-Biedl Syndrome 19 | Hyposmia | OMIM:615996 | |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature | Wide nasal bridge, Anosmia | OMIM:210745 | |
Parkinson Disease 8, Autosomal Dominant | Hyposmia | OMIM:607060 | |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome | Abnormality of the sense of smell | ORPHA:3201 | |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia | Anosmia | OMIM:616030 | |
Marcus-Gunn Syndrome | Choanal atresia, Abnormality of the sense of smell | ORPHA:91412 | |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome | Abnormal nostril morphology, Short nose, Anosmia | ORPHA:1295 | |
Solitary Median Maxillary Central Incisor | Anosmia, Choanal atresia, Midnasal stenosis, Abnormal nasopharynx morphology, Pyriform aperture s... | OMIM:147250 | |
Huntington Disease | Abnormality of the sense of smell | ORPHA:399 | |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia | Anosmia | OMIM:614841 | |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia | Anosmia | OMIM:614837 | |
Kleine-Levin Syndrome | Parosmia | ORPHA:33543 | |
Bardet-Biedl Syndrome 17 | Hyposmia, Anosmia | OMIM:615994 | |
Johnson Neuroectodermal Syndrome | Bulbous nose, Anosmia, Choanal atresia | ORPHA:2316 | |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii | Hyposmia | OMIM:616488 | |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia | Hyposmia, Anosmia | OMIM:308700 | |
Polyendocrine-Polyneuropathy Syndrome | Abnormality of the sense of smell | OMIM:616113 | |
Hydrolethalus | Abnormality of the sense of smell | ORPHA:2189 | |
Kufor-Rakeb Syndrome | Hyposmia, Anosmia | OMIM:606693 | |
Refsum Disease, Classic | Anosmia | OMIM:266500 | |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy | Anosmia | OMIM:601152 | |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia | Abnormality of the sense of smell | OMIM:228300 | |
Kallmann Syndrome With Spastic Paraplegia | Anosmia | OMIM:308750 | |
Ciliary Dyskinesia, Primary, 1 | Nasal polyposis, Anosmia, Chronic rhinitis | OMIM:244400 | |
8Q21.11 Microdeletion Syndrome | Underdeveloped nasal alae, Wide nose, Abnormality of the sense of smell | ORPHA:284160 | |
Refsum Disease | Anosmia | ORPHA:773 | |
Acro-Renal-Mandibular Syndrome | Abnormality of the sense of smell | ORPHA:958 | |
Campomelic Dysplasia | Depressed nasal bridge, Abnormality of the sense of smell | ORPHA:140 | |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome | Hyposmia, Absent nares, Single naris, Anosmia | ORPHA:2250 | |
Septo-Optic Dysplasia Spectrum | Anosmia | ORPHA:3157 | |
Young-Onset Parkinson Disease | Hyposmia | ORPHA:2828 | |
Kallmann Syndrome-Heart Disease Syndrome | Partial anosmia, Total anosmia | ORPHA:2326 | |
Kallmann Syndrome | Hyposmia, Anosmia | ORPHA:478 | |
Gorlin Syndrome | Wide nasal bridge, Abnormality of the sense of smell | ORPHA:377 | |
Waardenburg Syndrome, Type 4C | Anosmia | OMIM:613266 | |
Moebius Syndrome | Abnormality of the sense of smell | ORPHA:570 | |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia | Anosmia | OMIM:619718 | |
Holoprosencephaly | Hyposmia, Anteverted nares, Anosmia, Choanal atresia, Depressed nasal tip, Depressed nasal ridge,... | ORPHA:2162 | |
8P11.2 Deletion Syndrome | Anosmia, Depressed nasal bridge | ORPHA:251066 | |
Hereditary Late-Onset Parkinson Disease | Hyposmia | ORPHA:411602 | |
Waardenburg Syndrome, Type 2E | Anosmia | OMIM:611584 | |
Superficial Siderosis | Partial anosmia, Anosmia | ORPHA:247245 | |
Bosma Arhinia Microphthalmia Syndrome | Aplasia of the nose, Anosmia, Choanal atresia | OMIM:603457 | |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease | Anosmia | OMIM:609136 | |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies | Hyposmia | OMIM:618653 | |
Meningioma | Abnormality of the sense of smell | ORPHA:2495 | |
Occipital Horn Syndrome | Abnormality of the sense of smell | ORPHA:198 | |
Leopard Syndrome 1 | Hyposmia, Depressed nasal ridge | OMIM:151100 | |
Amoebiasis Due To Free-Living Amoebae | Hyposmia | ORPHA:68 | |
Bardet-Biedl Syndrome | Rhinitis, Prominent nasal bridge, Depressed nasal bridge, Abnormality of the sense of smell | ORPHA:110 | |
Wilson Disease | Hyposmia | OMIM:277900 | |
Charge Syndrome | Anosmia, Depressed nasal bridge, Choanal atresia | ORPHA:138 | |
Lacrimoauriculodentodigital Syndrome | Anosmia, Choanal atresia | ORPHA:2363 | |
Charge Syndrome | Anosmia, Choanal atresia | OMIM:214800 | |
Deafness, Autosomal Dominant 74 | OMIM:618140 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Pde1ctm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Pde1cem1(IMPC)Bay | Exon Deletion | Mice |
Pde1ctm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
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