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Gene: Phykpl MGI:1920197

Gene Summary

Name:

5-phosphohydroxy-L-lysine phospholyase

Synonyms:

2900006B13Rik, Agxt2l2

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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	Allele	Zyg	Life Stage	P Value
increased startle reflex	Phykpl^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.33×10^-06
decreased circulating creatinine level	Phykpl^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.63×10^-13
decreased circulating alkaline phosphatase level	Phykpl^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.92×10^-09
abnormal retina morphology	Phykpl^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	9.66×10^-06
increased circulating phosphate level	Phykpl^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.78×10^-08
abnormal locomotor activation	Phykpl^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.65×10^-06
decreased prepulse inhibition	Phykpl^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.48×10^-05
increased circulating calcium level	Phykpl^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.47×10^-07

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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.

Phenotype associated images not available

Human diseases caused by Phykpl 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.

Human diseases associated with Phykpl (1 diseases)
Human diseases predicted to be associated with Phykpl (367 diseases)

The table below shows human diseases associated to Phykpl by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Phosphohydroxylysinuria		Phosphohydroxylysinuria	OMIM:615011

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

Disease	Matching phenotypes	Source
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:94090
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Adamantinoma	Hypercalcemia	ORPHA:55881
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Hypocalcemia	OMIM:618618
Myopathy, Tubular Aggregate, 2	Falls, Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Blue Diaper Syndrome	Hypercalcemia, Hyperphosphatemia	ORPHA:94086
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Autoimmune Hypoparathyroidism	Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Difficulty walking, Hypocalcemia, Hyperkalemi...	ORPHA:99845
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hydroxyprolinuria, Retinopathy, Hyperuricemia, Angioid streaks of the fundus, ...	OMIM:239000
Pseudohypoparathyroidism Type 1B	Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:94089
Aceruloplasminemia	Blepharospasm, Decreased circulating iron concentration, Ataxia, Macular degeneration, Increased ...	ORPHA:48818
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hypercalcemia, Hyperphosphatemia, Angioid streaks of the fundus, Calcinosis	OMIM:211900
Autosomal Dominant Hypocalcemia	Optic atrophy, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Fatigable weakness, Writer's cramp	ORPHA:428
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Papilledema, Transient hypophosphatemia, Retinal calcification	OMIM:127000
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Tremor, Decreased serum creatinine, Ataxia	OMIM:612736
Non-Functioning Paraganglioma	Hypertensive retinopathy, Hypercalcemia, Tremor	ORPHA:94080
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Tremor, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Spinocerebellar Ataxia Type 27	Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr...	ORPHA:98764
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hypercalcemia	ORPHA:99879
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemia, Hypophosphatemic rickets	OMIM:241520
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:241410
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, L...	ORPHA:240094
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Hyperphosphatemia	OMIM:617994
Neuroleptic Malignant Syndrome	Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circu...	ORPHA:94093
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Hypophosphatasia	Hypercalcemia	ORPHA:436
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypertensive retinopathy, Hypercalcemia	OMIM:171420
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Elevated creatine kinase after exercise	ORPHA:284426
Dent Disease 2	Aminoaciduria, Hypophosphatemia, Elevated circulating creatine kinase concentration	OMIM:300555
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic atrophy, Akinesia, Truncal ataxia, Hyperalaninemia, Optic disc pallor, Optic neuropathy, Ch...	OMIM:618249
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen, Abnormal retinal morphology on macular OCT, Macular...	ORPHA:251004
Parkinson Disease 17	Akinesia, Resting tremor, Tremor	OMIM:614203
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Abnormal retinal morphology	OMIM:219750
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic tetany, Papilledema, Retinal calcification, Hypocalcemic seizures	ORPHA:93325
Spinal Cord Injury	Hypercalcemia, Allodynia	ORPHA:90058
Linear Verrucous Nevus Syndrome	Hypophosphatemia, Retinopathy, Aplasia/Hypoplasia of the fovea	ORPHA:2611
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalcemia, Waddling gait	OMIM:156400
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Shuffling gait, Resting tremor, Inability to walk, Akinesia, Gait a...	ORPHA:391411
Aceruloplasminemia	Blepharospasm, Decreased circulating iron concentration, Increased circulating ferritin concentra...	OMIM:604290
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Pseudohypoparathyroidism Type 1C	Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemi...	ORPHA:79444
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Hypophosphatemia, Hypercalcemia, Calcinosis	OMIM:239200
2P21 Microdeletion Syndrome	Cystinuria, Hypocalcemia	ORPHA:163693
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia	ORPHA:35710
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypophosphatemia, Hypercalcemia	OMIM:600740
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Akinesia, Freezing of gait, Dystonia	OMIM:619911
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypertensive retinopathy, Hypercalcemia, Tremor	ORPHA:276621
Spinocerebellar Ataxia Type 21	Akinesia, Gait ataxia, Tremor, Progressive cerebellar ataxia	ORPHA:98773
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia	OMIM:612526
C3 Glomerulopathy	Elevated circulating creatinine concentration, Yellow/white lesions of the retina, Central serous...	ORPHA:329918
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemi...	ORPHA:79443
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Hypophosphatemic rickets, Aminoaciduria	OMIM:618913
Cystinosis	Aminoaciduria, Retinopathy, Hypokalemia, Hypophosphatemia, Gait disturbance	ORPHA:213
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Shuffling gait, Macular degeneration, Dysdiadochokinesis, Resting tremor, Akinesia, Gait ataxia, ...	ORPHA:247234
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem...	ORPHA:157215
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Hydroxyprolinuria	OMIM:602080
Spinocerebellar Ataxia 21	Postural tremor, Limb ataxia, Gait ataxia, Akinesia, Ataxia, Dystonia, Intention tremor, Progress...	OMIM:607454
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Papilledema, Hyperkalemia	OMIM:620366
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Acrodysostosis 1 With Or Without Hormone Resistance	Optic atrophy, Hyperphosphatemia	OMIM:101800
Apparent Mineralocorticoid Excess	Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level	OMIM:218030
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	OMIM:618440
Corticobasal Syndrome	Akinesia, Limb dystonia, Tremor, Gait disturbance, Dystonia	ORPHA:454887
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Gait ataxia, Hypercalcemia, Tremor	ORPHA:476126
Coach Syndrome 2	Elevated circulating creatinine concentration, Chorioretinal coloboma	OMIM:619111
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:89937
Pheochromocytoma	Hypertensive retinopathy, Hypercalcemia	OMIM:171300
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Aminoaciduria, Hypophosphatemia	OMIM:308990
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Hereditary Pheochromocytoma-Paraganglioma	Retinal capillary hemangioma, Hypertensive retinopathy, Hypercalcemia, Tremor	ORPHA:29072
Refractory Celiac Disease	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi...	OMIM:248250
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Difficulty walking, Hypophosphatemia, Hypocalcemia	OMIM:600081
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Ataxia, Hype...	ORPHA:466650
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Difficulty walking, Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures	OMIM:264700
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia	ORPHA:93324
Multiple Myeloma	Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia	ORPHA:29073
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Hyperuricemia	ORPHA:199299
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Gait disturbance, Hypocalcemia	ORPHA:93160
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Abnormal circulating calcium concentration, Difficulty walking, Hypophosphatemia, Hypophosphatemi...	OMIM:241530
Acute Adrenal Insufficiency	Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level	ORPHA:95409
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Fibrous Dysplasia Of Bone	Difficulty walking, Antalgic gait, Hypophosphatemia, Hypercalcemia	ORPHA:249
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia, Aminoaciduria	OMIM:134600
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia, Aminoaciduria	OMIM:616026
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets, Waddling ...	OMIM:307800
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Akinesia, Gait imbalance, Axial dystonia, Tremor, Dystonia	ORPHA:240071
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Oncogenic Osteomalacia	Hypophosphatemia, Gait disturbance, Hypocalcemia	ORPHA:352540
Hemorrhagic Fever-Renal Syndrome	Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia	ORPHA:340
Congenital Myopathy 12	Abnormal circulating creatine kinase concentration, Akinesia	OMIM:612540
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Akinesia, Tremor	OMIM:300894
Colchicine Poisoning	Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Kufor-Rakeb Syndrome	Akinesia, Tremor, Gait disturbance, Torticollis, Ataxia, Dystonia	OMIM:606693
Hypotonia-Cystinuria Syndrome	Cystinuria, Hypocalcemia	OMIM:606407
Perry Syndrome	Short stepped shuffling gait, Dystonia, Akinesia, Tremor	OMIM:168605
Albers-Schönberg Osteopetrosis	Optic atrophy, Hypocalcemia	ORPHA:53
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Dystonia, Hyperuricemia	ORPHA:79233
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration	OMIM:179830
Manganese Poisoning	Dystonia, Gait disturbance, Akinesia, Postural tremor	ORPHA:306682
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H...	OMIM:601678
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp...	OMIM:619743
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Vitamin D-Dependent Rickets, Type 2A	Difficulty walking, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Fanconi Renotubular Syndrome 2	Generalized aminoaciduria, Hypophosphatemia	OMIM:613388
Fanconi-Bickel Syndrome	Hypouricemia, Generalized aminoaciduria, Hyperbilirubinemia, Increased serum bile acid concentrat...	OMIM:227810
Juvenile Nephropathic Cystinosis	Hypouricemia, Aminoaciduria, Elevated circulating creatinine concentration, Hypocalcemic tetany, ...	ORPHA:411634
Addison Disease	Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level	ORPHA:85138
Lethal Congenital Contracture Syndrome 2	Akinesia, Degenerative vitreoretinopathy	OMIM:607598
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level	OMIM:605115
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Difficulty walking, Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures	ORPHA:289157
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Hypophosphatemia	OMIM:605911
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Optic disc pallor, Optic atrophy, Exaggerated startle response	OMIM:609541
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalcemia, Hypertriglyceridemia	ORPHA:369837
Papillorenal Syndrome	Macular degeneration, Optic disc coloboma, Retinal coloboma, Elevated circulating creatinine conc...	OMIM:120330
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Akinesia, Increased serum pyruvate, Hyperalaninemia	OMIM:619147
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Optic atrophy, Inability to walk, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis	OMIM:617913
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration, Attenuation of retinal blood vessels	OMIM:614376
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Hypotriglyceridemia, Decreased HDL cholesterol concentration	OMIM:618885
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Difficulty walking, Optic atrophy, Optic disc pallor, Exaggerated startle response	ORPHA:320406
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Difficulty walking, Optic atrophy, Hypocalcemia, Ataxia	OMIM:618476
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration	OMIM:608104
Postencephalitic Parkinsonism	Akinesia, Tremor by anatomical site, Resting tremor, Oculogyric crisis	ORPHA:97349
Parkinson Disease 23, Autosomal Recessive Early-Onset	Akinesia, Limb dystonia, Resting tremor	OMIM:616840
Infantile Nephropathic Cystinosis	Aminoaciduria, Pigmentary retinopathy, Hypokalemia, Hypophosphatemia, Abnormal blood ion concentr...	ORPHA:411629
Hyperparathyroidism-Jaw Tumor Syndrome	Hypophosphatemia, Hypercalcemia	ORPHA:99880
Congenital Myopathy 9A	Akinesia	OMIM:618822
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c...	ORPHA:26793
Parathyroid Carcinoma	Hypophosphatemia, Hypercalcemia	ORPHA:143
Timothy Syndrome	Hypocalcemia	OMIM:601005
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Tip-toe gait, Hypocalcemia	ORPHA:746
Hyperaldosteronism, Familial, Type I	Decreased circulating renin level	OMIM:103900
Apparent Mineralocorticoid Excess	Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level	ORPHA:320
Relapsing Fever	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91547
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia	ORPHA:247353
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemia, Hypophosphatemic rickets	OMIM:300554
Hereditary Fructose Intolerance	Hypermagnesemia, Hypophosphatemia, Hyperuricemia	ORPHA:469
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Fanconi-Bickel Syndrome	Generalized aminoaciduria, Hypophosphatemia, Hypertriglyceridemia	ORPHA:2088
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Athetosis, Decreased circulating renin level	OMIM:615474
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level	OMIM:613677
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen, Tremor	OMIM:274150
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Stiff Person Spectrum Disorder	Difficulty walking, Falls, Exaggerated startle response	ORPHA:3198
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
X-Linked Agammaglobulinemia	Hypocalcemia	ORPHA:47
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Hypocalcemia	OMIM:607143
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration, Retinal dystrophy	OMIM:266900
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Hypocalcemia	OMIM:259700
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Macular edema, Elevated circulating creatinine concentration, Abnormal retinal vascular morpholog...	ORPHA:247691
Alport Syndrome 3A, Autosomal Dominant	Hypophosphatemia, Azotemia	OMIM:104200
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Optic atrophy, Laryngeal dystonia, Cherry red spot of the ma...	ORPHA:845
Cystinosis, Nephropathic	Aminoaciduria, Generalized aminoaciduria, Pigmentary retinopathy, Decreased circulating carnitine...	OMIM:219800
Arthrogryposis Multiplex Congenita 6	Akinesia	OMIM:619334
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Hypomagnesemia, Tremor, Transient hypophosphatemia, Hyperkalemia, Mildly el...	ORPHA:79102
Vipoma	Hypokalemia, Hypercalcemia	ORPHA:97282
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Optic atrophy, Pigmentary retinopathy, Akinesia, Tremor, Retinal degeneration, Gai...	OMIM:234200
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level	ORPHA:231632
Ppoma	Hypercalcemia	ORPHA:97278
Dent Disease 1	Aminoaciduria, Hypophosphatemia	OMIM:300009
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c...	OMIM:608836
Combined Oxidative Phosphorylation Deficiency 58	Ataxia, Optic atrophy, Difficulty walking, Gait ataxia, Hyperprolinemia, Hyperalaninemia, Exagger...	OMIM:620451
Cholera	Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia	ORPHA:173
Somatostatinoma	Hypercalcemia	ORPHA:97283
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Gracile Bone Dysplasia	Hypocalcemia	OMIM:602361
Primary Fanconi Renotubular Syndrome	Hypouricemia, Generalized aminoaciduria, Decreased circulating carnitine concentration, Hypophosp...	ORPHA:3337
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration	ORPHA:79126
Leukodystrophy, Hypomyelinating, 13	Ataxia, Optic atrophy, Exaggerated startle response	OMIM:616881
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin...	ORPHA:36234
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Elevated circulating creatine kinase concentration, Retinal detachment, Exaggerate...	OMIM:253800
Grfoma	Hypercalcemia	ORPHA:97261
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Williams Syndrome	Abnormal circulating lipid concentration, Retinal arteriolar tortuosity, Gait imbalance, Tremor, ...	ORPHA:904
Glucagonoma	Hypercalcemia	ORPHA:97280
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level	ORPHA:231580
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Pearson Syndrome	Pigmentary retinopathy, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalanine...	ORPHA:699
Hereditary Late-Onset Parkinson Disease	Shuffling gait, Dystonia, Resting tremor, Akinesia	ORPHA:411602
Celiac Disease, Susceptibility To, 1	Hypocalcemia, Ataxia	OMIM:212750
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Hyperbilirubinemia, Optic atrophy, Hypocalcemia	OMIM:259720
Gm2 Gangliosidosis, Ab Variant	Cherry red spot of the macula, Dystonia, Exaggerated startle response	ORPHA:309246
Autosomal Recessive Malignant Osteopetrosis	Optic nerve compression, Hypophosphatemia, Hypocalcemia, Tremor	ORPHA:667
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level	ORPHA:231625
Fetal Akinesia Deformation Sequence	Akinesia	ORPHA:994
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re...	OMIM:608643
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Gait ataxia, Dysmetria, Tremor, Exaggerated startle response	OMIM:618056
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Multiple Pterygium Syndrome, Lethal Type	Akinesia	OMIM:253290
Supranuclear Palsy, Progressive, 2	Falls, Postural tremor, Gait imbalance, Retrocollis, Axial dystonia, Akinesia	OMIM:609454
Supranuclear Palsy, Progressive, 1	Falls, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Axial dystonia, Tremor	OMIM:601104
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Decreased circulating prealbumin concentration, Ab...	ORPHA:37042
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Bicarbonaturia	OMIM:229600
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia	OMIM:225790
Spastic Tetraplegia And Axial Hypotonia, Progressive	Ataxia, Exaggerated startle response	OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response	OMIM:620114
Hereditary Amyloidosis With Primary Renal Involvement	Elevated circulating creatinine concentration, Decreased circulating apolipoprotein A-I concentra...	ORPHA:85450
Arthrogryposis Multiplex Congenita 5	Optic disc pallor, Dystonia, Akinesia, Hand tremor	OMIM:618947
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Reduced haptoglobin level	OMIM:301110
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypocalcemia, Rod-cone dystrophy	ORPHA:2237
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Inability to walk, Optic nerve hypoplasia, Exaggerated startle response	OMIM:617864
Multiple Endocrine Neoplasia Type 1	Hypercalcemia	ORPHA:652
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia, Ataxia	ORPHA:31826
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Gaucher Disease, Perinatal Lethal	Opisthotonus, Akinesia	OMIM:608013
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo...	ORPHA:90038
Dent Disease	Renal hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase concentration	ORPHA:1652
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Velocardiofacial Syndrome	Hypocalcemia, Retinal vascular tortuosity	OMIM:192430
Mccune-Albright Syndrome	Hypophosphatemia	ORPHA:562
Oligomeganephronia	Elevated circulating creatinine concentration, Optic disc coloboma	ORPHA:2260
Raine Syndrome	Hypophosphatemia	OMIM:259775
Tay-Sachs Disease	Cherry red spot of the macula, Exaggerated startle response	OMIM:272800
Dpagt1-Cdg	Optic atrophy, Inability to walk, Akinesia, Diffuse optic disc pallor, Tremor, Rod-cone dystrophy...	ORPHA:86309
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Broad-based gait, Dystonia, Ataxia, Exaggerated startle response	ORPHA:438216
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Hypocalcemia, Elevated circulating creatine kinase concentration, Retinal atrophy,...	ORPHA:2785
Oculocerebrorenal Syndrome Of Lowe	Aminoaciduria, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia, ...	ORPHA:534
Williams-Beuren Syndrome	Retinal arteriolar tortuosity, Gait imbalance, Hypercalcemia	OMIM:194050
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Hypocalcemia	ORPHA:175
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Exaggerated startle response	ORPHA:309155
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Sarcoidosis	Hypercalcemia	ORPHA:797
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:49041
Multiple Mitochondrial Dysfunctions Syndrome 7	Dystonia, Hyperglycinemia, Hypernatremia, Exaggerated startle response	OMIM:620423
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Chorioretinal scar, Choroidal neovascularization, Macular edema, Elevated circulat...	ORPHA:91500
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Sandhoff Disease	Cherry red spot of the macula, Ataxia, Exaggerated startle response	OMIM:268800
Asparagine Synthetase Deficiency	Optic nerve hypoplasia, Hypoasparaginemia, Tremor, Exaggerated startle response	OMIM:615574
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Sotos Syndrome	Hypercalcemia, Tremor	ORPHA:821
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Hypocalcemia	ORPHA:163979
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Stiff-Person Syndrome	Opisthotonus, Exaggerated startle response	OMIM:184850
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Hypophosphatemic rickets	ORPHA:289176
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90795
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Sickle Cell Anemia	Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:232
Glycine Encephalopathy With Normal Serum Glycine	Optic atrophy, Exaggerated startle response	OMIM:617301
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Cranioectodermal Dysplasia 1	Hypocalcemia, Retinal dystrophy	OMIM:218330
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia	OMIM:613658
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ...	ORPHA:99826
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Gitelman Syndrome	Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Developmental And Epileptic Encephalopathy 49	Optic atrophy, Exaggerated startle response	OMIM:617281
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	OMIM:202010
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Broad-based gait, Dystonia, Hypocalcemia, Optic nerve hypoplasia	OMIM:620330
Liver Disease, Severe Congenital	Aminoaciduria, Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hy...	OMIM:619991
Hennekam Syndrome	Hypocalcemia	ORPHA:2136
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Dystonia, Exaggerated startle response	ORPHA:521426
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90793
22Q11.2 Deletion Syndrome	Retinal arteriolar tortuosity, Optic atrophy, Hypocalcemia	ORPHA:567
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Exaggerated startle response	OMIM:617527
Gm1 Gangliosidosis Type 1	Cherry red spot of the macula, Exaggerated startle response	ORPHA:79255
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
African Trypanosomiasis	Difficulty walking, Akinesia, Tremor, Optic neuritis, Papilledema, Gait disturbance, Choreoathetosis	ORPHA:3385
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:449395
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Broad-based gait, Falls, Tip-toe gait, Hypomagnesemia, Hypocalcemia	OMIM:619503
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ...	ORPHA:99829
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased circulating iron concentration, Broad-based gait, Inability to walk, Exaggerated startl...	ORPHA:438213
Charge Syndrome	Hypocalcemia, Retinal coloboma	OMIM:214800
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co...	OMIM:619534
Digeorge Syndrome	Hypocalcemia	OMIM:188400
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration	OMIM:243800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hyperkalemia, Decreased circulating renin level	OMIM:201750
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011

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 Phykpl

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 Phykpl.

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

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Phykpl^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Phykpl^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Phykpl^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Phykpl^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Phykpl^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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