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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
abnormal locomotor activation	Phykpl^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.65×10^-06
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
increased startle reflex	Phykpl^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.33×10^-06
decreased circulating alkaline phosphatase level	Phykpl^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.92×10^-09
decreased circulating creatinine level	Phykpl^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.63×10^-13
increased circulating calcium level	Phykpl^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.47×10^-07
decreased prepulse inhibition	Phykpl^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.48×10^-05

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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 (346 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	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Adamantinoma	Hypercalcemia	ORPHA:55881
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi...	ORPHA:94090
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Falls, Elevated circulating creatine kinase concentration	OMIM:615883
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Autoimmune Hypoparathyroidism	Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemic seizures	ORPHA:36913
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho...	ORPHA:99845
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Paget Disease Of Bone 5, Juvenile-Onset	Macular scar, Hydroxyprolinemia, Angioid streaks of the fundus, Hyperphosphatemia, Hyperuricemia,...	OMIM:239000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Autosomal Dominant Hypocalcemia	Writer's cramp, Optic atrophy, Fatigable weakness, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Aceruloplasminemia	Abnormality of retinal pigmentation, Torticollis, Decreased circulating ceruloplasmin concentrati...	ORPHA:48818
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia, Angioid streaks of the fundus	OMIM:211900
Saccharopinuria	Citrullinuria, Tremor, Hypercystinemia, Hyperammonemia, Gait ataxia, Cystinuria, Hyperlysinuria, ...	ORPHA:3124
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Papilledema, Retinal calcification, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Non-Functioning Paraganglioma	Tremor, Hypertensive retinopathy, Hypercalcemia	ORPHA:94080
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Ataxia, Tremor	OMIM:612736
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Spinocerebellar Ataxia Type 27	Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr...	ORPHA:98764
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi...	ORPHA:94089
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Tremor, Hypocystinemia	OMIM:617744
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Hype...	ORPHA:94093
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Hypophosphatasia	Hypercalcemia	ORPHA:436
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypertensive retinopathy, Hypercalcemia	OMIM:171420
Dent Disease 2	Aminoaciduria, Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Paternal Uniparental Disomy Of Chromosome 1	Macular dystrophy, Abnormal retinal morphology on macular OCT, Hypercalcemia, Increased blood ure...	ORPHA:251004
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Parkinson Disease 17	Tremor, Resting tremor, Akinesia	OMIM:614203
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic disc pallor, Akinesia, Optic neuropathy, Optic atrophy, Choreoathetosis, Truncal ataxia, Hy...	OMIM:618249
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Unsteady gait, Blepharospasm, Falls, Gait imbalance, Loss of ...	ORPHA:240094
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Retinal calcification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:93325
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
Metaphyseal Chondrodysplasia, Jansen Type	Waddling gait, Hypercalcemia, Hypophosphatemia	OMIM:156400
Linear Verrucous Nevus Syndrome	Retinopathy, Aplasia/Hypoplasia of the fovea, Hypophosphatemia	ORPHA:2611
Aceruloplasminemia	Torticollis, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Acerulop...	OMIM:604290
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi...	ORPHA:79444
Hyperparathyroidism, Neonatal Severe	Calcinosis, Aminoaciduria, Hypercalcemia, Hypophosphatemia	OMIM:239200
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Atypical Juvenile Parkinsonism	Resting tremor, Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Short stepped...	ORPHA:391411
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
2P21 Microdeletion Syndrome	Hypocalcemia, Cystinuria	ORPHA:163693
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Pseudohypoparathyroidism Type 1A	Calcinosis, Choreoathetosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dyst...	ORPHA:79443
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Akinesia, Dystonia, Freezing of gait	OMIM:619911
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Hypertensive retinopathy, Hypercalcemia	ORPHA:276621
Spinocerebellar Ataxia Type 21	Tremor, Progressive cerebellar ataxia, Akinesia, Gait ataxia	ORPHA:98773
Cystinosis	Hypokalemia, Aminoaciduria, Gait disturbance, Hypophosphatemia, Retinopathy	ORPHA:213
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Aminoaciduria, Hypophosphatemia	OMIM:618913
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Waddling gait, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concen...	ORPHA:157215
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Hypercalcemia	OMIM:602080
C3 Glomerulopathy	Drusen, Yellow/white lesions of the retina, Central serous chorioretinopathy, Elevated circulatin...	ORPHA:329918
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Akinesia, Gait ataxia, Macular degeneration, Dysdiadochokinesis, Shufflin...	ORPHA:247234
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Spinocerebellar Ataxia 21	Ataxia, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Dysto...	OMIM:607454
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia, Optic atrophy	OMIM:101800
Osteopetrosis, Autosomal Recessive 9	Papilledema, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Corticobasal Syndrome	Limb dystonia, Akinesia, Tremor, Gait disturbance, Dystonia	ORPHA:454887
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tremor, Hypercalcemia, Gait ataxia	ORPHA:476126
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Aminoaciduria, Hypophosphatemia	OMIM:308990
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	OMIM:618440
Pheochromocytoma	Hypertensive retinopathy, Hypercalcemia	OMIM:171300
Coach Syndrome 2	Elevated circulating creatinine concentration, Chorioretinal coloboma	OMIM:619111
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Retinal capillary hemangioma, Hypertensive retinopathy, Hypercalcemia	ORPHA:29072
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo...	ORPHA:466650
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Difficulty walking, Hypophosphatemia	OMIM:600081
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia	ORPHA:199299
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures	OMIM:264700
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Acute Adrenal Insufficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:95409
Hypocalcemic Vitamin D-Resistant Rickets	Gait disturbance, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Difficulty walking, Hypopho...	OMIM:241530
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Fibrous Dysplasia Of Bone	Antalgic gait, Hypercalcemia, Difficulty walking, Hypophosphatemia	ORPHA:249
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Fanconi Renotubular Syndrome 1	Hypokalemia, Aminoaciduria, Hypophosphatemia	OMIM:134600
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Intermediate Osteopetrosis	Hypocalcemia, Optic atrophy from cranial nerve compression	ORPHA:210110
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Hypouricemia, Hypophosphatemia	OMIM:616026
Oncogenic Osteomalacia	Gait disturbance, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Akinesia, Tremor, Blepharospasm, Falls, Gait imbalance, Dystonia	ORPHA:240071
Congenital Myopathy 12	Abnormal circulating creatine kinase concentration, Akinesia	OMIM:612540
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration	ORPHA:340
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures	ORPHA:289157
Neurodegeneration With Brain Iron Accumulation 5	Tremor, Akinesia, Dystonia	OMIM:300894
Albers-Schönberg Osteopetrosis	Optic atrophy, Hypocalcemia	ORPHA:53
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Perry Syndrome	Tremor, Short stepped shuffling gait, Akinesia, Dystonia	OMIM:168605
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Akinesia, Tremor, Gait disturbance, Dystonia	OMIM:606693
Hypotonia-Cystinuria Syndrome	Hypocalcemia, Cystinuria	OMIM:606407
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha...	OMIM:619743
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
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
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:307800
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Manganese Poisoning	Postural tremor, Gait disturbance, Akinesia, Dystonia	ORPHA:306682
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Difficulty walking, Hypophosphatemia	OMIM:277440
Fanconi Renotubular Syndrome 2	Generalized aminoaciduria, Hypophosphatemia	OMIM:613388
Addison Disease	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:85138
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Aminoacid...	ORPHA:411634
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Lethal Congenital Contracture Syndrome 2	Degenerative vitreoretinopathy, Akinesia	OMIM:607598
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
Fanconi-Bickel Syndrome	Hypouricemia, Generalized aminoaciduria, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increa...	OMIM:227810
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia, Dystonia	ORPHA:79233
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response, Optic atrophy, Optic disc pallor	OMIM:609541
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Inability to walk, Optic atrophy, Hypokalemia, Aminoaciduria, Hypocalcemia	OMIM:617913
Papillorenal Syndrome	Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Elevat...	OMIM:120330
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Ataxia, Hypocalcemia, Difficulty walking	OMIM:618476
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Hyperalaninemia, Akinesia	OMIM:619147
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Optic atrophy, Difficulty walking	ORPHA:320406
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration, Attenuation of retinal blood vessels	OMIM:614376
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Akinesia, Limb dystonia	OMIM:616840
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Pigmentary retinopathy, Hypokalemia, Aminoaciduria, Hypophospha...	ORPHA:411629
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia	OMIM:618885
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Congenital Myopathy 9A	Akinesia	OMIM:618822
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Postencephalitic Parkinsonism	Resting tremor, Oculogyric crisis, Tremor by anatomical site, Akinesia	ORPHA:97349
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Tip-toe gait, Hypocalcemia	ORPHA:746
Generalized Pustular Psoriasis	Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Timothy Syndrome	Hypocalcemia	OMIM:601005
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Generalized aminoaciduria, Hypophosphatemia	ORPHA:2088
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
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Hypocalcemia	OMIM:259700
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Thrombotic Thrombocytopenic Purpura, Hereditary	Tremor, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
X-Linked Agammaglobulinemia	Hypocalcemia	ORPHA:47
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Hypocalcemia	OMIM:607143
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Stiff Person Spectrum Disorder	Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Arthrogryposis Multiplex Congenita 6	Akinesia	OMIM:619334
Senior-Loken Syndrome 1	Retinal dystrophy, Elevated circulating creatinine concentration	OMIM:266900
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Neurodegeneration With Brain Iron Accumulation 1	Ataxia, Akinesia, Tremor, Optic atrophy, Choreoathetosis, Blepharospasm, Pigmentary retinopathy, ...	OMIM:234200
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Abnormal retinal vascular morphology, Elevated circulating creatinine c...	ORPHA:247691
Vipoma	Hypokalemia, Hypercalcemia	ORPHA:97282
Cystinosis, Nephropathic	Hyponatremia, Retinal pigment epithelial mottling, Generalized aminoaciduria, Reduced blood urea ...	OMIM:219800
Ppoma	Hypercalcemia	ORPHA:97278
Dent Disease 1	Aminoaciduria, Hypophosphatemia	OMIM:300009
Tay-Sachs Disease	Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Inability to walk, Opt...	ORPHA:845
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Hypomagnesemia, Mildly el...	ORPHA:79102
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Generalized aminoaciduria, Hypophosphatemia, Hypokalemia, Decreased...	ORPHA:3337
Somatostatinoma	Hypercalcemia	ORPHA:97283
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co...	OMIM:608836
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Gracile Bone Dysplasia	Hypocalcemia	OMIM:602361
Grfoma	Hypercalcemia	ORPHA:97261
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat...	OMIM:253800
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Optic atrophy, Ataxia	OMIM:616881
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Glucagonoma	Hypercalcemia	ORPHA:97280
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Williams Syndrome	Ataxia, Hypercalcemia, Elevated circulating creatine kinase concentration, Tremor, Retinal arteri...	ORPHA:904
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Pearson Syndrome	Ataxia, Hypophosphatemia, Pigmentary retinopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hype...	ORPHA:699
Autosomal Recessive Malignant Osteopetrosis	Tremor, Optic nerve compression, Hypocalcemia, Hypophosphatemia	ORPHA:667
Celiac Disease, Susceptibility To, 1	Ataxia, Hypocalcemia	OMIM:212750
Hereditary Late-Onset Parkinson Disease	Resting tremor, Shuffling gait, Akinesia, Dystonia	ORPHA:411602
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Optic atrophy, Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Gm2 Gangliosidosis, Ab Variant	Cherry red spot of the macula, Exaggerated startle response, Dystonia	ORPHA:309246
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Fetal Akinesia Deformation Sequence	Akinesia	ORPHA:994
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Multiple Pterygium Syndrome, Lethal Type	Akinesia	OMIM:253290
Supranuclear Palsy, Progressive, 2	Axial dystonia, Postural tremor, Akinesia, Falls, Gait imbalance, Retrocollis	OMIM:609454
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia	OMIM:618056
Supranuclear Palsy, Progressive, 1	Axial dystonia, Akinesia, Tremor, Falls, Gait imbalance, Retrocollis, Limb dystonia	OMIM:601104
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb...	ORPHA:37042
Fructose Intolerance, Hereditary	Transient aminoaciduria, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Arthrogryposis Multiplex Congenita 5	Optic disc pallor, Dystonia, Akinesia, Hand tremor	OMIM:618947
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Rod-cone dystrophy, Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Multiple Endocrine Neoplasia Type 1	Hypercalcemia	ORPHA:652
Ethylene Glycol Poisoning	Hyperkalemia, Ataxia, Hypocalcemia	ORPHA:31826
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response	OMIM:620114
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia	OMIM:225790
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Gaucher Disease, Perinatal Lethal	Akinesia, Opisthotonus	OMIM:608013
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Inability to walk, Exaggerated startle response, Optic nerve hypoplasia	OMIM:617864
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Dent Disease	Aminoaciduria, Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Velocardiofacial Syndrome	Retinal vascular tortuosity, Hypocalcemia	OMIM:192430
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Mccune-Albright Syndrome	Hypophosphatemia	ORPHA:562
Osteopetrosis With Renal Tubular Acidosis	Retinal atrophy, Abnormal retinal morphology, Elevated circulating creatine kinase concentration,...	ORPHA:2785
Tay-Sachs Disease	Cherry red spot of the macula, Exaggerated startle response	OMIM:272800
Raine Syndrome	Hypophosphatemia	OMIM:259775
Oligomeganephronia	Optic disc coloboma, Elevated circulating creatinine concentration	ORPHA:2260
Williams-Beuren Syndrome	Retinal arteriolar tortuosity, Hypercalcemia, Gait imbalance	OMIM:194050
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Chorioretinal dysplasia, Hypokalemia, Aminoaciduria, Hypophosphatemi...	ORPHA:534
Dpagt1-Cdg	Ataxia, Akinesia, Tremor, Inability to walk, Optic atrophy, Diffuse optic disc pallor, Rod-cone d...	ORPHA:86309
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Broad-based gait, Ataxia, Exaggerated startle response, Dystonia	ORPHA:438216
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Sarcoidosis	Hypercalcemia	ORPHA:797
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Exaggerated startle response	ORPHA:309155
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Hypocalcemia	ORPHA:175
Sandhoff Disease	Cherry red spot of the macula, Exaggerated startle response, Ataxia	OMIM:268800
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Elevated circulat...	ORPHA:91500
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:49041
Isotretinoin-Like Syndrome	Hypocalcemia	ORPHA:2306
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Optic nerve hypoplasia, Hypoasparaginemia	OMIM:615574
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Sotos Syndrome	Tremor, Hypercalcemia	ORPHA:821
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Cranioectodermal Dysplasia 1	Retinal dystrophy, Hypocalcemia	OMIM:218330
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Optic atrophy	OMIM:617301
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Gitelman Syndrome	Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin...	ORPHA:99826
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Optic atrophy	OMIM:617281
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Hennekam Syndrome	Hypocalcemia	ORPHA:2136
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Optic nerve hypoplasia, Broad-based gait, Hypocalcemia, Dystonia	OMIM:620330
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Optic atrophy, Dystonia	ORPHA:521426
22Q11.2 Deletion Syndrome	Retinal arteriolar tortuosity, Optic atrophy, Hypocalcemia	ORPHA:567
Gm1 Gangliosidosis Type 1	Cherry red spot of the macula, Exaggerated startle response, Dystonia	ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Optic atrophy	OMIM:617527
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
African Trypanosomiasis	Papilledema, Akinesia, Tremor, Choreoathetosis, Gait disturbance, Optic neuritis, Difficulty walking	ORPHA:3385
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Broad-based gait, Tip-toe gait, Falls, Hypocalcemia, Hypomagnesemia	OMIM:619503
Yellow Fever	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration...	ORPHA:99829
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Igg4-Related Kidney Disease	Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ...	ORPHA:449395
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Broad-based gait, Exaggerated startle response, Decreased serum iron, Inabilit...	ORPHA:438213
Charge Syndrome	Retinal coloboma, Hypocalcemia	OMIM:214800
Digeorge Syndrome	Hypocalcemia	OMIM:188400
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration	OMIM:243800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
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

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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