Gene: Ccdc92 MGI:106485

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Gene Summary

Name:
coiled-coil domain containing 92
Synonyms:
D5Bwg0834e

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased grip strength Ccdc92tm1b(KOMP)Mbp HOM Early adult 3.00×10-05
decreased circulating cholesterol level Ccdc92tm1b(KOMP)Mbp HOM Early adult 8.44×10-05
decreased circulating phosphate level Ccdc92tm1b(KOMP)Mbp HOM Early adult 3.48×10-05
decreased circulating serum albumin level Ccdc92tm1b(KOMP)Mbp HOM Early adult 7.49×10-05
decreased brain weight Ccdc92tm1b(KOMP)Mbp HOM   Early adult 4.99×10-05
abnormal heart morphology Ccdc92tm1a(KOMP)Mbp HOM Early adult 0.00
preweaning lethality, incomplete penetrance Ccdc92tm1b(KOMP)Mbp HOM   Early adult 0.00
enlarged heart Ccdc92tm1a(KOMP)Mbp HOM Early adult 0.00
abnormal auditory brainstem response Ccdc92tm1b(KOMP)Mbp HOM   Early adult 1.51×10-05
increased bone mineral density Ccdc92tm1a(KOMP)Mbp HOM Early adult 8.87×10-05
increased vertical activity Ccdc92tm1a(KOMP)Mbp HOM Early adult 5.90×10-06

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 25% (1 of 4)
Cerebellum  Section images heterozygote 50% (2 of 4)
Colon  Section images heterozygote 50% (2 of 4)
Duodenum  Section images heterozygote 25% (1 of 4)
Epididymis  Section images heterozygote 50% (2 of 4)
Esophagus  Section images heterozygote 25% (1 of 4)
Eye  Section images heterozygote 50% (2 of 4)
Ileum  Section images heterozygote 75% (3 of 4)
Kidney  Section images heterozygote 50% (2 of 4)
Lung  Section images heterozygote 25% (1 of 4)
Midbrain  Section images heterozygote 50% (2 of 4)
Olfactory lobe  Section images heterozygote 50% (2 of 4)
Pancreas  Section images heterozygote 50% (2 of 4)
Penis  Section images heterozygote 25% (1 of 4)
Pituitary gland  Section images heterozygote 50% (2 of 4)
Prostate gland  Section images heterozygote 50% (2 of 4)
Skin  Section images heterozygote 25% (1 of 4)
Spinal cord  Section images heterozygote 50% (2 of 4)
Stomach  Section images heterozygote 50% (2 of 4)
Testis  Section images heterozygote 50% (2 of 4)
Thymus  Section images heterozygote 25% (1 of 4)
Tongue  Section images heterozygote 50% (2 of 4)
Trachea  Section images heterozygote 25% (1 of 4)
Trigeminal V nerve  Section images heterozygote 50% (2 of 4)
Urinary bladder  Section images heterozygote 50% (2 of 4)
Uterus  Section images heterozygote 25% (1 of 4)
Vas deferens  Section images heterozygote 50% (2 of 4)
Vesicular gland  Section images heterozygote 25% (1 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Harderian gland N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

86 Images

X-ray

XRay Images Whole Body Dorso Ventral

20 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

Human diseases caused by Ccdc92 mutations

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

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

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

The table below shows human diseases predicted to be associated to Ccdc92 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets, Sensorineural hearing impairment OMIM:241520
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Flynn-Aird Syndrome
Osteoporosis, Increased bone density with cystic changes, Ataxia, Increased bone mineral density,... OMIM:136300
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Osteochondrosis Of The Metatarsal Bone
Difficulty walking, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness, Arthritis ORPHA:564003
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Mueller-Weiss Syndrome
Limitation of movement at ankles, Difficulty walking, Sclerosis of foot bone, Joint stiffness, Kn... ORPHA:566943
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Dysplastic Cortical Hyperostosis
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Melorheostosis
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Nephrotic Syndrome, Type 8
Sensorineural hearing impairment, Hypoalbuminemia OMIM:615244
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural he... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural he... ORPHA:529799
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... OMIM:166600
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hearing impairment, Hypertriglyceridemia, Increased LDL cholesterol concent... OMIM:144300
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... OMIM:616050
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Dense calvaria, Hepatomegaly, Splenomegaly, Joint stiffness, Cardi... OMIM:252920
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Decreased motor nerve conduction velocity, Hypocholester... OMIM:256840
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide level ORPHA:157215
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat... ORPHA:64753
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Schnitzler Syndrome
Hepatomegaly, Arthritis, Increased bone mineral density, Splenomegaly ORPHA:37748
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Sensorineural hearing impairment, Hypoalbuminemia OMIM:617575
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi... ORPHA:247585
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:616834
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia OMIM:608104
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Macrotia, Low-set, posteriorly rotated ea... OMIM:618156
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Peroxisome Biogenesis Disorder 3B
Sensorineural hearing impairment, Steatorrhea, Hypocholesterolemia OMIM:266510
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Cardiomegaly OMIM:300886
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Dysosteosclerosis
Ventricular septal defect, Craniofacial hyperostosis, Recurrent fractures, Increased bone mineral... ORPHA:1782
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Generalized osteosclerosis OMIM:215045
Eosinophilic Gastroenteritis
Steatorrhea, Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Increased bone mineral density OMIM:614856
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Hypokalemia OMIM:227810
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Osteopetrosis, Splenomegaly OMIM:615085
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Osteopetrosis, Increased bone mineral density, Hepatomegaly, Pathologic fractur... OMIM:259700
Buschke-Ollendorff Syndrome
Craniosynostosis, Flexion contracture, Recurrent fractures, Generalized osteosclerosis, Osteopoik... ORPHA:1306
Leishmaniasis
Hypoalbuminemia ORPHA:507
Hyperphosphatasia With Mental Retardation Syndrome 3
Hearing impairment, Hyperphosphatemia OMIM:614207
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Gaucher Disease Type 3
Osteolysis, Abnormal heart valve morphology, Mitral valve calcification, Pericardial effusion, Ga... ORPHA:77261
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Lethargy, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:31824
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hearing impairment, Hypercalcemia OMIM:156400
Potocki-Lupski Syndrome
Hearing impairment, EEG abnormality, Hypocholesterolemia OMIM:610883
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... ORPHA:88618
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Cystinosis
Hypophosphatemia, Hypokalemia ORPHA:213
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Sensorineural hearing impairm... ORPHA:540
Leigh Syndrome With Nephrotic Syndrome
EEG with focal spikes, Hypoalbuminemia ORPHA:255249
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:611490
Gaucher Disease Type 1
Osteolysis, Pericardial effusion, Increased bone mineral density, Hepatomegaly, Pathologic fractu... ORPHA:77259
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Abnormal vertebral segmentation and fus... ORPHA:90650
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Lethargy, Cardiomegaly OMIM:619064
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Osteopetrosis, Cranial hyperostosis, Hepatosplenomegaly, Mandibular osteomye... OMIM:259710
Carnitine Deficiency, Systemic Primary
Lethargy, Endocardial fibroelastosis, Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:212140
Infantile Sialic Acid Storage Disease
Hepatomegaly, Osteopenia, Cardiomegaly, Splenomegaly OMIM:269920
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Sensorineural hearing impairment, Azotemia OMIM:104200
Wolcott-Rallison Syndrome
Hyperammonemia, Hyperbilirubinemia, Hyponatremia, Hypoalbuminemia ORPHA:1667
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Hypercalcemia OMIM:239200
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Neuraminidase Deficiency
Epiphyseal stippling, Hepatomegaly, Cardiomegaly, Dysmetria, Splenomegaly, Cardiomyopathy OMIM:256550
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Osteoarthritis of the distal interphalangeal join... ORPHA:93284
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Osteopetrosis, Hepatomegaly, Reduced bone mineral density, Splenomegaly ORPHA:2785
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:289157
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Congenital Enterovirus Infection
Hyperammonemia, Hypoalbuminemia ORPHA:292
Congenital Disorder Of Glycosylation, Type Ia
Macrotia, Hypoalbuminemia, Hypocholesterolemia OMIM:212065
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:90362
Raine Syndrome
Hypophosphatemia, Abnormality of the pinna, Posteriorly rotated ears, Neonatal death, Protruding ... OMIM:259775
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Sensorineural... ORPHA:96180
Avian Influenza
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Elevated circulating C-react... ORPHA:454836
Diastrophic Dwarfism
Joint hyperflexibility, Joint stiffness, Camptodactyly of finger, Increased bone mineral density ORPHA:628
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Neonatal death, Hypoalbuminemia OMIM:619055
Abetalipoproteinemia
Hypotriglyceridemia, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia, Decreased LDL choleste... ORPHA:14
Bile Acid Synthesis Defect, Congenital, 1
Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia OMIM:607765
Pseudohypoparathyroidism Type 1B
Laryngeal dystonia, Increased bone density with cystic changes, Diaphyseal sclerosis, Increased b... ORPHA:94089
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Hypoalbuminemia OMIM:617303
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Inability to walk, Steppage gait, Abnormal atrioventricular valve morphology, Aortic valve stenos... ORPHA:324410
Albers-Schönberg Osteopetrosis
Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Osteoarthritis, Osteom... ORPHA:53
Al Amyloidosis
Postural hypotension with compensatory tachycardia, Autonomic erectile dysfunction, Abnormal auto... ORPHA:85443
Majeed Syndrome
Flexion contracture, Synovitis, Increased bone mineral density, Hepatomegaly, Increased susceptib... ORPHA:77297
Opsismodysplasia
Hypophosphatemia OMIM:258480
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Hyperuricemia ORPHA:469
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Truncal ataxia, Limb ataxia, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Hypocholesterolemia OMIM:618810
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Sensorineural hearing impairment, Hyperuricemia, Hydroxyprolinemia OMIM:239000
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Papilledema, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pericardial constriction, Thickened cortex of lo... OMIM:253250
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma, Bacterial endocarditis ORPHA:615
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Increased bone mineral density, Coarse metaphyseal trabecularization, Aortic valve... ORPHA:2780
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait ataxia, Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait, Cardiomegaly, ... OMIM:619259
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Hepatosplenomegaly, Osteopetrosis, Splenomegaly OMIM:612840
Dent Disease 1
Hypophosphatemia OMIM:300009
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed patellar ossification, Abnormal bone ossification, Increased bone mineral density ORPHA:163649
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Orthost... ORPHA:186
Mccune-Albright Syndrome
Hypophosphatemia, Hearing impairment, Increased circulating cortisol level, Primary hypercortisolism ORPHA:562
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Conductive hearing impairment, Sensorineural hearing impairment, Hypoalbuminemia OMIM:235510
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Lethargy, Cardiomegaly OMIM:255120
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Hemochromatosis, Type 1
Osteoporosis, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:235200
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hearing impairment, Hypercalcemia, Increased circulating cortisol level ORPHA:249
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Hypophosphatemic rickets, Bicarbonatu... ORPHA:3337
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Ataxia, Hepatomegaly, Distal arthrogryposis, Cardiomegaly ORPHA:42
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Cantu Syndrome
Osteoporosis, Pericardial effusion, Congenital hypertrophy of left ventricle, Cardiomegaly, Bicus... OMIM:239850
Gaucher Disease
Arthrogryposis multiplex congenita, Osteolysis, Abnormal heart valve morphology, Mitral valve cal... ORPHA:355
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... ORPHA:3240
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Hypoalbuminemia, Hypo... ORPHA:37042
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Absent ossification of calvaria, Absent ossific... OMIM:601376
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hypermethioninemia, Hypoalbuminemia, Increased serum iron, Microtia OMIM:222470
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased plasma carnitine, Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Abnormal... ORPHA:89842
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Familial Parathyroid Adenoma
Hypophosphatemia, Hypercalcemia ORPHA:99877
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Thin bony cortex, Increased bone mineral density ORPHA:85184
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Refsum Disease, Classic
Ataxia, Cardiomegaly, Cardiomyopathy OMIM:266500
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Inability to walk, Limited hip movement, Limited knee flexion/extension, Right ventricular hypert... ORPHA:268
Symptomatic Form Of Hemochromatosis Type 1
Osteoporosis, Lethargy, Stiff interphalangeal joints, Hepatomegaly, Joint stiffness, Cardiomegaly... ORPHA:465508
Primary Parathyroid Hyperplasia
Hypophosphatemia, Hypercalcemia ORPHA:99878
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Abnormal cochlea morpholog... ORPHA:52368
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Infantile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration ORPHA:411629
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Flexion contracture, Fractured radius, Multiple prenatal fractures, Ca... OMIM:616897
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Thyrotoxic Periodic Paralysis
Mildly elevated creatine kinase, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia... ORPHA:79102
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Cardiomegaly, Ventricular septal defect OMIM:618652
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Galloway-Mowat Syndrome 1
Optic atrophy, Hypoalbuminemia, Macrotia OMIM:251300
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Increased bone mineral density, Waddling gait, Sclero... OMIM:131300
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Torticollis, Cardiomegaly, Overriding aorta, Stiff neck OMIM:617022
Beck-Fahrner Syndrome
Joint hypermobility, Cardiomegaly, Attention deficit hyperactivity disorder, Ventricular septal d... OMIM:618798
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Hypoalbuminemia ORPHA:505248
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Abnormal heart valve morp... ORPHA:90652
Erdheim-Chester Disease
Osteolysis, Abnormal aortic valve morphology, Abnormal pericardium morphology, Ataxia, Increased ... ORPHA:35687
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concen... ORPHA:2298
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Steatorrhea, Hearing impairment, Hypokalemia, Hyperalaninemia, Hy... ORPHA:699
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Enthesitis, Incr... ORPHA:289176
Poems Syndrome
Sclerosis of hand bone, Pericardial effusion, Visceromegaly, Sclerosis of foot bone, Sclerosis of... ORPHA:2905
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Dysosteosclerosis
Sclerosis of hand bone, Clavicular sclerosis, Increased susceptibility to fractures, Sclerotic sc... OMIM:224300
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Low-set, posteriorly rotated ears, Hyponat... ORPHA:534
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hyperuricosuria OMIM:229600
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Hypocalcemia, Hyperphosphatemia ORPHA:2323
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia OMIM:613658
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Cardiomegaly, Cardiomyopathy OMIM:105210
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Lethargy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:201475
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Hsd10 Disease, Infantile Type
Dystonia, Loss of ability to walk, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia ORPHA:99880
Parathyroid Carcinoma
Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia ORPHA:143
Desmosterolosis
Increased bone mineral density, Anomalous pulmonary venous return, Osteopetrosis, Splenomegaly ORPHA:35107
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hearing impairment, Hyperphosphatemia ORPHA:457059
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Dent Disease
Elevated circulating creatine kinase concentration, Hyperuricosuria, Renal hypophosphatemia ORPHA:1652
Trichothiodystrophy
Craniosynostosis, Gait ataxia, Ventricular septal defect, Increased bone mineral density, Multipl... ORPHA:33364
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Hepatosplenomegaly, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Hypokalemia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
X-Linked Hypophosphatemia
Hypophosphatemia, Sensorineural hearing impairment ORPHA:89936
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Optic atrophy, Hyperphosphatemia ORPHA:428
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Ataxia OMIM:618476
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Hearing impairment, Optic nerve compression ORPHA:667
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Kaufman Oculocerebrofacial Syndrome
Abnormality of the pinna, Optic disc pallor, Hypocholesterolemia OMIM:244450
Schwartz-Jampel Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Gait disturbance, Flexion contracture of toe, B... ORPHA:800
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Greenberg Dysplasia
Epiphyseal stippling, Abnormal ossification involving the femoral head and neck, Supernumerary ve... OMIM:215140
Tangier Disease
Hypertriglyceridemia, Facial diplegia, Hypocholesterolemia ORPHA:31150
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Complete Atrioventricular Septal Defect
Lethargy, Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatome... ORPHA:1329
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Acrodysostosis 1 With Or Without Hormone Resistance
Hearing impairment, Optic atrophy, Hyperphosphatemia OMIM:101800
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Dextrocardia, ... OMIM:306955
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy, Enlarged kidney, Hepatomegaly, Cardiomegaly, Knee flexion contracture, Dilated cardiomy... OMIM:608836
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteoporosis, Joint hypermobility, Atrial septal defect, Craniosynostosis, Radioulnar synostosis,... OMIM:245600
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Werner Syndrome
Osteoporosis, Joint stiffness, Increased bone mineral density ORPHA:902
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Cardiomegaly, Osteoporosis, Hypertrophic cardiomyopathy ORPHA:1517
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Developmental And Epileptic Encephalopathy 95
Inability to walk, Arthrogryposis multiplex congenita, Joint laxity, Gait disturbance, Ataxia, He... OMIM:618143
Craniofaciofrontodigital Syndrome
Joint hypermobility, Cardiomegaly, Abnormal heart morphology OMIM:114620
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Calcinosis, Hyperphosphatemia, Hypocalcemic seizures ORPHA:79444
Lenz-Majewski Hyperostotic Dwarfism
Joint hyperflexibility, Elbow ankylosis, Osteopetrosis, Abnormal cortical bone morphology, Increa... ORPHA:2658
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Osteopetrosis, Splenomegaly OMIM:259720
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Gaucher Disease, Perinatal Lethal
Arthrogryposis multiplex congenita, Akinesia, Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatospl... OMIM:608013
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Macrotia, Hearing impairment, Absent brainstem auditory responses,... ORPHA:90321
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Atrial septal defect, Flexion contracture of finger, Ventricular septal ... OMIM:602782
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Calcinosis, Sensorineural hearing impairment, Hyperphosphatemi... ORPHA:79443
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Craniofacial hyperostosis, Gait disturbance, Flexion contractur... ORPHA:581
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Joint hypermobility, Osteopenia, Cardiomegaly, Abnormal bone ossification ORPHA:2463
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiol... ORPHA:99027
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Papilledema, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Ataxia OMIM:268800
Desmosterolosis
Arthrogryposis multiplex congenita, Total anomalous pulmonary venous return, Generalized osteoscl... OMIM:602398
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic nerve hypoplasia, De... ORPHA:101085
Williams Syndrome
Joint laxity, Abnormal endocardium morphology, Increased bone mineral density, Joint stiffness, C... ORPHA:904
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Abnormal autonomic nervous system physiology, Long-segment ... OMIM:609136
Fucosidosis
Hepatomegaly, Flexion contracture, Cardiomegaly, Splenomegaly OMIM:230000
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Infantile Krabbe Disease
Hearing impairment, Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerv... ORPHA:206436
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Hypoalbuminemia, Macrotia OMIM:614748
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Elevated 7-dehydrocholesterol, Hypocholesterolemia, Posteriorly rotated ea... OMIM:270400
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Dystonia, Cardiomegaly OMIM:618278
Mend Syndrome
Elevated 8(9)-cholestenol, Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol ORPHA:401973
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Camptodactyly of toe ORPHA:158687
Atypical Werner Syndrome
Osteoporosis, Sclerosis of hand bone, Increased bone mineral density, Osteolytic defects of the p... ORPHA:79474
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Pathologic fracture, Cardiomegaly, Splenomegaly, Osteopenia, Hypertrophic cardiomyo... OMIM:252500
Trisomy 10P
Low voltage EEG, Macrotia, EEG with burst suppression, Posteriorly rotated ears, Abnormal auditor... ORPHA:171929
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Primary Hyperoxaluria
Recurrent fractures, Generalized osteosclerosis, Cardiomyopathy ORPHA:416
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Cleidocranial Dysplasia
Delayed pubic bone ossification, Increased susceptibility to fractures, Increased bone mineral de... OMIM:119600
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:466650
Cerebrotendinous Xanthomatosis
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Optic neuropathy, Decrease... ORPHA:909
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Osteopetrosis, Abnormal trabecular bone morphology, Splenomegaly OMIM:612301
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Joint laxity, Ankylosis, Ventricular septal defect, Ataxia, Right ventricul... OMIM:300967
Glycogen Storage Disease Due To Acid Maltase Deficiency
Inability to walk, Osteoporosis, Difficulty walking, Flexion contracture, Hepatomegaly, Left vent... ORPHA:365
Bohring-Opitz Syndrome
Inability to walk, Bilateral wrist flexion contracture, Congenital contracture, Cardiomegaly, Abn... ORPHA:97297
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Cockayne Syndrome A
Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hearing impairment, ... OMIM:216400
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly, Cardiomyopathy ORPHA:228308
Cockayne Syndrome B
Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hearing impairment, ... OMIM:133540
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... ORPHA:3384
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... OMIM:269500
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Joint laxity, Cardiomegaly, Ventricular septal defect ORPHA:96191
Aicardi-Goutières Syndrome
Dystonia, Difficulty walking, Arthritis, Multiple joint contractures, Cardiomegaly, Hepatosplenom... ORPHA:51
Singleton-Merten Syndrome 1
Osteoporosis, Mitral valve calcification, Aortic valve stenosis, Waddling gait, Cardiomegaly, Aor... OMIM:182250
Histiocytoid Cardiomyopathy
Hepatomegaly, Lethargy, Cardiomegaly, Ventricular septal defect ORPHA:137675
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Atrial septal defect, Sclerosis of skull base, Thickened cortex ... OMIM:269150
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Flexion contracture of finger, Flexion contracture, Flexion contracture ... OMIM:256040
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Cardiomegaly, Cardiomyopathy OMIM:130650
Pmm2-Cdg
Abnormality of the pinna, Macrotia, Hypoalbuminemia, Reduced thyroxin-binding globulin ORPHA:79318
Yunis-Varon Syndrome
Atrial septal defect, Ventricular septal defect, Cardiomegaly, Decreased skull ossification, Abse... ORPHA:3472
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Pericardial effusion, Hypophosphatemic rickets, Abnormal calcification o... ORPHA:51608
Beckwith-Wiedemann Syndrome
Enlarged kidney, Visceromegaly, Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyop... ORPHA:116

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 Ccdc92

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 Ccdc92.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Ccdc92tm1b(KOMP)Mbp PMC5638796

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MGI Allele Allele Type Produced
Ccdc92tm1b(KOMP)Mbp Reporter-tagged deletion allele (post-Cre) Mice, Tissue
Ccdc92tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells, Tissue

The IM