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Gene: Fam120a MGI:2446163

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Gene Summary

Name:
family with sequence similarity 120, member A
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
increased exploration in new environment Fam120aem1(IMPC)J HOM Early adult 2.81×10-06
increased lean body mass Fam120aem1(IMPC)J HOM Early adult 8.87×10-06
decreased total body fat amount Fam120aem1(IMPC)J HOM Early adult 9.78×10-06
abnormal retina morphology Fam120aem1(IMPC)J HOM Early adult 1.62×10-05
hyperactivity Fam120aem1(IMPC)J HOM   Early adult 3.98×10-06
increased bone mineral content Fam120aem1(IMPC)J HOM Early adult 4.10×10-06
increased circulating alkaline phosphatase level Fam120aem1(IMPC)J HOM Early adult 1.08×10-05
increased bone mineral density Fam120aem1(IMPC)J HOM Early adult 1.95×10-05
increased heart weight Fam120aem1(IMPC)J HOM Early adult 7.92×10-10
abnormal auditory brainstem response Fam120aem1(IMPC)J HOM   Early adult 8.24×10-06

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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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Eye Morphology

Images Ophthalmoscopy

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

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Human diseases caused by Fam120a 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 Fam120a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Flynn-Aird Syndrome
Progressive sensorineural hearing impairment, Joint stiffness, Increased bone density with cystic... OMIM:136300
Buschke-Ollendorff Syndrome
Connective tissue nevi, Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Keloids, Limitation of joint mobility, Abnormal pelvis bone o... ORPHA:166119
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Hearing impairment, Craniosynostosis, Facial palsy, Increased bone mineral density ORPHA:178377
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Van Buchem Disease
Hearing impairment, Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral ... OMIM:239100
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Sclerosteosis
Optic atrophy, Craniofacial hyperostosis, Abnormal cortical bone morphology, Sensorineural hearin... ORPHA:3152
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity, Decreased body weight OMIM:616311
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Failure to thrive, Increased bone mineral density OMIM:615198
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Sensorineural hearing impairment, Genera... ORPHA:3416
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Sensorineural hearing impairment, Hypophosphatemia, Craniosyno... OMIM:241520
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Sensorineural hearing impairment, G... ORPHA:2790
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Optic atrophy, Craniofacial osteosclerosis, Hearing impairment, Cortic... OMIM:122860
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Melorheostosis
Atypical scarring of skin, Failure to thrive, Joint stiffness, Ectopic ossification in muscle tis... ORPHA:2485
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Increased bone mineral density OMIM:618406
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Intermediate Osteopetrosis
Cortical sclerosis, Cranial nerve compression, Osteomyelitis, Hepatosplenomegaly, Increased susce... ORPHA:210110
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone ORPHA:564003
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Splenomegaly, Optic disc pallor, Osteopetrosis, Hepatomegaly, Increased bone miner... OMIM:611490
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Papillede... OMIM:620366
Mueller-Weiss Syndrome
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... ORPHA:566943
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Failure to thrive, Hearing impairment, Increased bone mineral dens... OMIM:239000
Morm Syndrome
Aggressive behavior, Retinal atrophy, Hyperactivity, Truncal obesity, Retinal dystrophy ORPHA:75858
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Ravine Syndrome
Decreased body weight, Abnormal auditory evoked potentials, Failure to thrive, Anorexia ORPHA:99852
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Facial paralysis, Failure to thrive, Hearing impairment, Pathologic fracture, Oste... OMIM:259700
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Sensorineural hear... OMIM:617519
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment, Thickened cortex of long bones, Generalized osteosclerosis, Osteop... OMIM:607634
Fraxe Intellectual Disability
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive... ORPHA:100973
Landau-Kleffner Syndrome
EEG with frontal focal spikes, EEG with generalized epileptiform discharges, Continuous spike and... ORPHA:98818
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Continuous spike and waves during slow sleep, Hyperacti... OMIM:301008
Dysosteosclerosis
Craniofacial hyperostosis, Optic atrophy, Coarse metaphyseal trabecularization, Hearing impairmen... ORPHA:1782
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Axial Osteomalacia
Increased bone mineral density, Elevated circulating creatine kinase concentration, Osteomalacia OMIM:109130
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Mandibular osteomyelitis, Facial paralysis, Fractures of the long bones, Gene... OMIM:166600
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Failure to thrive, Splenomegaly, Osteopetrosis, Hepatomegaly, Facial palsy OMIM:615085
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Glycine Encephalopathy 1
Hyperglycinemia, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Hyperprolinemia, Type I
Hyperprolinemia, Aggressive behavior, EEG abnormality, Hyperactivity, Motor stereotypy OMIM:239500
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hypsarrhythmia, Hyperactivity, Impulsivity OMIM:617113
Mohr-Tranebjaerg Syndrome
Optic atrophy, Mental deterioration, Prelingual sensorineural hearing impairment, Abnormality of ... ORPHA:52368
8p23.1 deletion syndrome
Abnormal heart morphology, Atrioventricular canal defect, Congenital diaphragmatic hernia, Atrial... DECIPHER:39
Pseudohypoparathyroidism Type 1B
Depression, Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, H... ORPHA:94089
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Elbow flexion contracture, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Lennox-Gastaut Syndrome
Mental deterioration, Irritability, Aggressive behavior, EEG abnormality, Hyperactivity, EEG with... ORPHA:2382
Mucopolysaccharidosis, Type Iiib
Progressive neurologic deterioration, Hearing impairment, Joint stiffness, Splenomegaly, Cardiome... OMIM:252920
Albers-Schönberg Osteopetrosis
Optic atrophy, Mandibular osteomyelitis, Hearing impairment, Osteomyelitis, Hypocalcemia, General... ORPHA:53
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Craniosynostosis, Obesity, Hypoalbuminemia ORPHA:88643
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Sensorineural hearing impairment, Thicke... OMIM:144750
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Splenomegaly, Arthritis ORPHA:37748
Autoimmune Hypoparathyroidism
Depression, Hyperphosphatemia, Hypocalcemic tetany, Confusion, Hypocalcemia, Irritability, Increa... ORPHA:36913
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Cardiomyopathy, Sensorineural hearing impairment, Abnormal retinal nerve fiber lay... ORPHA:1215
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Hearing impairment, Umbilical hernia, Increased bone mineral density, ... OMIM:614856
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Mandibular osteomyelitis, Facial paralysis, Cranial hyperostosis, Cranial nerve co... OMIM:259710
Mucopolysaccharidosis, Type Iiic
Hearing impairment, Joint stiffness, Splenomegaly, Hernia, Hyperactivity, Motor deterioration, Ro... OMIM:252930
Diastrophic Dysplasia
Hearing impairment, Camptodactyly of finger, Low-set, posteriorly rotated ears, Large earlobe, Jo... ORPHA:628
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Hearing impairment, Increased bone mine... ORPHA:90650
Phenylketonuria
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... OMIM:261600
Camurati-Engelmann Disease
Hearing impairment, Cranial nerve compression, Slender build, Sclerosis of skull base, Optic nerv... OMIM:131300
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Hypopigmentation of the fundus, Large fo... OMIM:600501
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Hypopigmentation of the fundus, Delayed patellar ossification, Retinal detachment, Abnormal bone ... ORPHA:163649
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Conductive hearing impairment, Abnormal cranial nerve morphology, Sens... ORPHA:1522
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Neuromuscular d... ORPHA:206443
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Attenuation of retinal blood vessels, Sensorineural hearing ... OMIM:619260
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, EEG with generalized epileptiform discharges, Memory impairment, Inappro... OMIM:619827
Majeed Syndrome
Failure to thrive, Osteomyelitis, Splenomegaly, Increased susceptibility to fractures, Synovitis,... ORPHA:77297
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Undetectable visual evoked potentials, Cranial hyperostosis, Hepatosplenomegaly, H... OMIM:259720
Trichothiodystrophy 6, Nonphotosensitive
Bilateral sensorineural hearing impairment, Coronal craniosynostosis, Small for gestational age, ... OMIM:616943
Late Infantile Neuronal Ceroid Lipofuscinosis
Mental deterioration, Dementia, Abnormal amplitude of flash visual evoked potentials, EEG with sp... ORPHA:168491
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Irr... OMIM:616881
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Mental deterioration, Craniofacial osteosclerosis, Increased skull ossification, I... OMIM:618476
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Hearing impairment, Osteolysis OMIM:167250
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Congenital sensorineural hearing impairment, Decreased body weight, Osteopetrosis, Increased bone... OMIM:617306
Rasmussen Subacute Encephalitis
Continuous spike and waves during slow sleep, Memory impairment, Increased theta frequency activi... ORPHA:1929
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Focal EEG discharges with secondary generalization, Obesity, Irri... ORPHA:3077
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla... OMIM:601455
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Mental deterioration, EEG with generalized epileptiform discharges, Obe... ORPHA:163681
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Papilledema, Transient hypophosp... OMIM:127000
Cerebrotendinous Xanthomatosis
Abnormal motor evoked potentials, Abnormal retinal vascular morphology, Cognitive impairment, Opt... ORPHA:909
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Head-banging, Hearing impairment, Abnormal heart morphology, ... OMIM:182290
Gaucher Disease
Aortic valve calcification, Hearing impairment, Cherry red spot of the macula, Hepatomegaly, Elev... ORPHA:355
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Inguinal hernia, Aggressive behavior, Attention deficit hyperactivity d... OMIM:620141
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limitation of joint mobility, Failure to thrive, Osteoarthritis of the distal... ORPHA:93284
Optic Atrophy 11
Optic atrophy, Hearing impairment, Cherry red spot of the macula, EEG with focal sharp waves, Ste... OMIM:617302
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,... OMIM:193700
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Obesity, Short attention span, Polyphagia, EEG abnormality, Hyperactivity ORPHA:411515
Werner Syndrome
Chondrocalcinosis, Slender build, Joint stiffness, Abnormality of retinal pigmentation, Lipodystr... ORPHA:902
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Low-set ears, Coarse metaphyseal trabecularization, Conductive hearing imp... ORPHA:2780
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Poems Syndrome
Visceromegaly, Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base, Splenomeg... ORPHA:2905
Mucopolysaccharidosis Type 2
Mental deterioration, Limitation of joint mobility, Abnormal mitral valve morphology, Sensorineur... ORPHA:580
Insulin-Like Growth Factor I Deficiency
Osteopenia, Short attention span, Sensorineural hearing impairment, Decreased body weight, Hypera... OMIM:608747
Mucopolysaccharidosis, Type Iiia
Hearing impairment, Umbilical hernia, Joint stiffness, Inguinal hernia, Splenomegaly, Hyperactivi... OMIM:252900
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Prelingual sensorineural hearing impairment, Failure to thrive, Cong... ORPHA:73272
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Infantile Neuroaxonal Dystrophy
Optic atrophy, Mental deterioration, Short attention span, Abnormality of peripheral nerve conduc... ORPHA:35069
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Mental deterioration, ... ORPHA:206436
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Hyperphosphatemia, Depression, Hypocalcemic tetany, Obesity, Confusion, Hyp... ORPHA:79444
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:301013
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... ORPHA:85188
Citrullinemia Type Ii
Hypoalbuminemia, Mania, Decreased body mass index, Memory impairment, Decreased HDL cholesterol c... ORPHA:247585
Pseudohypoparathyroidism Type 1A
Ectopic ossification, Hyperphosphatemia, Depression, Hypocalcemic tetany, Obesity, Confusion, Hyp... ORPHA:79443
Pycnodysostosis
Coronal craniosynostosis, Hepatosplenomegaly, Increased susceptibility to fractures, Mild conduct... ORPHA:763
Hyperoxaluria, Primary, Type I
Optic atrophy, Choroidal neovascularization, Retinal crystals, Pathologic fracture, Hyperoxaluria... OMIM:259900
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Hyperlysinemia, Type I
Hypoornithinemia, Short attention span, Hyperlysinemia, Hyperactivity, Cognitive impairment, Opti... OMIM:238700
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Osteomalacia, Rick... ORPHA:289176
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent otitis media, Recurrent ... ORPHA:449291
Dysosteosclerosis
Osteopenia, Optic atrophy, Facial paralysis, Hearing impairment, Sclerosis of hand bone, Sclerosi... OMIM:224300
Cockayne Syndrome A
Optic atrophy, Atypical scarring of skin, Abnormal auditory evoked potentials, Limitation of join... OMIM:216400
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Increased bone mineral density, Enamel hypomineralization ORPHA:3352
Gaucher Disease Type 3
Aortic valve calcification, Dementia, Abnormal heart valve morphology, Splenomegaly, Increased su... ORPHA:77261
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Secundum atrial septal defect, Failure to thrive, Short attention span, Aggressive be... OMIM:620242
Beemer-Ertbruggen Syndrome
Low-set, posteriorly rotated ears, Increased bone mineral density ORPHA:1237
Trichothiodystrophy
Osteopenia, Macular degeneration, Cardiomyopathy, Umbilical hernia, Absence of subcutaneous fat, ... ORPHA:33364
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, EEG with burst suppression, Hypsarrhythmia, Atrial septal defect, Hyperactivit... OMIM:619239
Otopalatodigital Syndrome Type 2
Low-set ears, Synostosis of carpal bones, Failure to thrive, Hearing impairment, Camptodactyly of... ORPHA:90652
Desmosterolosis
Low-set ears, Failure to thrive, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, ... ORPHA:35107
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Umbilical hernia, Low-set, posteriorly rotated ears, Joint stiffnes... ORPHA:800
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Cockayne Syndrome Type 1
Optic atrophy, Pigmentary retinopathy, Foot joint contracture, Failure to thrive, Hearing impairm... ORPHA:90321
Desmosterolosis
Low-set ears, Joint contracture of the hand, Total anomalous pulmonary venous return, Cupped ear,... OMIM:602398
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Hepatosplenomegaly, Osteopetrosis, Splenomegaly OMIM:612840
Cockayne Syndrome B
Optic atrophy, Atypical scarring of skin, Abnormal auditory evoked potentials, Limitation of join... OMIM:133540
Primary Hyperoxaluria
Optic atrophy, Choroidal neovascularization, Failure to thrive, Cardiomyopathy, Hyperoxaluria, Re... ORPHA:416
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Restless legs, Sensorineural hearing impairment, Absent brai... ORPHA:101085
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Hepatosplenomegaly, Optic nerve compression, Osteopetrosis, Diaphyseal scle... OMIM:259730
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Hearing impairment, Abnormal mitral valve morphology, Sensorineural he... ORPHA:581
Erdheim-Chester Disease
Polydipsia, Abnormal pericardium morphology, Osteomyelitis, Abnormal aortic valve morphology, Wei... ORPHA:35687
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
X-Linked Hypophosphatemia
Cellulitis, Limitation of joint mobility, Rickets, Sensorineural hearing impairment, Generalized ... ORPHA:89936
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Optic atrophy, Optic nerve compression, Splenomegaly, Femur ... OMIM:612301
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529799
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Cardiomegaly, Left ventricul... ORPHA:79330
Raine Syndrome
Low-set ears, Protruding ear, Posteriorly rotated ears, Hypophosphatemia, Enamel hypoplasia, Subp... OMIM:259775
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Osteopetrosis, Splenomegaly OMIM:618541
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Increased bone mineral density, Massively thickened long bone ... ORPHA:1798
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal dental enamel m... ORPHA:2658
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Chondrocalcinosis, Limitation of joint mobilit... ORPHA:79474
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, EEG abnormality... ORPHA:206448
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, EEG abnormality, Hyperactivity, Pr... OMIM:610042
Mend Syndrome
Aortic valve stenosis, Low-set ears, Abnormal auditory evoked potentials, Failure to thrive, Abno... ORPHA:401973
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Low-set ears, Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Post... OMIM:241410
Autosomal Recessive Malignant Osteopetrosis
Hearing impairment, Optic nerve compression, Abnormal pulmonary valve morphology, Splenomegaly, O... ORPHA:667
Williams Syndrome
Synostosis of joints, Overfriendliness, Ventricular septal defect, Mitral valve prolapse, Bicuspi... ORPHA:904
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... ORPHA:3240
Sclerosteosis 1
Optic atrophy, Hearing impairment, Facial palsy secondary to cranial hyperostosis, Sclerotic scap... OMIM:269500
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, Abnormal heart morphology, EEG with burst supp... ORPHA:171929
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Abnormal dental enamel morphology, Low-set, posteriorly... ORPHA:2323
12Q14 Microdeletion Syndrome
Osteopoikilosis, Failure to thrive ORPHA:94063
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Conductive hearing impairment, Failure to thrive, Cranial nerve compression, Hypoc... ORPHA:2785
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Osteomyelitis, Corneal scarring, Emotional la... OMIM:256800
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Hepatosplenomegaly, Short-segment agangl... OMIM:609136
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Coarse metaphyseal trabecularization, Ventricular septal defect, Thickened cortex of long bones, ... OMIM:620558
Choreoacanthocytosis
Mental deterioration, Emotional lability, Hair-pulling, Weight loss, Hepatomegaly, Dysphagia, Soc... ORPHA:2388
Legius Syndrome
Hearing impairment, Vestibular schwannoma, Short attention span, Mitral valve prolapse, Attention... ORPHA:137605
Cleidocranial Dysplasia 1
Hearing impairment, Delayed pubic bone ossification, Increased susceptibility to fractures, Ename... OMIM:119600
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density, Low-set ears ORPHA:50945
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Emotional lability, Ventricular septal defect, Sensorineural hearing impai... ORPHA:353281
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Optic atrophy, Mental deterioration, Depression, Pigmentary retinopathy, Obsessive-c... OMIM:234200
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Depression, Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentr... OMIM:612716
Schinzel-Giedion Midface Retraction Syndrome
Low-set ears, Increased density of long bones, Failure to thrive, Sclerosis of skull base, Thicke... OMIM:269150
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157

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 Fam120a

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 Fam120a.

No publications found that use IMPC mice or data for Fam120a.

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MGI Allele Allele Type Produced
Fam120aem1(IMPC)J Exon Deletion Mice

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