Gene Summary

Name:
ninein
Synonyms:
3110068G20Rik

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 prepulse inhibition Nintm1b(EUCOMM)Hmgu HOM Early adult 7.36×10-34
decreased startle reflex Nintm1b(EUCOMM)Hmgu HOM Early adult 4.91×10-09
decreased anxiety-related response Nintm1b(EUCOMM)Hmgu HOM Early adult 5.35×10-09
hyperactivity Nintm1b(EUCOMM)Hmgu HOM Early adult 1.75×10-13
abnormal auditory brainstem response Nintm1b(EUCOMM)Hmgu HOM   Early adult 1.48×10-06

Download data as:  TSV  XLS

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Select physiological systems to view:
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  Wholemount images heterozygote Ambiguous
Adrenal gland  Wholemount images homozygote Ambiguous
Aorta  Wholemount images heterozygote Ambiguous
Aorta  Wholemount images homozygote 100% (2 of 2)
Bone  Wholemount images heterozygote Ambiguous
Bone  Wholemount images homozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (4 of 4)
Brain  Wholemount images homozygote 100% (2 of 2)
Cecum  Wholemount images heterozygote 100% (4 of 4)
Cecum  Wholemount images homozygote 100% (2 of 2)
Chest bone  Wholemount images heterozygote 100% (4 of 4)
Chest bone  Wholemount images homozygote 100% (2 of 2)
Diaphragm  Wholemount images homozygote Ambiguous
Duodenum  Wholemount images heterozygote 100% (4 of 4)
Duodenum  Wholemount images homozygote 100% (2 of 2)
Epididymis  Wholemount images heterozygote Not available
Epididymis  Wholemount images homozygote Not available
Esophagus  Wholemount images heterozygote Ambiguous
Esophagus  Wholemount images homozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote Ambiguous
Gall bladder  Wholemount images homozygote 100% (2 of 2)
Harderian gland  Wholemount images heterozygote Ambiguous
Harderian gland  Wholemount images homozygote Ambiguous
Heart  Wholemount images heterozygote Ambiguous
Heart  Wholemount images homozygote 100% (2 of 2)
Hindlimb  Wholemount images heterozygote Ambiguous
Hindlimb  Wholemount images homozygote 100% (2 of 2)
Ileum  Wholemount images heterozygote 100% (4 of 4)
Ileum  Wholemount images homozygote 100% (2 of 2)
Jejunum  Wholemount images heterozygote 100% (4 of 4)
Jejunum  Wholemount images homozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (4 of 4)
Kidney  Wholemount images homozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (4 of 4)
Large intestine  Wholemount images homozygote 100% (2 of 2)
Liver  Wholemount images heterozygote 0.0% (0 of 4)
Liver  Wholemount images homozygote Ambiguous
Lung  Wholemount images heterozygote 100% (4 of 4)
Lung  Wholemount images homozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 0.0% (0 of 4)
Lymph node  Wholemount images homozygote Ambiguous
Main olfactory bulb  Wholemount images heterozygote 100% (4 of 4)
Main olfactory bulb  Wholemount images homozygote 100% (2 of 2)
Mammary gland  Wholemount images homozygote Not available
Mesenteric adipose tissue  Wholemount images heterozygote Ambiguous
Mesenteric adipose tissue  Wholemount images homozygote Ambiguous
Mesenteric lymph node  Wholemount images heterozygote Ambiguous
Mesenteric lymph node  Wholemount images homozygote Ambiguous
Ovary  Wholemount images heterozygote 50% (2 of 4)
Ovary  Wholemount images homozygote Not available
Oviduct  Wholemount images heterozygote 50% (2 of 4)
Oviduct  Wholemount images homozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (4 of 4)
Parathyroid gland  Wholemount images homozygote 50% (1 of 2)
Parotid gland  Wholemount images heterozygote Ambiguous
Parotid gland  Wholemount images homozygote Ambiguous
Penis  Wholemount images heterozygote 50% (2 of 4)
Penis  Wholemount images homozygote 50% (1 of 2)
Pituitary gland  Wholemount images heterozygote 100% (4 of 4)
Pituitary gland  Wholemount images homozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote Not available
Prostate gland  Wholemount images homozygote Not available
Quadriceps  Wholemount images homozygote Ambiguous
Sciatic nerve  Wholemount images heterozygote Ambiguous
Sciatic nerve  Wholemount images homozygote 100% (2 of 2)
Skin  Wholemount images heterozygote Ambiguous
Skin  Wholemount images homozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (4 of 4)
Spinal cord  Wholemount images homozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote Ambiguous
Spleen  Wholemount images homozygote Ambiguous
Stomach  Wholemount images heterozygote 100% (4 of 4)
Stomach  Wholemount images homozygote 100% (2 of 2)
Sublingual gland  Wholemount images heterozygote 0.0% (0 of 4)
Sublingual gland  Wholemount images homozygote Ambiguous
Submandibular gland  Wholemount images heterozygote 0.0% (0 of 4)
Submandibular gland  Wholemount images homozygote Ambiguous
Testis  Wholemount images heterozygote 50% (2 of 4)
Testis  Wholemount images homozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote Ambiguous
Thymus  Wholemount images homozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote Ambiguous
Thyroid gland  Wholemount images homozygote Ambiguous
Tongue  Wholemount images heterozygote Ambiguous
Tongue  Wholemount images homozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (4 of 4)
Trachea  Wholemount images homozygote 100% (2 of 2)
Trigeminal V nerve  Wholemount images heterozygote 100% (4 of 4)
Trigeminal V nerve  Wholemount images homozygote 100% (2 of 2)
Urinary bladder  Wholemount images heterozygote 75% (3 of 4)
Urinary bladder  Wholemount images homozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (2 of 4)
Uterus  Wholemount images homozygote 50% (1 of 2)
Vagina  Wholemount images homozygote 50% (1 of 2)
Vesicular gland  Wholemount images heterozygote Not available
Vesicular gland  Wholemount images homozygote Not available
White adipose tissue  Wholemount images homozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 100% (4 of 4)
Brainstem N/A homozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A homozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Ambiguous
Cartilage tissue N/A homozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (4 of 4)
Cerebellum N/A homozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (4 of 4)
Cerebral cortex N/A homozygote 100% (2 of 2)
Colon N/A heterozygote 100% (4 of 4)
Colon N/A homozygote 100% (2 of 2)
Cranium N/A heterozygote Ambiguous
Cranium N/A homozygote Ambiguous
Diaphragm N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Eye N/A homozygote 0.0% (0 of 2)
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Gonadal fat pad N/A homozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (4 of 4)
Hippocampus N/A homozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (4 of 4)
Hypothalamus N/A homozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote 75% (3 of 4)
Lower urinary tract N/A homozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Midbrain N/A heterozygote 100% (4 of 4)
Midbrain N/A homozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (4 of 4)
Olfactory lobe N/A homozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Oral epithelium N/A homozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 4)
Pancreas N/A homozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A homozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A homozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A homozygote Ambiguous
Small intestine N/A heterozygote 100% (4 of 4)
Small intestine N/A homozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A homozygote 0.0% (0 of 2)
Striatum N/A heterozygote 100% (4 of 4)
Striatum N/A homozygote 100% (2 of 2)
Thalamus N/A heterozygote 100% (4 of 4)
Thalamus N/A homozygote 100% (2 of 2)
Vagina N/A heterozygote 0.0% (0 of 4)
Vas deferens N/A heterozygote Not available
Vas deferens N/A homozygote Not available
Vascular system N/A heterozygote Ambiguous
Vascular system N/A homozygote 100% (2 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 4)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (9 of 9)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 9)
Eye N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 77.78% (7 of 9)
Forelimb N/A homozygote 100% (2 of 2)
Head N/A heterozygote 100% (9 of 9)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 0.0% (0 of 9)
Heart N/A homozygote Ambiguous
Hindlimb N/A heterozygote 77.78% (7 of 9)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 9)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 9)
Lung N/A homozygote Ambiguous
Tail N/A heterozygote 100% (9 of 9)
Tail N/A homozygote 100% (2 of 2)
Brain N/A heterozygote 100% (9 of 9)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 9)
Ear N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 9)
Footplate N/A homozygote Ambiguous
Forearm N/A heterozygote 77.78% (7 of 9)
Forearm N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 0.0% (0 of 9)
Forebrain N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 9)
Handplate N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (9 of 9)
Hindbrain N/A homozygote 100% (2 of 2)
Lower leg N/A heterozygote 22.22% (2 of 9)
Lower leg N/A homozygote 100% (2 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 9)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 9)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 9)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 9)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 9)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 9)
Tail somite N/A homozygote Ambiguous
Upper arm N/A heterozygote 77.78% (7 of 9)
Upper arm N/A homozygote 100% (2 of 2)
Upper leg N/A heterozygote 77.78% (7 of 9)
Upper leg N/A homozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.73% (4 of 545)
aorta 0.18% (1 of 541)
bone 0.0%
brain 0.92% (5 of 546)
brainstem 0.19% (1 of 540)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 533)
cecum 4.87% (17 of 349)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 542)
chest bone Unavailable
colon 15.5% (20 of 129)
cranium
diaphragm 0.0%
duodenum 3.82% (5 of 131)
epididymis 13.08% (17 of 130)
esophagus 1.3% (5 of 384)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.37% (2 of 547)
hindlimb 0.0%
hippocampus 0.37% (2 of 540)
hypothalamus 0.37% (2 of 534)
ileum 13.33% (16 of 120)
jejunum 9.23% (12 of 130)
kidney 4.63% (25 of 540)
large intestine 5.56% (30 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 546)
lung 0.18% (1 of 546)
lymph node 0.18% (1 of 547)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.34% (1 of 292)
midbrain 0.0%
olfactory lobe 0.36% (2 of 555)
oral epithelium 0.0%
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.93% (5 of 540)
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 560)
prostate gland 2.03% (11 of 541)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.19% (1 of 539)
small intestine 5.04% (27 of 536)
spinal cord 0.57% (3 of 529)
spleen 0.56% (3 of 539)
stomach 3.42% (19 of 555)
stomach pyloric region 0.0%
striatum 0.37% (2 of 547)
sublingual gland 0.0%
submandibular gland 1.5% (2 of 133)
testis 1.1% (6 of 545)
thalamus 0.0%
thymus 0.18% (1 of 546)
thyroid gland 2.93% (16 of 546)
tongue 2.38% (3 of 126)
trachea 0.54% (3 of 557)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.36% (2 of 554)
vagina 0.0%
vas deferens 4.18% (15 of 359)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)

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 Wholemount

377 Images

Embryo LacZ

LacZ images wholemount

223 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Human diseases caused by Nin mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Seckel Syndrome 7
Microtia OMIM:614851
Microcephalic Primordial Dwarfism, Dauber Type
Microtia ORPHA:319675

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Depression, Attention deficit hyperactivity disorder OMIM:613003
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis ORPHA:737
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Pruritus OMIM:146750
Porokeratosis Of Mibelli
Hyperkeratosis, Pruritus ORPHA:735
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Crusting erythem... ORPHA:79147
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617574
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis OMIM:101850
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Continuous spike and waves ... OMIM:301008
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis OMIM:270220
Dermatoleukodystrophy
Hyperkeratosis ORPHA:1659
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Cole Disease
Palmoplantar keratoderma, Hyperkeratosis OMIM:615522
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Recurrent skin infections ORPHA:79503
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Immunodeficiency 8
Hyperactivity OMIM:615401
Dystonia 11, Myoclonic
Torticollis, Agoraphobia, Depression, Anxiety, Tremor, Writer's cramp OMIM:159900
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Myoclonus-Dystonia Syndrome
Torticollis, Depression, Anxiety, Panic attack, Writer's cramp, Personality disorder, Dystonia ORPHA:36899
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Pemphigus Vulgaris
Acantholysis, Recurrent cutaneous abscess formation ORPHA:704
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Normal interictal EEG, Anxiety, Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Acantholysis, Edema ORPHA:455
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Hypsarrhythmia OMIM:619970
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Plantar hyperkeratosis, Pruritus OMIM:616487
Darier-White Disease
Acantholysis, Pruritus, Subungual hyperkeratotic fragments OMIM:124200
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:617571
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Orthokeratosis, Recurrent skin infections, Acantholysis, Erythroderma, Palmoplantar keratoderma, ... OMIM:615508
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Plantar hyperkeratosis, Hyperkeratosis, Palmar hyperkeratosis ORPHA:79399
Parkinsonism With Polyneuropathy
Resting tremor, Depression, Decreased motor nerve conduction velocity, Anxiety, Decreased amplitu... OMIM:619279
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Perifolliculitis, Acne inversa, Follicular hyperkeratosis, Recurrent cutane... OMIM:613736
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Hypsarrhythmia OMIM:617113
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Iga Pemphigus
Pustule, Acantholysis, Pruritus, Cutaneous abscess, Neutrophilic infiltration of the skin ORPHA:555905
Intellectual Developmental Disorder, Fra12A Type
Erythroderma, Hyperkeratosis OMIM:136630
Acquired Ichthyosis
Palmoplantar keratoderma, Hyperkeratosis, Pruritus, Recurrent skin infections ORPHA:454
Pemphigus Foliaceus
Pustule, Acantholysis, Crusting erythematous dermatitis, Pruritus, Erythroderma, Psoriasiform der... ORPHA:79481
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Tremor, Focal EEG discharg... ORPHA:3077
Pemphigus Erythematosus
Malar rash, Acantholysis ORPHA:79480
Familial Benign Chronic Pemphigus
Acantholysis, Hyperkeratosis ORPHA:2841
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Impulsivity, EEG with focal epileptiform discharges, Depression, EEG with generali... ORPHA:88616
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma, Palmoplantar keratoderma, Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:615024
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Hyperactivity, Impulsivity, Continuous spike and waves during slow... ORPHA:98818
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans ORPHA:409
Lennox-Gastaut Syndrome
EEG abnormality, Hyperactivity, Aggressive behavior, EEG with focal sharp slow waves, Personality... ORPHA:2382
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Pityriasis Rubra Pilaris
Pustule, Eczema, Subungual hyperkeratosis, Pruritus, Erythroderma, Palmoplantar keratoderma ORPHA:2897
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Non-Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Pruritus ORPHA:2337
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis, Neonatal death OMIM:609638
Hyperprolinemia, Type I
EEG abnormality, Hyperactivity, Aggressive behavior OMIM:239500
Fraxe Intellectual Disability
Impulsivity, Prominent ear helix, Hyperactivity, Aggressive behavior ORPHA:100973
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on hand, Eczematoid dermatitis, Pruritus on foot, Palmar pruritus, Pruritus, Pruritis on... ORPHA:64745
Intellectual Developmental Disorder, X-Linked 104
Abnormal pinna morphology, Hyperactivity, Optic atrophy, Tremor, Aggressive behavior OMIM:300983
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity, Aggressive behavior OMIM:248510
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Hyperactivity, Aggressive behavior OMIM:604317
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Tremor, Hyperactivity, Aggressive behavior OMIM:619470
Skin Fragility-Woolly Hair Syndrome
Acantholysis, Palmoplantar hyperkeratosis OMIM:607655
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Hypotrichosis 6
Pruritus, Follicular hyperkeratosis OMIM:607903
Glycine Encephalopathy
Impulsivity, Hyperactivity, Aggressive behavior, Irritability OMIM:605899
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Aggressive behavior OMIM:309548
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
EEG abnormality, Hyperactivity, Self-injurious behavior, Tremor, Low-set ears, Paroxysmal bursts ... OMIM:618718
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis OMIM:133200
Phenylketonuria
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... OMIM:261600
Lymphatic Malformation 4
Hyperkeratosis, Lymphedema OMIM:615907
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Porokeratosis
Hyperkeratosis, Pruritus ORPHA:79358
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Inappropriate behavior, EEG with generalized epileptiform... OMIM:619827
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Anxiety, Aggressive behavior, Macrotia, Low-set ears, Posteriorly rotated ears OMIM:609425
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Tremor, Choreoathetosis, Aggressive behavior, Dystonia OMIM:612716
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior, Dystonia ORPHA:382
Olmsted Syndrome 2
Palmoplantar hyperkeratosis, Perioral hyperkeratosis, Hyperkeratosis, Pruritus, Palmoplantar kera... OMIM:619208
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Hypotrichosis Simplex Of The Scalp
Pruritus, Atopic dermatitis, Hyperkeratosis, Parakeratosis ORPHA:90368
Warty Dyskeratoma
Acantholysis ORPHA:69745
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Olmsted Syndrome 1
Palmoplantar keratoderma, Subungual hyperkeratosis, Pruritus, Parakeratosis OMIM:614594
Bazex Syndrome
Hyperkeratosis, Edema, Pruritus, Palmoplantar keratoderma, Parakeratosis ORPHA:166113
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Anxiety, Abnormality of superior crus of antihelix, Prominent crus of helix, Atten... OMIM:301013
Lichen Planus Pemphigoides
Hyperkeratosis, Pruritus ORPHA:254478
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Irritability... ORPHA:206443
Rasmussen Subacute Encephalitis
EEG with focal spikes, Hyperactivity, Irritability, Continuous spike and waves during slow sleep,... ORPHA:1929
Psoriasis 2
Psoriasiform dermatitis, Hyperkeratosis, Parakeratosis OMIM:602723
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Laryngeal dystonia, Depression, Anxiety, Dystonia OMIM:616398
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:300918
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Bipolar affective disorder, Hyperactivity OMIM:619927
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Succinic Semialdehyde Dehydrogenase Deficiency
EEG abnormality, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:271980
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Hyperactivity, Dystonia OMIM:615924
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Palmoplantar keratoderma, Hyperkeratosis, Pruritus, Parakeratosis OMIM:615821
Lethal Acantholytic Erosive Disorder
Acantholysis, Oligohydramnios ORPHA:158687
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Aggressive behavior OMIM:619467
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Hyperactivity OMIM:618090
Naxos Disease
Diffuse palmoplantar hyperkeratosis, Subungual hyperkeratosis, Acantholysis, Hyperkeratosis, Palm... OMIM:601214
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Hyperkeratosis, Parakeratosis OMIM:604117
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, EEG with polyspike wave complexes OMIM:617169
Intellectual Developmental Disorder, Autosomal Recessive 39
Anteverted ears, Hyperactivity, Aggressive behavior, Macrotia OMIM:615541
Stiff Person Spectrum Disorder
Agoraphobia, Anxiety, Exaggerated startle response, Emotional lability ORPHA:3198
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, EEG abnormality, Hyperactivity, Inappropriate laughter ORPHA:411515
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Anxiety, Inappropriate beha... ORPHA:309246
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Acne inversa, Orthokeratosis, Hyperkeratosis OMIM:617337
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Cln5 Disease
EEG with focal spikes, Hyperactivity, EEG with spike-wave complexes, Anxiety, Tremor, Aggressive ... ORPHA:228360
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
EEG abnormality, Impulsivity, Hyperactivity, Aggressive behavior, Dystonia ORPHA:500180
Juvenile Huntington Disease
Depression, Hyperactivity, Dystonia, Irritability ORPHA:248111
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Early-Onset Schizophrenia
Impairment in personality functioning, Abnormal emotion/affect behavior, Depression, Anxiety, Low... ORPHA:96369
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Ichthyosis, Congenital, Autosomal Recessive 9
Erythroderma, Orthokeratosis, Hyperkeratosis OMIM:615023
Myoclonic-Astatic Epilepsy
Hyperactivity, EEG with focal spike waves, EEG with polyspike wave complexes, Abnormal emotion/af... ORPHA:1942
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Female Restricted Epilepsy With Intellectual Disability
Impulsivity, Anxiety, Hyperactivity, Aggressive behavior ORPHA:101039
Clcn4-Related X-Linked Intellectual Disability Syndrome
EEG with focal spikes, Self-injurious behavior, Hyperactivity, Depression, Anxiety, Aggressive be... ORPHA:485350
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Hyperkeratosis, Erythroderma, Palmoplantar keratoderma, Parakeratosis OMIM:612281
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Protruding ear, Hyperactivity, Tremor, Attention deficit hypera... OMIM:618342
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hearing impairment, Hyperactivity, Aggressive behavior ORPHA:457260
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Hyperactivity, Aggressive behavior, Macrotia OMIM:300558
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Hearing impairment, Hyperactivity, Aggressive behavior ORPHA:369939
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Uplifted earlobe, Hyperactivity OMIM:300143
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... ORPHA:1215
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with focal spikes, Skin-picking, Hyperactivity, Self-mutilation, EEG with generalized epilept... ORPHA:163681
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, Hyperactivity, EEG with spike-wave complexes, EEG with general... ORPHA:168491
Stiff-Person Syndrome
Agoraphobia, Exaggerated startle response, Opisthotonus, Depression, Anxiety OMIM:184850
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia ORPHA:3240
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Developmental And Epileptic Encephalopathy 103
Hyperactivity, Opisthotonus, EEG with polyspike wave complexes, Continuous spike and waves during... OMIM:619913
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Action tremor, Abnormal autonomic nervous system physiology, In... ORPHA:99027
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Infantile Krabbe Disease
Decreased nerve conduction velocity, Opisthotonus, Inappropriate crying, Irritability, Optic atro... ORPHA:206436
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Resting ... ORPHA:909
Stevens-Johnson Syndrome
Acantholysis ORPHA:36426
Infantile Neuroaxonal Dystrophy
Hyperactivity, Impulsivity, Abnormal autonomic nervous system physiology, Optic atrophy, Emotiona... ORPHA:35069
Toxic Epidermal Necrolysis
Acantholysis ORPHA:537
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Hypsarrhythmia, EEG with burst suppression OMIM:619239
Adenylosuccinase Deficiency
Happy demeanor, Hyperactivity, Opisthotonus, Self-mutilation, Aggressive behavior, Inappropriate ... OMIM:103050
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
X-Linked Creatine Transporter Deficiency
Hyperactivity, Aganglionic megacolon, Self-mutilation, Athetosis, Dystonia ORPHA:52503
X-Linked Adrenoleukodystrophy
Inappropriate sexual behavior, Hyperactivity, Progressive hearing impairment, Attention deficit h... ORPHA:43
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity diso... ORPHA:449291
Pitt-Hopkins-Like Syndrome 1
EEG abnormality, Hyperactivity, Aggressive behavior OMIM:610042
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity, Macrotia OMIM:618504
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Decreased nerve conduction... ORPHA:101085
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, Macrotia ORPHA:391307
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, EEG abnormality, Hyperactivity, EEG with abnormally slow frequencies, Tremor, Ina... ORPHA:98794
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Tay-Sachs Disease
Apathy, Exaggerated startle response OMIM:272800
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Intellectual Developmental Disorder, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity OMIM:617600
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Gm2-Gangliosidosis, Ab Variant
Dystonia, Apathy, Exaggerated startle response OMIM:272750
Mucopolysaccharidosis, Type Iiib
Hearing impairment, Hyperactivity, Aggressive behavior OMIM:252920
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Abnormal autonomic nervous system physiology, Self-mutilation, Postural hypotensio... OMIM:256800
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Intention tremor, Optic atrophy, Emotional lability, Dystonia OMIM:610217
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Tremor, Macrotia, Abnormality of peripheral n... ORPHA:90321
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Mend Syndrome
Low-set ears, Hyperactivity, Aggressive behavior, Abnormal auditory evoked potentials ORPHA:401973
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, External ear malformation, Exaggerated startle response, Anxiety ORPHA:438216
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Xerostomia, Acantholysis, Inflammatory abnormality of the skin, Skin rash ORPHA:95455
Asparagine Synthetase Deficiency
Exaggerated startle response, Hypsarrhythmia, Macrotia OMIM:615574
Tay-Sachs Disease
Exaggerated startle response, Laryngeal dystonia, Depression, Anxiety, Optic atrophy, Tremor, Hea... ORPHA:845
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Low-set, posteriorly rotated ears OMIM:618598
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Dystonia ORPHA:79330
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Trisomy 10P
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked pote... ORPHA:171929
Choreoacanthocytosis
Laryngeal dystonia, Limb dystonia, Emotional lability, Hyperactivity, Self-injurious behavior, Re... ORPHA:2388
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:133540
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:216400
Early Infantile Epileptic Encephalopathy
EEG abnormality, Hyperactivity, EEG with spike-wave complexes, Self-injurious behavior, EEG with ... ORPHA:1934
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Plaa-Associated Neurodevelopmental Disorder
Sensorineural hearing impairment, Exaggerated startle response, Low-set, posteriorly rotated ears... ORPHA:521426
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Emotional lability OMIM:620047
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Exaggerated startle response OMIM:617301
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor ORPHA:99819
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Protruding ear, Hyperactivity, Irritability, Hypsarrhythmia, Low-set ears, Hair-pulling ORPHA:447997
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor ORPHA:424
Gm1 Gangliosidosis Type 1
Hearing impairment, Low-set ears, Exaggerated startle response, Macrotia ORPHA:79255
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Hyperactivity, Depression, Optic atrophy, Tremor, Choreoathetosis, Dystonia OMIM:234200
Histidinemia
Hyperactivity ORPHA:2157
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Low-set ears, Posteriorly rotated ears, Exaggerated startle response OMIM:617527
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Exaggerated startle response OMIM:253800
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle OMIM:600901
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle OMIM:227650
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle OMIM:227645
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Microtia, Small earlobe, Attention deficit hyperactivity disorder, ... OMIM:619522
Fanconi Anemia, Complementation Group D2
Prolonged G2 phase of cell cycle OMIM:227646
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Dystonia ORPHA:438213
Seckel Syndrome 7
Microtia OMIM:614851
Microcephalic Primordial Dwarfism, Dauber Type
Microtia ORPHA:319675

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 Nin

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 Nin.

There are 12 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Deficiency of Ninjurin1 attenuates LPS/D-galactosamine-induced acute liver failure by reducing TNF-α-induced apoptosis in hepatocytes. Journal of cellular and molecular medicine (September 2022) Ninj1tm1c(KOMP)Wtsi PMC9575046
Pericyte-specific deletion of ninjurin-1 induces fragile vasa vasorum formation and enhances intimal hyperplasia of injured vasculature. American journal of physiology. Heart and circulatory physiology (May 2021) Ninj1tm1a(KOMP)Wtsi 33961504
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Ninj2tm1a(KOMP)Wtsi