Gene: Nin MGI:105108

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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 anxiety-related response Nintm1b(EUCOMM)Hmgu HOM Early adult 5.35×10-09
decreased startle reflex Nintm1b(EUCOMM)Hmgu HOM Early adult 4.91×10-09
abnormal auditory brainstem response Nintm1b(EUCOMM)Hmgu HOM   Early adult 1.48×10-06
decreased prepulse inhibition Nintm1b(EUCOMM)Hmgu HOM Early adult 2.38×10-33
hyperactivity Nintm1b(EUCOMM)Hmgu HOM Early adult 1.75×10-13

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Select physiological systems to view:
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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  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
N/A heterozygote 100% (9 of 9)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 9)
N/A homozygote 100% (2 of 2)
N/A heterozygote 77.78% (7 of 9)
N/A homozygote 100% (2 of 2)
N/A heterozygote 100% (9 of 9)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 9)
N/A homozygote Ambiguous
N/A heterozygote 77.78% (7 of 9)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 9)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 9)
N/A homozygote Ambiguous
N/A heterozygote 100% (9 of 9)
N/A homozygote 100% (2 of 2)
N/A heterozygote 100% (9 of 9)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 9)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 9)
N/A homozygote Ambiguous
N/A heterozygote 77.78% (7 of 9)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 9)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 9)
N/A homozygote Ambiguous
N/A heterozygote 100% (9 of 9)
N/A homozygote 100% (2 of 2)
N/A heterozygote 22.22% (2 of 9)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 9)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 9)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 9)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 9)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 9)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 9)
N/A homozygote Ambiguous
N/A heterozygote 77.78% (7 of 9)
N/A homozygote 100% (2 of 2)
N/A heterozygote 77.78% (7 of 9)
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 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)
cranium
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)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
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)
thalamus 0.0%
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%

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 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forearm 0.33% (1 of 304)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lower leg 0.33% (1 of 304)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
upper arm 0.33% (1 of 304)
upper leg 0.33% (1 of 304)

Associated Images

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

Embryo LacZ

LacZ images wholemount

223 Images

Adult LacZ

LacZ Images Wholemount

377 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Developmental And Epileptic Encephalopathy 56
Ataxia, EEG abnormality, Anxiety, Attention deficit hyperactivity disorder, Broad-based gait OMIM:617665
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Pruritus OMIM:146750
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Recurrent cutaneous fungal infections, Palmoplantar keratoderma OMIM:244850
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Porokeratosis Of Mibelli
Hyperkeratosis, Pruritus ORPHA:735
Familial Alzheimer-Like Prion Disease
Emotional lability, Anxiety, Attention deficit hyperactivity disorder, Depression ORPHA:280397
Epidermolysis Bullosa Simplex, Localized
Hyperkeratosis OMIM:131800
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Hyperkeratosis, Palmoplantar keratoderma OMIM:616400
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Familial Reactive Perforating Collagenosis
Pruritus, Hyperkeratotic papule, Perifolliculitis, Maculopapular exanthema, Crusting erythematous... ORPHA:79147
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617574
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Depr... OMIM:619279
Dystonia 11, Myoclonic
Tremor, Depression, Agoraphobia, Writer's cramp, Torticollis, Anxiety OMIM:159900
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis OMIM:101850
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis OMIM:270220
Dermatoleukodystrophy
Hyperkeratosis ORPHA:1659
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive
Hyperkeratosis OMIM:615028
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Cole Disease
Hyperkeratosis, Palmoplantar keratoderma OMIM:615522
Pemphigus Erythematosus
Pruritus, Acantholysis, Crusting erythematous dermatitis ORPHA:79480
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Recurrent skin infections, Diffuse palmoplantar hyperkeratosis ORPHA:79503
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Immunodeficiency 8
Hyperactivity OMIM:615401
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity ORPHA:436151
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Acantholysis ORPHA:704
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Tremor, Aggressive behavior, Broad-based gait, Resting tremor, Irrita... ORPHA:3077
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Huntington Disease-Like 2
Dystonia, Depression, Apathy, Action tremor, Bradykinesia, Irritability, Anxiety OMIM:606438
Superficial Epidermolytic Ichthyosis
Acantholysis, Edema, Palmoplantar keratoderma ORPHA:455
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Ichthyosis, Congenital, Autosomal Recessive 14
Hyperkeratosis, Orthokeratotic hyperkeratosis, Pruritus OMIM:617571
Pemphigus Foliaceus
Crusting erythematous dermatitis, Acantholysis ORPHA:79481
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hyperkeratosis, Pruritus, Plantar hyperkeratosis, Palmar hyperkeratosis ORPHA:79399
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Acantholysis, Palmoplantar keratoderma, Erythroderma, Recurrent skin infections, Psoriasiform der... OMIM:615508
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Depression, Resting tremor, Bradykinesia, Emotional lability, Craniofacial dystonia,... ORPHA:71517
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Depression, Resting tremor, Bradykinesia, Anxiety OMIM:605909
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Follicular hyperkeratosis, Chronic furunculosis, Recurrent cutaneous abscess fo... OMIM:613736
Darier-White Disease
Pruritus, Subungual hyperkeratotic fragments, Acantholysis OMIM:124200
Pachyonychia Congenita 4
Hyperkeratosis, Palmoplantar keratoderma OMIM:615728
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Abnormal auditory evoked potentials... ORPHA:320401
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Depression, Head tremor, Action tremor, Progressive cerebella... OMIM:604326
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Abnormality of the pinna, Ataxia, Hyperactivity, Optic atrophy OMIM:300983
Hyperprolinemia, Type I
EEG abnormality, Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Dystonia 12
Dystonia, Depression, Bradykinesia, Emotional lability, Torticollis, Unsteady gait, Anxiety OMIM:128235
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Normal interictal EEG, Anxiety OMIM:602066
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Iga Pemphigus
Pruritus, Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Acantholysis ORPHA:555905
Landau-Kleffner Syndrome
EEG with frontal focal spikes, EEG with temporal focal spikes, Interictal EEG abnormality, Aggres... ORPHA:98818
Acquired Ichthyosis
Hyperkeratosis, Pruritus, Recurrent skin infections, Palmoplantar keratoderma ORPHA:454
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity OMIM:605899
Lennox-Gastaut Syndrome
Personality disorder, Aggressive behavior, EEG with focal sharp slow waves, EEG abnormality, Fall... ORPHA:2382
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Dystonia, Attention deficit hyperactivity disorder, Absent brainstem a... ORPHA:52368
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617526
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
Skin Fragility-Woolly Hair Syndrome
Palmoplantar keratosis with erythema and scale, Acantholysis OMIM:607655
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Pruritus ORPHA:409
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia OMIM:300928
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis ORPHA:2337
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Aggressive behavior, Hyperactivity OMIM:248510
Ichthyosis With Confetti
Hyperkeratosis, Erythroderma, Palmoplantar hyperkeratosis OMIM:609165
Fraxe Intellectual Disability
Prominent ear helix, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death, Acantholysis OMIM:609638
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on abdomen, Pruritus, Palmar pruritus, Pruritus on foot, Eczematoid dermatitis, Pruritis... ORPHA:64745
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Pityriasis Rubra Pilaris
Pruritus, Pustule, Palmoplantar keratoderma, Erythroderma, Subungual hyperkeratosis, Eczema ORPHA:2897
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, EEG with spike-wave complexes, Truncal ataxia, Agg... ORPHA:228360
Late-Infantile/Juvenile Krabbe Disease
Tremor, Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic act... ORPHA:206443
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Hypsarrhythmia, Depression, EEG with focal epileptiform discharges, Multifocal epilepti... ORPHA:88616
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduc... OMIM:601455
Juvenile Huntington Disease
Dystonia, Gait ataxia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Irritabil... ORPHA:248111
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Blepharospasm, Resting tremor, Bradykinesia, Leg dystonia, Anxiety OMIM:606324
Hypotrichosis 6
Follicular hyperkeratosis, Pruritus OMIM:607903
Stiff Person Spectrum Disorder
Difficulty walking, Agoraphobia, Emotional lability, Exaggerated startle response, Falls, Anxiety ORPHA:3198
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Attention... OMIM:261600
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Macrotia, Posteriorly rotated ears, Anxiety, Hyperactivity OMIM:609425
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Self-injurious behavior, Paroxysmal bursts of laughter, EEG abnormalit... OMIM:618718
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Porokeratosis
Hyperkeratosis, Pruritus ORPHA:79358
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity, Macrotia OMIM:300558
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis OMIM:133200
Lymphatic Malformation 4
Hyperkeratosis, Lymphedema OMIM:615907
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Mental Retardation, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Macrotia OMIM:615541
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Tremor, Ataxia, Dystonia OMIM:615924
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Macrotia OMIM:301013
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Olmsted Syndrome 2
Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Parakeratosis, Perioral hyperkeratosis, Palmo... OMIM:619208
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Bazex Syndrome
Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Edema, Parakeratosis ORPHA:166113
Vulvovaginal Gingival Syndrome
Pruritus, Parakeratosis ORPHA:83453
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, EEG abnormality, Anxiety, Hyperactivity OMIM:271980
Olmsted Syndrome 1
Subungual hyperkeratosis, Pruritus, Palmoplantar keratoderma, Parakeratosis OMIM:614594
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, EEG abnormality, Hyperactivity, Broad-based gait, Happy demeanor ORPHA:411515
Lichen Planus Pemphigoides
Hyperkeratosis, Pruritus ORPHA:254478
Sotos Syndrome 3
Hyperactivity OMIM:617169
Ichthyosis, Congenital, Autosomal Recessive 6
Hyperkeratosis, Erythroderma, Palmoplantar keratoderma, Parakeratosis OMIM:612281
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Psoriasis 2
Hyperkeratosis, Psoriasiform dermatitis, Parakeratosis OMIM:602723
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Pruritus, Parakeratosis ORPHA:158681
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, EEG with focal epileptiform discharges, Interictal epileptiform ... ORPHA:1929
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Olmsted Syndrome, X-Linked
Palmoplantar keratoderma, Hyperkeratosis, Subungual hyperkeratosis, Parakeratosis, Palmoplantar h... OMIM:300918
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Hyperkeratosis, Pruritus, Palmoplantar keratoderma, Parakeratosis OMIM:615821
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Anxiety, Abnormal fear/anxiety-related behavior, Inapprop... ORPHA:309246
Perry Syndrome
Tremor, Dystonia, Disinhibition, Akinesia, Depression, Apathy, Bradykinesia, Anxiety, Inappropria... OMIM:168605
Lethal Acantholytic Erosive Disorder
Oligohydramnios, Acantholysis ORPHA:158687
Myoclonic-Astatic Epilepsy
Tremor, Abnormal emotion/affect behavior, EEG with generalized slow activity, EEG with polyspike ... ORPHA:1942
Mental Retardation, Autosomal Recessive 61
Posteriorly rotated ears, EEG abnormality, Aggressive behavior, Hyperactivity OMIM:617773
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Impulsivity, EEG abnormality, Hype... ORPHA:500180
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Aggressive behavior, Hyperactivity OMIM:618342
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive... ORPHA:485350
Optic Atrophy 11
Facial diplegia, Macrotia, Ataxia, Hearing impairment, Dysmetria, Hyperactivity, Optic atrophy OMIM:617302
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Lethargy, Hyperactivity OMIM:274270
Vohwinkel Syndrome, Variant Form
Hyperkeratosis, Orthokeratosis, Parakeratosis OMIM:604117
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sensorineural hearing im... ORPHA:1215
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Adult-Onset Autosomal Dominant Leukodystrophy
Dysdiadochokinesis, Tremor, Gait ataxia, Autonomic bladder dysfunction, Orthostatic hypotension, ... ORPHA:99027
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Hyperkeratosis, Acne inversa, Orthokeratosis OMIM:617337
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hearing impairment, Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, EEG with spike-wave complexes, EEG with series of focal spikes, Aggressive beh... ORPHA:168491
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma, Orthokeratosis, Palmoplantar keratoderma, Parakeratosis OMIM:604777
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:101039
Naxos Disease
Palmoplantar keratoderma, Acantholysis OMIM:601214
Ck Syndrome
Posteriorly rotated ears, Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Gait ataxia, Head tremor, Limb ataxia, Absent brainstem auditory responses, Se... ORPHA:101085
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Ck Syndrome
Posteriorly rotated ears, Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Peeling Skin Syndrome 4
Hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma OMIM:607936
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hearing impairment, Optic atrophy, Aggressive behavior, Hyperactivity ORPHA:369939
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Abnormal autonomic nervous system physiology, Ataxia, Emotional labil... ORPHA:35069
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Impulsivity, Hyperactivity OMIM:300143
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Impulsivity, Dysmetr... OMIM:610217
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor OMIM:617865
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Emotional lability, Limb tremor, Exaggerated startle response, Torticoll... OMIM:608643
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Gait disturbance, Ataxia, EEG abnormality, Broad-... ORPHA:206448
Hyperphosphatasia With Mental Retardation Syndrome 6
Thickened helices, Aggressive behavior, EEG with multifocal slow activity, Hyperactivity, Large e... OMIM:616809
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Stiff-Person Syndrome
Depression, Agoraphobia, Opisthotonus, Exaggerated startle response, Anxiety OMIM:184850
Mental Retardation, Autosomal Dominant 7
Thickened helices, Inappropriate laughter, Macrotia, Gait disturbance, Abnormality of the pinna, ... OMIM:614104
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Inappropriate laughter, Ataxia, EEG with abnormally slow frequencies, EEG abnormality, Hy... ORPHA:98794
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hearing impairment, Aggressive behavior, Broad-based gait, Hyperactivity OMIM:300958
Cerebrotendinous Xanthomatosis
Personality disorder, Dystonia, Aggressive behavior, Depression, Gait disturbance, Resting tremor... ORPHA:909
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Head titubation ORPHA:3240
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Gait disturbance, Inappropriate sexual behavior, Hyperactivit... ORPHA:43
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Aggressive behavior, Abnormality of the pinna, Hyperactivity, Mood swings OMIM:300354
Pitt-Hopkins-Like Syndrome 1
EEG abnormality, Aggressive behavior, Ataxia, Hyperactivity OMIM:610042
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Inappropriate laughter, Gait ataxia, Aggressive behavior, Opi... OMIM:103050
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
Pachyonychia Congenita 3
Chapped lip, Palmoplantar keratoderma, Hyperkeratosis, Palmar hyperkeratosis, Plantar hyperkeratosis OMIM:615726
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
Coffin-Siris Syndrome 7
Posteriorly rotated ears, Hearing impairment, Hyperactivity, Macrotia OMIM:618027
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Ataxia, Optic disc pallor OMIM:619260
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Hyperactivity OMIM:615286
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Depression, Macrotia, Self-injurious behavior, Irritability, Anxiety, Hypera... ORPHA:449291
Stevens-Johnson Syndrome
Acantholysis ORPHA:36426
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Inappropriate crying, Opisthotonus, Hearing impai... ORPHA:206436
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, EEG with burst suppression, Hypsarrhythmia OMIM:619239
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Aganglionic megacolon, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response, Optic atrophy, Optic disc pallor ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Exaggerated startle response, Ataxia OMIM:618598
Smith-Magenis Syndrome
Self-mutilation, Morphological abnormality of the middle ear, Head-banging, Hearing impairment, E... OMIM:182290
Toxic Epidermal Necrolysis
Acantholysis ORPHA:537
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder, Macrotia OMIM:618504
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Sensorineural hearing impairment, Aggressive behavior, Hyperactivity OMIM:600430
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Ataxia, Limb dystonia, Hyperactivity ORPHA:363400
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Irritability, Aggressive behavior, Macrotia ORPHA:391307
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Macrotia, Ataxia, Hypsarrhythmia OMIM:300912
Rubinstein-Taybi Syndrome 2
Posterior helix pit, Hyperactivity OMIM:613684
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Ataxia, Posteriorly rotated ears... OMIM:601853
Gm2-Gangliosidosis, Ab Variant
Apathy, Exaggerated startle response, Dystonia OMIM:272750
Cockayne Syndrome Type 1
Tremor, Macrotia, Difficulty walking, Gait disturbance, Ataxia, Hearing impairment, Absent brains... ORPHA:90321
Angelman Syndrome
Progressive gait ataxia, Paroxysmal bursts of laughter, Limb tremor, EEG abnormality, Hyperactivi... OMIM:105830
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response, Anxiety, Broad-based gait ORPHA:438216
Cri-Du-Chat Syndrome
Self-mutilation, Aggressive behavior, Difficulty walking, Abnormality of the pinna, Hearing impai... OMIM:123450
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Optic atrophy, Optic disc pallor OMIM:609541
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Ataxia, Hyperactivity ORPHA:228402
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Abnormal autonomic nervous system physiology, Long-segment ... OMIM:609136
Angelman Syndrome
Inability to walk, Tremor, Inappropriate laughter, Aggressive behavior, Broad-based gait, Self-in... ORPHA:72
Tay-Sachs Disease
Inability to walk, Tremor, Dystonia, Depression, Gait disturbance, Laryngeal dystonia, Hearing im... ORPHA:845
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Tay-Sachs Disease
Apathy, Exaggerated startle response OMIM:272800
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Protruding ear, Fatigable weakness of skeletal musc... ORPHA:166108
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Low-set, posteriorly rotated ears, Aggressive behavior, Self-biting ORPHA:3306
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous s... OMIM:256800
Mucopolysaccharidosis, Type Iiib
Hearing impairment, Aggressive behavior, Hyperactivity OMIM:252920
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Ataxia, Posteriorly rotated ears, Anxiety, Hyperactivity OMIM:618430
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Bilateral sensorineural hearing impairment, Sensorineural hearing impairment, Hyperactivity, Atte... ORPHA:73272
Fragile X Syndrome
Hyperactivity, Macrotia OMIM:300624
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Aggressive behavior, Macrotia, Ataxia, Multifocal epileptiform discharges, Hearing impairment, EE... ORPHA:369891
13Q12.3 Microdeletion Syndrome
Self-mutilation, Hearing impairment, Hyperactivity ORPHA:412035
16P12.1P12.3 Triplication Syndrome
Skin-picking, Nail-biting, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder, Larg... ORPHA:485405
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Choreoacanthocytosis
Hair-pulling, Head titubation, Emotional lability, Head-banging, Progressive inability to walk, F... ORPHA:2388
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
X-Linked Intellectual Disability, Cabezas Type
Tremor, Aggressive behavior, EEG abnormality, Hyperactivity, Abnormality of earlobe, Broad-based ... ORPHA:85293
Cockayne Syndrome A
Tremor, Gait disturbance, Abnormality of the pinna, Ataxia, Abnormal auditory evoked potentials, ... OMIM:216400
19P13.3 Microduplication Syndrome
Self-injurious behavior, Posteriorly rotated ears, Irritability, Hyperactivity, Microtia ORPHA:447980
Lamb-Shaffer Syndrome
Optic atrophy, Ataxia, Hyperactivity ORPHA:530983
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Aggressive behavior, Abnormally folded helix, Emotional lability, Low frustration tolerance, Hype... OMIM:309520
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Inappropriate laughter, Low frustration tolerance, Optic nerve hypoplasia, Hyper... ORPHA:363686
Mend Syndrome
Abnormal auditory evoked potentials, Aggressive behavior, Hyperactivity ORPHA:401973
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Skin rash, Xerostomia, Acantholysis, Inflammatory abnormality of the skin ORPHA:95455
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Tremor, Akinesia, Depression, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hy... OMIM:234200
Asparagine Synthetase Deficiency
Exaggerated startle response, Macrotia, Hypsarrhythmia OMIM:615574
Cockayne Syndrome B
Tremor, Abnormality of the pinna, Ataxia, Abnormal auditory evoked potentials, Sensorineural hear... OMIM:133540
Glass Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait, Happy demeanor OMIM:612313
Mucopolysaccharidosis, Type Iiia
Hearing impairment, Hyperactivity OMIM:252900
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Chromosome 10Q26 Deletion Syndrome
Aggressive behavior, Sensorineural hearing impairment, Protruding ear, Hyperactivity, Broad-based... OMIM:609625
Citrullinemia Type Ii
Tremor, Lethargy, Aggressive behavior, Irritability, Hyperactivity ORPHA:247585
Trisomy 10P
Low voltage EEG, Macrotia, EEG with burst suppression, Posteriorly rotated ears, Abnormal auditor... ORPHA:171929
Pediatric-Onset Graves Disease
Hyperactivity, Tremor, Irritability, Mood swings ORPHA:525731
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
47,Xyy Syndrome
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Early Infantile Epileptic Encephalopathy
Tremor, Uni- and bilateral multifocal epileptiform discharges, EEG with spike-wave complexes, Dys... ORPHA:1934
Hyperlysinemia
Tremor, EEG with spike-wave complexes, Hypoplastic helices, Hypoplasia of the antihelix, Opisthot... ORPHA:2203
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Hyperactivity OMIM:609727
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Hypsarrhythmia, Low-set, posteriorly rotated ears, Exaggerated startle response, Sensor... ORPHA:521426
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Hearing impairment, Dysmetria, H... ORPHA:139396
Sandhoff Disease
Exaggerated startle response, Ataxia, Orthostatic hypotension OMIM:268800
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Aggressive behavior, Ataxia, Unsteady gait, Protruding ear, Dysmetria, Hyperactivity, Short ear OMIM:614756
Joubert Syndrome 1
Self-mutilation, Aggressive behavior, Ataxia, Hyperactivity, Optic disc pallor OMIM:213300
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Macrotia OMIM:300486
Mucopolysaccharidosis, Type Iiic
Hearing impairment, Hyperactivity OMIM:252930
Mucopolysaccharidosis Type 3
Thickened helices, Fatigable weakness of swallowing muscles, Disinhibition, Aggressive behavior, ... ORPHA:581
Familial Gestational Hyperthyroidism
Hand tremor, Hyperactivity ORPHA:99819
White-Sutton Syndrome
Aggressive behavior, Self-injurious behavior, Posteriorly rotated ears, Sensorineural hearing imp... ORPHA:468678
Purine Nucleoside Phosphorylase Deficiency
Sensorineural hearing impairment, Ataxia, Hyperactivity ORPHA:760
7Q11.23 Microduplication Syndrome
Aggressive behavior, Large earlobe, Overfolded helix, Low-set, posteriorly rotated ears, Self-inj... ORPHA:96121
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Hyperactivity ORPHA:424
Brain-Lung-Thyroid Syndrome
Dystonia, Intention tremor, Ataxia, Sensorineural hearing impairment, Falls, Hyperactivity ORPHA:209905
Stankiewicz-Isidor Syndrome
Hyperactivity, Hearing impairment, Abnormality of the optic disc OMIM:617516
Argininemia
Spastic gait, Irritability, Hyperactivity OMIM:207800
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy OMIM:617301
Histidinemia
Hyperactivity ORPHA:2157
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hypsarrhythmia, Protruding ear, Irritability, Hyperactivity ORPHA:447997
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Gm1 Gangliosidosis Type 1
Hearing impairment, Exaggerated startle response, Macrotia ORPHA:79255
Brooks-Wisniewski-Brown syndrome
Posteriorly rotated ears, Cupped ear, Protruding ear, EEG abnormality, Hyperactivity, Optic atrophy OMIM:300612
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Posteriorly rotated ears, Exaggerated startle response, Optic atrophy OMIM:617527
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Orthostatic hypotension due to autonomic dysfunction, Abnormal emotion/affect be... ORPHA:642
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy OMIM:253800
Wiedemann-Steiner Syndrome
Anxiety, Low frustration tolerance, Aggressive behavior, Hyperactivity ORPHA:319182
Tuberous Sclerosis Complex
Aggressive behavior, Depression, Self-injurious behavior, Impulsivity, Anxiety, Hyperactivity, At... ORPHA:805
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aggressive behavior, Conductive hearing impairment, Self-injurious behavior, Agoraphobia, Emotion... ORPHA:353281
Mucopolysaccharidosis Type 2
Otosclerosis, Aggressive behavior, Conductive hearing impairment, Papilledema, Impulsivity, Senso... ORPHA:580
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aggressive behavior, Conductive hearing impairment, Self-injurious behavior, Agoraphobia, Emotion... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aggressive behavior, Conductive hearing impairment, Self-injurious behavior, Agoraphobia, Emotion... ORPHA:353277
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
Fanconi Anemia, Complementation Group D2
Prolonged G2 phase of cell cycle OMIM:227646
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Dystonia, Exaggerated startle response, Optic disc pallor, Broad-based gait 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 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Pericyte-Specific Ninjurin1 Deletion Attenuates Vessel Maturation and Blood Flow Recovery in Hind Limb Ischemia. Arteriosclerosis, thrombosis, and vascular biology (October 2018) Ninj1tm1a(KOMP)Wtsi PMC6166707
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Nintm1b(EUCOMM)Hmgu PMC5638796
Ninjurin 1 has two opposing functions in tumorigenesis in a p53-dependent manner. Proceedings of the National Academy of Sciences of the United States of America (October 2017) Ninj1tm1b(KOMP)Wtsi PMC5664541
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017)