Gene Summary

Name:
transglutaminase 3, E polypeptide
Synonyms:
TG E,  we

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
abnormal kidney morphology Tgm3tm1b(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 5)
Brain N/A heterozygote 0.0% (0 of 5)
Brain N/A homozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 5)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 5)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 5)
Footplate N/A homozygote 0.0% (0 of 2)
Forearm N/A heterozygote 0.0% (0 of 5)
Forearm N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 5)
Forebrain N/A homozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 5)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 5)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 5)
Heart N/A homozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 5)
Hindbrain N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 5)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 5)
Liver N/A homozygote 0.0% (0 of 2)
Lower leg N/A heterozygote 0.0% (0 of 5)
Lower leg N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 5)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 5)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 5)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 5)
Midbrain N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 5)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 5)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 5)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 5)
Tail N/A homozygote 0.0% (0 of 2)
Upper arm N/A heterozygote 0.0% (0 of 5)
Upper arm N/A homozygote 0.0% (0 of 2)
Upper leg N/A heterozygote 0.0% (0 of 5)
Upper leg N/A homozygote 0.0% (0 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.

Adult LacZ

LacZ Images Wholemount

183 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

18 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Legacy Phenotype Associated Images

Human diseases caused by Tgm3 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 Tgm3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410

The table below shows human diseases predicted to be associated to Tgm3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair OMIM:617252
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Pili Gemini
Abnormal hair laboratory examination, Hair shafts flattened at irregular intervals and twisted th... ORPHA:79492
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Tented Eyebrows
Abnormal hair morphology OMIM:611426
Ringed Hair
Abnormal hair morphology OMIM:180600
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections, Edema, Abnormal hair morphology ORPHA:345
Hypotrichosis 6
Pruritus, Sparse hair, Sparse and thin eyebrow, Brittle hair, Pili torti, Sparse eyelashes OMIM:607903
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Absent eyelashes, Absent eyebrow, Brittle hair, Alopecia, Congenital onychodystrophy... OMIM:602032
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Witkop Syndrome
Nail pits, Small nail, Sparse hair, Ridged nail, Concave nail, Fine hair OMIM:189500
Hypotrichosis 7
Woolly hair, Sparse and thin eyebrow, Sparse hair, Sparse eyelashes OMIM:604379
Pili Torti
Abnormal eyebrow morphology, Abnormality of the nail, Brittle hair, Alopecia, Abnormality of hair... ORPHA:2889
Uncombable Hair Syndrome 1
Pili canaliculi, Uncombable hair, Dry hair OMIM:191480
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Monilethrix
Sparse hair, Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy OMIM:158000
Ectodermal Dysplasia 7, Hair/Nail Type
Onycholysis, Sparse hair, Sparse and thin eyebrow, Brittle hair, Alopecia, Dystrophic toenail, Dy... OMIM:614929
Peeling Skin Syndrome 1
Pruritus, Onycholysis, Brittle hair, Abnormality of hair texture OMIM:270300
Woolly Hair, Autosomal Dominant
Dry hair, Abnormal hair morphology, Coarse hair, Slow-growing hair, Woolly hair OMIM:194300
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Crandall Syndrome
Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair, Pili torti ORPHA:202
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Coarse hair, Sparse and thin eyebrow, Brittle hair, Sparse eyelashes OMIM:234030
Monilethrix
Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S... ORPHA:573
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Trichodysplasia-Xeroderma
Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Tiger tail banding OMIM:618546
Trichodental Dysplasia
Fine hair, Brittle hair, Sparse hair, Slow-growing hair OMIM:601453
Trichothiodystrophy 3, Photosensitive
Erythroderma, Brittle hair, Tiger tail banding OMIM:616395
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Dwarfism, Familial, With Muscle Spasms
Sparse scalp hair, Brittle scalp hair, Fine hair OMIM:600771
Pili Torti-Onychodysplasia Syndrome
Trichodysplasia, Absent eyelashes, Absent eyebrow, Alopecia universalis, Alopecia, Brittle hair, ... ORPHA:2890
Trichothiodystrophy 2, Photosensitive
Brittle hair, Coarse hair, Tiger tail banding OMIM:616390
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Marie Unna Hereditary Hypotrichosis
Coarse hair, Sparse scalp hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of the e... ORPHA:444
Pilodental Dysplasia With Refractive Errors
Sparse scalp hair, Brittle scalp hair, Abnormality of the nail, Brittle hair OMIM:262020
Pili Torti, Early-Onset
Dry hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about thei... OMIM:261900
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Pili torti, Fine hair ORPHA:1573
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Sabinas Brittle Hair Syndrome
Sparse hair, Dry hair, Nail dysplasia, Brittle hair, Nail dystrophy OMIM:211390
Palmoplantar Keratoderma And Congenital Alopecia 1
Sparse eyebrow, Sparse hair, Leukonychia, Nail dysplasia, Brittle hair, Alopecia OMIM:104100
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse hair, Curly hair, Sparse and thin eyebrow, Brittle hair, Pili torti OMIM:602400
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Sparse axillary hair, Sparse scalp hair, Sparse pubic hair, Alopecia ORPHA:505
Clouston Syndrome
Onycholysis, Small nail, Absent pubic hair, Absent axillary hair, Slow-growing hair, Nail dysplas... OMIM:129500
Bjornstad Syndrome
Dry hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about thei... OMIM:262000
Cardiofaciocutaneous Syndrome 2
Fine hair, Curly hair, Sparse hair, Absent eyebrow OMIM:615278
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly hair, Woolly scalp hair, Alopecia OMIM:601217
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dysplasia, Sparse and thin eyebrow, Brittle hair, Abnormality of hair texture, Progressive h... OMIM:225060
Naxos Disease
Sparse scalp hair, Curly hair, Woolly hair, Abnormality of hair texture ORPHA:34217
Trichohepatoenteric Syndrome 2
Sparse hair, Uncombable hair, Brittle hair, Pili canaliculi, Woolly hair, Trichorrhexis nodosa OMIM:614602
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Sparse and thin eyebrow, Sparse body hair, Woolly hair, Woolly sc... OMIM:616099
Hypotrichosis 12
Sparse hair, Dry hair, Slow-growing hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the e... OMIM:615885
Copper Deficiency, Familial Benign
Curly hair, Seborrheic dermatitis, Early balding OMIM:121270
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Netherton Syndrome
Brittle scalp hair, Erythroderma, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Hyper... OMIM:256500
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Brittle hair, Sparse hair ORPHA:1883
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Onychogryposis of toenails, Sparse hair, Dry hair OMIM:164680
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Trichothiodystrophy 6, Nonphotosensitive
Brittle hair, Tiger tail banding, Slow-growing hair OMIM:616943
Carvajal Syndrome
Woolly hair ORPHA:65282
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Brittle hair, Alopecia ORPHA:50812
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Sparse hair, Nail dysplasia, Concave nail, Brittle hair, Abnormality of hair texture,... OMIM:234050
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Progeroid Syndrome, Petty Type
Abnormality of the nail, Sparse hair, Abnormal hair morphology, Long eyelashes in irregular rows,... ORPHA:2963
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Fine hair, Abnormal fingernail m... ORPHA:248
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia-Mental Retardation Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 3
Alopecia universalis OMIM:613930
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Mental Retardation, Autosomal Dominant 34
Curly hair, Oligohydramnios, Coarse hair, Synophrys OMIM:616351
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the nail, Hypoplastic toenails, Thin toenail, Ridged fingernail, Hypoplastic finge... ORPHA:2228
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Sparse hair, Tiger tail banding, Slow-growing hair OMIM:300953
Bazex Syndrome
Atopic dermatitis, Trichorrhexis nodosa, Sparse hair, Coarse hair, Trichoepithelioma, Eczema, Acn... OMIM:301845
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Sparse hair ORPHA:1174
Noonan Syndrome 6
Polyhydramnios, Sparse hair, Curly hair, Edema, Long eyebrows, Low posterior hairline OMIM:613224
Leopard Syndrome 2
Curly hair OMIM:611554
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Nail dystrophy, Brittle hair, Coarse hair, Alopecia ORPHA:75389
Epidermolysis Bullosa Acquisita
Pruritus, Nail dystrophy, Abnormal hair morphology ORPHA:46487
Choroidal Atrophy-Alopecia Syndrome
Sparse hair, Ungual fibroma, Sparse or absent eyelashes, Abnormal toenail morphology, Supernumera... ORPHA:1433
Noonan Syndrome 8
Polyhydramnios, Eczema, Curly hair, Pleural effusion OMIM:615355
Ectodermal Dysplasia-Syndactyly Syndrome 1
Hypoplastic toenails, Small nail, Coarse hair, Absent facial hair, Sparse scalp hair, Sparse and ... OMIM:613573
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse hair, Slow-growing hair, Nail dysplasia, Sparse and thin eyebrow, Fine hair, Sparse eyelashes OMIM:129490
Trichothiodystrophy 1, Photosensitive
Small nail, Sparse hair, Erythroderma, Tiger tail banding, Nail dystrophy, Brittle hair, Abnormal... OMIM:601675
Onychotrichodysplasia And Neutropenia
Short eyelashes, Curly hair, Sparse pubic hair, Concave nail, Hypoplastic fingernail, Curly eyela... OMIM:258360
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Bazex-Dupré-Christol Syndrome
Sparse hair, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Sparse or absent eyelashes,... ORPHA:113
Brachycephaly, Trichomegaly, And Developmental Delay
Highly arched eyebrow, Long eyelashes, Synophrys, Thick eyebrow, Brittle hair OMIM:617412
Cardiofaciocutaneous Syndrome 3
Curly hair OMIM:615279
Pachyonychia Congenita 2
Folliculitis, Dry hair, Nail dysplasia, Subungual hyperkeratosis, Sparse scalp hair, Sparse and t... OMIM:167210
Noonan Syndrome 5
Polyhydramnios, Small nail, Sparse eyebrow, Curly hair, Fine hair OMIM:611553
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Nail dysplasia, Thick eyebrow, Facial hirsutism, Curly eyelashes, Low posterior hairl... ORPHA:163654
Hawkinsinuria
Fine hair, Sparse hair ORPHA:2118
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Dystrophic toenail, Dystrophic fingernails,... ORPHA:1882
Leopard Syndrome 3
Curly hair, Low posterior hairline OMIM:613707
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Brittle hair, Dry hair, Nail dystrophy ORPHA:93947
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair OMIM:617360
Noonan Syndrome 9
Curly hair, Sparse eyebrow OMIM:616559
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Polyhydramnios, Sparse eyebrow, Brittle hair OMIM:618810
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Nail dystrophy OMIM:131850
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Sparse lateral eyebrow, Sparse or absent eyelashes, Brittle hair, Aplasia/Hypo... ORPHA:3353
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Coarse hair, Abnormality of hair texture OMIM:219200
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Woolly hair, Edema OMIM:605676
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Leukonychia, Woolly hair, Nail dystrophy, Fragile nails OMIM:615821
Mandibuloacral Dysplasia With Type B Lipodystrophy
Brittle hair, Sparse hair, Alopecia, Abnormality of hair texture OMIM:608612
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Thick eyebrow, Coarse hair, Synophrys ORPHA:1021
Skin Fragility-Woolly Hair Syndrome
Nail dysplasia, Sparse and thin eyebrow, Alopecia, Woolly hair, Nail dystrophy, Sparse eyelashes OMIM:607655
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Smith-Kingsmore Syndrome
Curly hair OMIM:616638
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Coarse hair OMIM:248010
Olmsted Syndrome 2
Alopecia universalis, Pruritus, Woolly hair, Sparse hair OMIM:619208
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Nail dystrophy, Abnormality of hair texture OMIM:601957
Naxos Disease
Onycholysis, Curly hair, Sparse and thin eyebrow, Sparse body hair, Woolly hair, Nail dystrophy OMIM:601214
Argininosuccinic Aciduria
Cerebral edema, Trichorrhexis nodosa, Brittle hair, Dry hair OMIM:207900
Noonan Syndrome 7
Curly hair, Low posterior hairline OMIM:613706
Growth Hormone Insensitivity Syndrome
Abnormality of the nail, Fine hair ORPHA:181393
Sulfite Oxidase Deficiency, Isolated
Eczema, Fine hair OMIM:272300
Noonan Syndrome 4
Polyhydramnios, Curly hair, Sparse eyebrow, High anterior hairline OMIM:610733
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair OMIM:236200
Cataract, Aberrant Oral Frenula, And Growth Retardation
Curly hair OMIM:115645
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Trichohepatoneurodevelopmental Syndrome
Pruritus, Curly hair, Coarse hair, Synophrys, Hypoplastic nipples, Hypertrichosis, Woolly hair OMIM:618268
Netherton Syndrome
Skin rash, Abnormal hair morphology, Erythroderma, Sparse scalp hair, Dehydration, Sparse and thi... ORPHA:634
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Sparse hair, Absent eyelashes, Absent eyebrow, Hypoplastic nipples, Concave nail, ... OMIM:305100
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair ORPHA:457485
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
X-Linked Dominant Chondrodysplasia Punctata
Abnormality of hair texture, Scarring alopecia of scalp, Abnormal fingernail morphology ORPHA:35173
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Pili canaliculi, Uncombable hair OMIM:191482
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Trichohepatoenteric Syndrome 1
Polyhydramnios, Sparse hair, Curly hair, Brittle hair, Woolly hair, Trichorrhexis nodosa, Fine hair OMIM:222470
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Pruritus, Atopic dermatitis, Chronic mucocutaneous candidiasis, Alopecia, Eczema, Recurrent skin ... OMIM:618282
Hidrotic Ectodermal Dysplasia
Onycholysis, Sparse hair, Sparse eyelashes, Hyperconvex nail, Sparse axillary hair, Abnormality o... ORPHA:189
Craniolenticulosutural Dysplasia
Sparse hair, Brittle hair, Coarse hair ORPHA:50814
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair OMIM:619184
Acrogeria
Fine hair ORPHA:2500
Cardiofaciocutaneous Syndrome
Sparse hair, Lymphedema, Abnormal eyelash morphology, Slow-growing hair, Sparse or absent eyelash... ORPHA:1340
Cerebellofaciodental Syndrome
Fine hair, Sparse and thin eyebrow, Sparse hair OMIM:616202
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Weaver Syndrome
Hypoplastic toenails, Deep-set nails, Thin nail, Fine hair, Abnormal fingernail morphology ORPHA:3447
Spinocerebellar Ataxia With Dysmorphism
Coarse hair OMIM:271270
Trichothiodystrophy
Ridged nail, Tiger tail banding, Sparse scalp hair, Alopecia of scalp, Congenital exfoliative ery... ORPHA:33364
Darier Disease
Pruritus, Abnormality of the nail, Subungual hyperkeratotic fragments, Abnormal hair morphology ORPHA:218
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair OMIM:124000
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Long eyelashes, High anterior hairline, Fine hair ORPHA:231137
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Fine hair, Brittle hair, Sparse hair OMIM:618891
Olmsted Syndrome 1
Pruritus, Sparse hair, Nail dysplasia, Subungual hyperkeratosis, Alopecia universalis, Nail dystr... OMIM:614594
Giant Axonal Neuropathy
Pili canaliculi, Woolly hair ORPHA:643
Hereditary Mucoepithelial Dysplasia
Fine hair, Sparse hair, Alopecia ORPHA:1839
Craniofrontonasal Dysplasia
Widow's peak, Ridged fingernail, Abnormality of hair texture, Woolly hair, Low posterior hairline ORPHA:1520
Oculodentodigital Dysplasia
Abnormality of the nail, Sparse hair, Curly hair, Slow-growing hair, Brittle hair, Fine hair, Abn... ORPHA:2710
Mucopolysaccharidosis, Type Iiia
Hirsutism, Coarse hair, Synophrys OMIM:252900
Noonan Syndrome 10
Increased nuchal translucency, Curly hair, Sparse eyebrow, Pleural effusion OMIM:616564
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Polyhydramnios, Sparse hair, Curly hair, Long eyelashes, Sparse scalp hair, Loose anagen hair, Ec... OMIM:607721
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Rodrigues Blindness
Fine hair, Sparse hair OMIM:268320
Noonan Syndrome 2
Polyhydramnios, Sparse eyebrow, Curly hair, Increased nuchal translucency, Low posterior hairline OMIM:605275
Cardiofaciocutaneous Syndrome 1
Polyhydramnios, Atopic dermatitis, Sparse hair, Absent eyelashes, Curly hair, Absent eyebrow, Slo... OMIM:115150
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Sparse hair, Absent pubic hair, Absent axillary hair, Hypoplastic nipples, Distichiasis, Fine hai... OMIM:211370
Amelo-Onycho-Hypohidrotic Syndrome
Hypoplastic toenails, Onycholysis, Fine hair, Abnormal fingernail morphology ORPHA:1028
Odontoonychodermal Dysplasia
Dry hair, Sparse hair, Anonychia, Nail dysplasia, Sparse scalp hair, Sparse and thin eyebrow, Dys... OMIM:257980
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thick eyebrow, Fine hair OMIM:614800
Syndromic Diarrhea
Hypopigmentation of hair, Uncombable hair, Brittle hair, Woolly hair, Trichorrhexis nodosa ORPHA:84064
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal hair morphology, Uncombable hair, Aplasia/Hypoplasia of the eyebrow, Slow-growing hair ORPHA:3082
Mucopolysaccharidosis, Type Iiib
Hirsutism, Coarse hair, Synophrys OMIM:252920
Distal Trisomy 6P
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity ORPHA:1745
Congenital Non-Bullous Ichthyosiform Erythroderma
Pruritus, Abnormality of the nail, Erythroderma, Alopecia ORPHA:79394
2Q32Q33 Microdeletion Syndrome
Fine hair, Sparse hair ORPHA:251019
Chand Syndrome
Nail dysplasia, Curly hair ORPHA:1401
Craniolenticulosutural Dysplasia
Sparse hair, Brittle hair, Coarse hair OMIM:607812
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, Sparse hair, Curly hair, High anterior hairline, Slow-growing hair, Low po... OMIM:617506
Hall-Riggs Syndrome
Coarse hair, Thick hair, Slow-growing hair ORPHA:2107
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Oligohydramnios, Fine hair, Alopecia ORPHA:228390
Adult Syndrome
Nail pits, Abnormality of the nail, Absent nipple, Breast hypoplasia, Fingernail dysplasia, Hypop... ORPHA:978
Fetal Hydantoin Syndrome
Low posterior hairline, Coarse hair, Hypoplastic fingernail ORPHA:1912
Mucopolysaccharidosis, Type Iiic
Hirsutism, Coarse hair, Synophrys OMIM:252930
Lichen Planopilaris
Pruritus, Onycholysis, Alopecia, Abnormal fingernail morphology ORPHA:525
Tonne-Kalscheuer Syndrome
Small nail, Fine hair OMIM:300978
Mucopolysaccharidosis, Type Iiid
Thick eyebrow, Hirsutism, Coarse hair, Synophrys OMIM:252940
Orofaciodigital Syndrome Type 1
Sparse hair, Brittle hair, Coarse hair, Alopecia ORPHA:2750
Cutis Laxa, Autosomal Recessive, Type Iiib
Fine hair, Sparse hair OMIM:614438
Mucoepithelial Dysplasia, Hereditary
Coarse hair, Nail dysplasia, Chronic monilial nail infection, Alopecia, Chronic mucocutaneous can... OMIM:158310
Rapp-Hodgkin Syndrome
Decreased number of sweat glands, Small nail, Sparse hair, Pili canaliculi, Progressive alopecia,... OMIM:129400
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
Chondrodysplasia Punctata, Autosomal Dominant
Coarse hair, Sparse hair OMIM:118650
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Fine hair, Sparse hair OMIM:616817
Costello Syndrome
Polyhydramnios, Hypoplastic toenails, Abnormal hair morphology, Deep-set nails, Concave nail, Woo... ORPHA:3071
Cerebrofaciothoracic Dysplasia
Polyhydramnios, Coarse hair, Synophrys, Thick eyebrow, Abnormal hair pattern, Low posterior hairline ORPHA:1394
Ectodermal Dysplasia-Blindness Syndrome
Fine hair, Sparse hair, Abnormal fingernail morphology ORPHA:1806
19Q13.11 Microdeletion Syndrome
Sparse hair, Nail dysplasia, Sparse lateral eyebrow, Sparse or absent eyelashes, Supernumerary ni... ORPHA:217346
Revesz Syndrome
Nail pits, Sparse hair, Ridged fingernail, Fine hair, Nail dystrophy OMIM:268130
Gorlin-Chaudhry-Moss Syndrome
Generalized hirsutism, Low anterior hairline, Coarse hair ORPHA:2095
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Hypoplastic toenails, Thick hair, Curly hair, Long eyelashes, Synophrys, T... ORPHA:444077
Intellectual Disability, Buenos-Aires Type
Fine hair, Hyperconvex thumb nails, Abnormal fingernail morphology ORPHA:3079
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Sparse hair, Nail dysplasia, Ascites, Aplasia/Hypoplasia of the eyebrow, Fine hair OMIM:614091
Cartilage-Hair Hypoplasia
Sparse hair, Sparse facial hair, Fair hair, Sparse and thin eyebrow, Fine hair, Sparse eyelashes OMIM:250250
Trichorhinophalangeal Syndrome, Type I
Sparse hair, Leukonychia, Slow-growing hair, Concave nail, Thin nail, Sparse lateral eyebrow, Thi... OMIM:190350
Bullous Lichen Planus
Pruritus, Breast aplasia ORPHA:33408
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis, Abnormality of hair texture ORPHA:88618
Sener Syndrome
Polyhydramnios, Eczema, Coarse hair OMIM:606156
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Fine hair, Low anterior hairline, Sparse hair, Synophrys ORPHA:391408
Renpenning Syndrome 1
Sparse lateral eyebrow, Brittle hair, Sparse hair OMIM:309500
Focal Dermal Hypoplasia
Absent toenail, Sparse hair, Absent fingernail, Nail dysplasia, Hypoplastic nipples, Brittle hair... OMIM:305600
Incontinentia Pigmenti
Nail pits, Sparse hair, Breast hypoplasia, Ridged nail, Coarse hair, Breast aplasia, Nail dysplas... OMIM:308300
Costello Syndrome
Polyhydramnios, Sparse hair, Deep-set nails, Curly hair, Concave nail, Thin nail, Fragile nails OMIM:218040
Dyskeratosis Congenita, Autosomal Dominant 3
Nail dysplasia, Alopecia, Premature graying of hair, Fine hair OMIM:613990
Zttk Syndrome
Curly hair, Sparse eyebrow, Broad eyebrow OMIM:617140
Multiple Sulfatase Deficiency
Thick eyebrow, Coarse hair ORPHA:585
Acrofacial Dysostosis, Catania Type
Abnormal hair pattern, Coarse hair ORPHA:1786
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Polyhydramnios, Aplastic/hypoplastic toenail, Aplasia/Hypoplasia of the eyebrow, Supernumerary ni... ORPHA:1812
Ogden Syndrome
Fine hair, Aplasia/Hypoplasia of the eyebrow ORPHA:276432
Schimke Immunoosseous Dysplasia
Fine hair, Coarse hair OMIM:242900
Kid Syndrome
Hypoplastic toenails, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Recurrent bacterial skin in... ORPHA:477
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair ORPHA:935
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Nail dysplasia, Coarse hair OMIM:612394
Popov-Chang syndrome
Coarse hair OMIM:618428
Scalp-Ear-Nipple Syndrome
Abnormality of the nail, Sparse hair, Abnormal hair morphology, Palpebral edema, Breast aplasia, ... OMIM:181270
Cranioectodermal Dysplasia 3
Broad nail, Short nail, Sparse hair, Fine hair OMIM:614099
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Low anterior hairline, Dry hair OMIM:618569
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse hair, Hyperconvex nail, Coarse hair, Hyperconvex fingernails, Sparse and thin eyebrow, Dys... ORPHA:1071
Mucopolysaccharidosis-Plus Syndrome
Low anterior hairline, Hirsutism, Coarse hair, Synophrys, Long eyelashes, Low posterior hairline OMIM:617303
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair ORPHA:363686
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormality of hair texture ORPHA:79351
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Polyhydramnios, Sparse hair, Lymphedema, Chylothorax, Fine hair OMIM:613563
Hallermann-Streiff Syndrome
Sparse hair, Sparse and thin eyebrow, Alopecia, Abnormality of hair texture, Sparse body hair, Sp... ORPHA:2108
Genitopatellar Syndrome
Sparse scalp hair, Fine hair ORPHA:85201
Oculodentodigital Dysplasia, Autosomal Recessive
Fine hair, Sparse eyelashes OMIM:257850
Trisomy 20P
Low anterior hairline, Highly arched eyebrow, Thick hair, Coarse hair, Thick eyebrow, Low posteri... ORPHA:261318
Koolen-De Vries Syndrome
Eczema, Abnormality of hair texture, Fair hair OMIM:610443
Autosomal Recessive Faciodigitogenital Syndrome
Widow's peak, Coarse hair, Hypopigmentation of hair, Dry hair ORPHA:1974
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Coarse hair, Thick hair ORPHA:357074
Oculodentodigital Dysplasia
Sparse hair, Dry hair, Slow-growing hair, Fine hair, Fragile nails OMIM:164200
2P15P16.1 Microdeletion Syndrome
Polyhydramnios, Long eyelashes, Sparse and thin eyebrow, Supernumerary nipple, Fine hair ORPHA:261349
Lateral Meningocele Syndrome
Coarse hair OMIM:130720
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hypoplastic nipples, Curly hair, Hypertrichosis ORPHA:480880
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Fine hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2637
Poems Syndrome
Pleural effusion, Pericardial effusion, Leukonychia, Hypertrichosis, Ascites, Edema, Abnormality ... ORPHA:2905
Eec Syndrome
Nail pits, Coarse hair, Slow-growing hair, Xerostomia, Thick eyebrow, Sparse and thin eyebrow, Fi... ORPHA:1896
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Broad lateral eyebrow, Sparse eyebrow ORPHA:500150
Weaver Syndrome
Fine hair, Deep-set nails, Thin nail, Sparse hair OMIM:277590
Hallermann-Streiff Syndrome
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Fine hair, Sparse eyelashes OMIM:234100
Woodhouse-Sakati Syndrome
Fine hair, Sparse hair, Alopecia OMIM:241080
Adrenomyeloneuropathy
Frontal balding, Fine hair ORPHA:139399
Ogden Syndrome
Long eyelashes, Sparse and thin eyebrow, Fine hair OMIM:300855
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Fine hair, Sparse hair ORPHA:251028
Ablepharon Macrostomia Syndrome
Sparse hair, Absent eyelashes, Breast hypoplasia, Absent eyebrow, Abnormal hair pattern, Fine hair ORPHA:920
Noonan Syndrome
Lymphedema, Low posterior hairline, Coarse hair, Abnormal hair quantity ORPHA:648
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Onycholysis, Sparse scalp hair, Sparse and thin eyebrow, Fine hair, Nail dystrophy, Sparse eyelashes OMIM:614748
Dubowitz Syndrome
Low anterior hairline, Hypoplastic toenails, Sparse scalp hair, Sparse lateral eyebrow, Eczema, F... ORPHA:235
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Hypoplastic nipples, Sparse hair, Fine hair OMIM:280000
Cerebellar-Facial-Dental Syndrome
Fine hair, Sparse eyebrow, Sparse hair ORPHA:444072
Mucolipidosis Type Ii
Fine hair, White hair, Dry hair, Oligohydramnios ORPHA:576
Opitz-Kaveggia Syndrome
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:305450
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypoplastic sweat glands, Thick eyebrow, Synophrys, Abnormality of hair texture ORPHA:73223
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pruritus, Seborrheic dermatitis, Superficial dermal perivascular inflammatory infiltrate, Coarse ... ORPHA:83617
Lysinuric Protein Intolerance
Fine hair, Sparse hair OMIM:222700
Menkes Disease
Hypopigmentation of hair, Woolly hair, Sparse hair ORPHA:565
Cranioectodermal Dysplasia 1
Sparse hair, Slow-growing hair, Thin nail, Short nail, Fine hair OMIM:218330
Chime Syndrome
Fine hair, Sparse hair ORPHA:3474
Distal Monosomy 12Q
Small nail, Fine hair, Late onset atopic dermatitis ORPHA:96149
Mucopolysaccharidosis Type 3
Thick hair, Hirsutism, Coarse hair, Synophrys, Generalized hirsutism ORPHA:581
Occipital Horn Syndrome
Coarse hair OMIM:304150
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture ORPHA:667
Melnick-Needles Syndrome
Frontal hirsutism, Coarse hair OMIM:309350
Hajdu-Cheney Syndrome
Low anterior hairline, Coarse hair, Synophrys, Thick eyebrow, Generalized hirsutism, Abnormal fin... ORPHA:955
Cockayne Syndrome B
Sparse hair, Dry hair, Abnormal hair morphology OMIM:133540
Myhre Syndrome
Fine hair, Thick eyebrow, Sparse hair, Pericardial effusion OMIM:139210
Coffin-Lowry Syndrome
Highly arched eyebrow, Abnormal hair morphology, Coarse hair, Thick eyebrow, Hyperconvex fingernails OMIM:303600
Fontaine Progeroid Syndrome
Low anterior hairline, Small nail, Absent nipple, Anonychia, Oligohydramnios, Coarse hair, Synoph... OMIM:612289
Cockayne Syndrome A
Sparse hair, Dry hair OMIM:216400
Cockayne Syndrome Type 3
Dry hair, Premature graying of hair ORPHA:90324
Occipital Horn Syndrome
Coarse hair, Thick hair ORPHA:198
Witteveen-Kolk Syndrome
Polyhydramnios, High anterior hairline, Fine hair, Medial flaring of the eyebrow OMIM:613406
Cockayne Syndrome
Fine hair, Malar rash, Dry hair ORPHA:191
Coffin-Siris Syndrome 1
Dry hair, Anonychia, Hypoplastic fifth fingernail, Long eyelashes, Facial hypertrichosis, Lumbosa... OMIM:135900
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Dehydration, Fine hair, Joint swelling ORPHA:534
Vascular Ehlers-Danlos Syndrome
Abnormal eyelash morphology, Abnormality of hair texture, Alopecia, Aplasia/Hypoplasia of the eye... ORPHA:286
Alström Syndrome
Frontal balding, Hirsutism, Fine hair ORPHA:64

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 Tgm3

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 Tgm3.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020)