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

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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
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 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
cranium
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
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 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
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 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)

Associated Images

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

Adult LacZ

LacZ Images Wholemount

183 Images

Embryo LacZ

LacZ images wholemount

18 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 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
Uncombable hair, Pili canaliculi OMIM:617251
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White 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
Curly hair, Uncombable hair, Pili canaliculi OMIM:617252
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair 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
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Sparse scalp hair, Curly hair, Sparse hair OMIM:616760
Pili Gemini
Abnormal hair laboratory examination, Hair shafts flattened at irregular intervals and twisted th... ORPHA:79492
Hypotrichosis 13
Sparse hair, Sparse eyebrow, Woolly 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
Uncombable hair, Pili canaliculi OMIM:617251
Dissecting Cellulitis Of The Scalp
Abnormal hair morphology, Pruritus, Recurrent skin infections, Edema ORPHA:345
Hypotrichosis 6
Brittle hair, Pruritus, Pili torti, Sparse eyebrow, Sparse eyelashes, Sparse hair OMIM:607903
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Coarse hair, Pili torti, Sparse eyebrow, Sparse scalp hair, Sparse body hair, Trich... ORPHA:3361
Ectodermal Dysplasia 4, Hair/Nail Type
Brittle hair, Temporal hypotrichosis, Pili torti, Absent eyelashes, Congenital onychodystrophy, S... OMIM:602032
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Witkop Syndrome
Small nail, Fine hair, Nail pits, Sparse hair, Concave nail, Ridged nail OMIM:189500
Hypotrichosis 7
Sparse hair, Sparse eyebrow, Woolly hair, Sparse eyelashes OMIM:604379
Pili Torti
Abnormality of the nail, Brittle hair, Pili torti, Abnormality of hair texture, Alopecia, Abnorma... ORPHA:2889
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Fine hair, Slow-grow... ORPHA:170
Occipital Hair, White Lock Of
Abnormal hair morphology, White hair OMIM:310900
Monilethrix
Brittle hair, Nail dysplasia, Nail dystrophy, Abnormality of hair texture, Alopecia, Sparse hair OMIM:158000
Peeling Skin Syndrome 1
Abnormality of hair texture, Brittle hair, Pruritus, Onycholysis OMIM:270300
Ectodermal Dysplasia 7, Hair/Nail Type
Brittle hair, Sparse eyebrow, Dystrophic toenail, Onycholysis, Sparse eyelashes, Dystrophic finge... OMIM:614929
Woolly Hair, Autosomal Dominant
Coarse hair, Woolly hair, Abnormal hair morphology, Slow-growing hair, Dry hair OMIM:194300
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Coarse hair, Sparse eyebrow, Sparse eyelashes, Sparse hair OMIM:234030
Crandall Syndrome
Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair, Alopecia ORPHA:202
Monilethrix
Patchy alopecia, Brittle hair, Abnormality of the nail, Abnormal eyelash morphology, Fine hair, S... ORPHA:573
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Pili ... ORPHA:2891
Trichodysplasia-Xeroderma
Brittle hair, Coarse hair, Pili torti, Sparse eyebrow, Alopecia, Slow-growing hair, Sparse pubic ... OMIM:190360
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Tiger tail banding OMIM:618546
Trichodental Dysplasia
Sparse hair, Brittle hair, Fine hair, Slow-growing hair OMIM:601453
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Spar... ORPHA:189
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Pili Torti-Onychodysplasia Syndrome
Brittle hair, Absent eyelashes, Congenital onychodystrophy, Sparse body hair, Absent eyebrow, Nai... ORPHA:2890
Dwarfism, Familial, With Muscle Spasms
Fine hair, Brittle scalp hair, Sparse scalp hair OMIM:600771
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
Angioma Serpiginosum, X-Linked
Sparse hair, Fine hair, Nail dystrophy OMIM:300652
Marie Unna Hereditary Hypotrichosis
Coarse hair, Aplasia/Hypoplasia of the eyebrow, Alopecia, Sparse or absent eyelashes, Sparse scal... ORPHA:444
Pilodental Dysplasia With Refractive Errors
Abnormality of the nail, Brittle hair, Brittle scalp hair, Sparse scalp hair OMIM:262020
Pili Torti, Early-Onset
Brittle hair, Coarse hair, Pili torti, Hair shafts flattened at irregular intervals and twisted t... OMIM:261900
Hypotrichosis With Juvenile Macular Degeneration
Brittle hair, Fine hair, Pili torti, Sparse scalp hair ORPHA:1573
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Sabinas Brittle Hair Syndrome
Brittle hair, Nail dysplasia, Nail dystrophy, Sparse hair, Dry hair OMIM:211390
Ichthyosis, Congenital, Autosomal Recessive 11
Brittle hair, Pili torti, Sparse eyebrow, Curly hair, Sparse hair OMIM:602400
Palmoplantar Keratoderma And Congenital Alopecia 1
Brittle hair, Sparse eyebrow, Nail dysplasia, Alopecia, Leukonychia, Sparse hair OMIM:104100
Clouston Syndrome
Small nail, Absent pubic hair, Brittle hair, Sparse eyebrow, Nail dysplasia, Fine hair, Slow-grow... OMIM:129500
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Alopecia, Sparse pubic hair, Sparse axillary hair, Sparse scalp hair ORPHA:505
Bjornstad Syndrome
Brittle hair, Coarse hair, Pili torti, Alopecia, Hair shafts flattened at irregular intervals and... OMIM:262000
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly hair, Woolly scalp hair, Alopecia OMIM:601217
Cardiofaciocutaneous Syndrome 2
Curly hair, Sparse hair, Fine hair, Absent eyebrow OMIM:615278
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyebrow, Nail dysplasia, Abnormality of hair texture, Progressive hypotricho... OMIM:225060
Naxos Disease
Abnormality of hair texture, Curly hair, Woolly hair, Sparse scalp hair ORPHA:34217
Trichohepatoenteric Syndrome 2
Brittle hair, Woolly hair, Sparse hair, Trichorrhexis nodosa, Pili canaliculi, Uncombable hair OMIM:614602
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Hypotrichosis 12
Aplasia/Hypoplasia of the eyebrow, Slow-growing hair, Sparse or absent eyelashes, Sparse hair, Dr... OMIM:615885
Palmoplantar Keratoderma And Woolly Hair
Woolly hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse scalp hair, Leukonychia, ... OMIM:616099
Copper Deficiency, Familial Benign
Curly hair, Early balding, Seborrheic dermatitis OMIM:121270
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Netherton Syndrome
Brittle hair, Angioedema, Sparse eyebrow, Erythroderma, Hypernatremic dehydration, Sparse scalp h... OMIM:256500
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Brittle hair, Coarse hair ORPHA:1883
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Onychogryposis of toenails, Sparse hair, Dry hair, Coarse hair OMIM:164680
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Trichothiodystrophy 6, Nonphotosensitive
Brittle hair, Slow-growing hair, Tiger tail banding OMIM:616943
Carvajal Syndrome
Woolly hair ORPHA:65282
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Brittle hair, Alopecia ORPHA:50812
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Oligohydramnios, Coarse hair, Synophrys OMIM:616351
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Brittle hair, Woolly hair, Nail dysplasia, Trichorrhexis nodosa, Abnormality of hair ... OMIM:234050
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Progeroid Syndrome, Petty Type
Generalized hirsutism, Abnormality of the nail, Brittle hair, Long eyelashes in irregular rows, A... ORPHA:2963
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Abnormal toenail morphology, Fine hair, Alopecia, Abnormal fingernail m... ORPHA:248
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the nail, Thin toenail, Hypoplastic toenails, Fine hair, Ridged fingernail, Fragil... ORPHA:2228
Trichothiodystrophy 5, Nonphotosensitive
Sparse hair, Brittle hair, Slow-growing hair, Tiger tail banding OMIM:300953
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Bazex Syndrome
Coarse hair, Pili torti, Acne inversa, Trichorrhexis nodosa, Eczema, Atopic dermatitis, Trichoepi... OMIM:301845
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Brittle hair, Nail dystrophy, Coarse hair, Alopecia ORPHA:75389
Noonan Syndrome 6
Long eyebrows, Polyhydramnios, Curly hair, Sparse hair, Edema, Low posterior hairline OMIM:613224
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Pruritus, Nail dystrophy ORPHA:46487
Leopard Syndrome 2
Curly hair OMIM:611554
Hypotrichosis Simplex Of The Scalp
Pruritus, Fine hair, Atopic dermatitis, Slow-growing scalp hair, Sparse scalp hair, Alopecia of s... ORPHA:90368
Menkes Disease
Sparse hair, Brittle hair, Alopecia OMIM:309400
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Ectodermal Dysplasia-Syndactyly Syndrome 1
Small nail, Patchy alopecia, Coarse hair, Pili torti, Hypoplastic toenails, Sparse eyebrow, Alope... OMIM:613573
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Abnormal toenail morphology, Fine hair, Ungual fibroma, Sparse or absent ey... ORPHA:1433
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Nail dysplasia, Fine hair, Slow-growing hair, Sparse eyelashes, Sparse hair OMIM:129490
Noonan Syndrome 8
Eczema, Curly hair, Polyhydramnios, Pleural effusion OMIM:615355
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Long eyelashes, Thick eyebrow, Highly arched eyebrow, Synophrys OMIM:617412
Onychotrichodysplasia And Neutropenia
Hypoplastic fingernail, Sparse pubic hair, Trichorrhexis nodosa, Curly eyelashes, Short eyelashes... OMIM:258360
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Cardiofaciocutaneous Syndrome 4
Sparse hair, Absent eyebrow, Polyhydramnios, Sparse eyelashes, Curly hair, Alopecia of scalp OMIM:615280
Cardiofaciocutaneous Syndrome 3
Curly hair OMIM:615279
Bazex-Dupré-Christol Syndrome
Coarse hair, Pili torti, Sparse eyebrow, Trichorrhexis nodosa, Sparse or absent eyelashes, Sparse... ORPHA:113
Pachyonychia Congenita 2
Nail dysplasia, Sparse eyebrow, Nail dystrophy, Sparse scalp hair, Dry hair, Subungual hyperkerat... OMIM:167210
Noonan Syndrome 5
Small nail, Sparse eyebrow, Fine hair, Polyhydramnios, Curly hair OMIM:611553
Trichothiodystrophy 1, Photosensitive
Small nail, Brittle hair, Pili torti, Fine hair, Trichorrhexis nodosa, Nail dystrophy, Erythroder... OMIM:601675
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Multiple rows of eyelashes, Thick eyebrow, Nail dysplasia, Curly eyelashes, Facial hirsutism, Cur... ORPHA:163654
Noonan Syndrome 9
Curly hair, Sparse eyebrow OMIM:616559
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Coarse hair OMIM:616390
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Polyhydramnios, Brittle hair, Sparse eyebrow OMIM:618810
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Dystrophic toenail, Sparse eyebrow, Fine hair, Alopecia, Dystrophic fingernails, Sparse scalp hair ORPHA:1882
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
Leopard Syndrome 3
Curly hair, Low posterior hairline OMIM:613707
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Nail dystrophy OMIM:131850
Erythrokeratodermia Variabilis Et Progressiva 7
Dystrophic toenail, Woolly hair OMIM:619209
Trichodermodysplasia-Dental Alterations Syndrome
Brittle hair, Sparse lateral eyebrow, Aplasia/Hypoplasia of the eyebrow, Fine hair, Sparse or abs... ORPHA:3353
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Edema, Woolly hair OMIM:605676
Cutis Laxa, Autosomal Recessive, Type Iia
Abnormality of hair texture, Brittle hair, Coarse hair OMIM:219200
Trichothiodystrophy 3, Photosensitive
Brittle hair, Tiger tail banding, Trichorrhexis nodosa OMIM:616395
Amaurosis-Hypertrichosis Syndrome
Thick eyebrow, Abnormal eyelash morphology, Coarse hair, Synophrys ORPHA:1021
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia OMIM:608612
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Woolly hair, Nail dystrophy, Fragile nails, Leukonychia OMIM:615821
Skin Fragility-Woolly Hair Syndrome
Woolly hair, Sparse eyebrow, Nail dysplasia, Nail dystrophy, Sparse eyelashes, Alopecia OMIM:607655
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Trichothiodystrophy 8, Nonphotosensitive
Woolly hair, Sparse eyebrow, Trichorrhexis nodosa, Eczema, Sparse hair OMIM:619691
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
Abnormality of hair texture, Nail dysplasia, Nail dystrophy OMIM:601957
Naxos Disease
Woolly hair, Sparse eyebrow, Sparse body hair, Onycholysis, Nail dystrophy, Curly hair OMIM:601214
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair OMIM:236200
Noonan Syndrome 7
Curly hair, Low posterior hairline OMIM:613706
Argininosuccinic Aciduria
Cerebral edema, Brittle hair, Dry hair, Trichorrhexis nodosa OMIM:207900
Growth Hormone Insensitivity Syndrome
Abnormality of the nail, Fine hair ORPHA:181393
Trichohepatoneurodevelopmental Syndrome
Pruritus, Woolly hair, Coarse hair, Hypoplastic nipples, Synophrys, Hypertrichosis, Curly hair OMIM:618268
Noonan Syndrome 4
Curly hair, Polyhydramnios, Sparse eyebrow, High anterior hairline OMIM:610733
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Netherton Syndrome
Abnormal hair morphology, Sparse eyebrow, Fine hair, Trichorrhexis nodosa, Eczema, Erythroderma, ... ORPHA:634
Cataract, Aberrant Oral Frenula, And Growth Retardation
Curly hair OMIM:115645
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Brittle hair, Absent nipple, Absent eyelashes, Aplasia/Hypoplastia of the eccrine sweat glands, S... OMIM:305100
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair ORPHA:457485
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Uncombable hair, Pili canaliculi OMIM:191482
Noonan Syndrome 14
Sparse eyebrow, Polyhydramnios, Curly hair, Sparse hair, Low posterior hairline OMIM:619745
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Pruritus, Recurrent skin infections, Eczema, Atopic dermatitis, Alopecia, Chronic mucocutaneous c... OMIM:618282
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Fine hair, Sparse scalp hair ORPHA:2324
Sulfite Oxidase Deficiency, Isolated
Eczema, Fine hair OMIM:272300
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair OMIM:300986
Trichohepatoenteric Syndrome 1
Brittle hair, Woolly hair, Fine hair, Trichorrhexis nodosa, Polyhydramnios, Curly hair, Sparse hair OMIM:222470
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
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Cardiofaciocutaneous Syndrome
Brittle hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Fine hair, Slow-gro... ORPHA:1340
Acrogeria
Fine hair ORPHA:2500
Spinocerebellar Ataxia With Dysmorphism
Coarse hair OMIM:271270
Trichothiodystrophy
Brittle hair, Aplasia/Hypoplasia of the nails, Congenital exfoliative erythroderma, Eczema, Split... ORPHA:33364
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair OMIM:124000
Weaver Syndrome
Hypoplastic toenails, Fine hair, Thin nail, Deep-set nails, Abnormal fingernail morphology ORPHA:3447
Cerebellofaciodental Syndrome
Sparse hair, Sparse eyebrow, Fine hair OMIM:616202
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Sparse hair, Brittle hair, Fine hair OMIM:618891
Darier Disease
Abnormal hair morphology, Subungual hyperkeratotic fragments, Abnormality of the nail, Pruritus ORPHA:218
Giant Axonal Neuropathy
Woolly hair, Pili canaliculi ORPHA:643
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Fine hair, High anterior hairline, Long eyelashes ORPHA:231137
Olmsted Syndrome 1
Pruritus, Nail dysplasia, Nail dystrophy, Alopecia universalis, Sparse hair, Subungual hyperkerat... OMIM:614594
Craniofrontonasal Dysplasia
Widow's peak, Woolly hair, Abnormality of hair texture, Ridged fingernail, Low posterior hairline ORPHA:1520
Hereditary Mucoepithelial Dysplasia
Sparse hair, Fine hair, Alopecia ORPHA:1839
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Long eyelashes, Loose anagen hair, Eczema, Polyhydramnios, Sparse scalp hair, Curly hair, Sparse ... OMIM:607721
Oculodentodigital Dysplasia
Abnormality of the nail, Brittle hair, Fine hair, Slow-growing hair, Curly hair, Sparse hair, Abn... ORPHA:2710
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Noonan Syndrome 10
Curly hair, Sparse eyebrow, Pleural effusion, Increased nuchal translucency OMIM:616564
Cardiofaciocutaneous Syndrome 1
Absent eyelashes, Slow-growing hair, Absent eyebrow, Polyhydramnios, Atopic dermatitis, Curly hai... OMIM:115150
Noonan Syndrome 2
Sparse eyebrow, Polyhydramnios, Increased nuchal translucency, Curly hair, Low posterior hairline OMIM:605275
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Fine hair, Onycholysis, Hypoplastic toenails ORPHA:1028
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Absent pubic hair, Fine hair, Hypoplastic nipples, Sparse eyelashes, Distichiasis, Absent axillar... OMIM:211370
Odontoonychodermal Dysplasia
Dystrophic toenail, Sparse eyebrow, Fine hair, Sparse body hair, Nail dysplasia, Anonychia, Dystr... OMIM:257980
Craniolenticulosutural Dysplasia
Sparse hair, Brittle hair, Coarse hair OMIM:607812
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Woolly hair, Trichorrhexis nodosa, Uncombable hair ORPHA:84064
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Slow-growing hair, Uncombable hair ORPHA:3082
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thick eyebrow, Fine hair OMIM:614800
Mucopolysaccharidosis, Type Iiib
Hirsutism, Coarse hair, Synophrys OMIM:252920
Chand Syndrome
Curly hair, Nail dysplasia ORPHA:1401
Distal Trisomy 6P
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity ORPHA:1745
Mucopolysaccharidosis, Type Iiia
Hirsutism, Coarse hair, Synophrys OMIM:252900
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Coarse hair, Sparse lateral eyebrow, Slow-growing hair, Highly arched eyebrow, Polyhydramnios, Hi... OMIM:617506
Congenital Non-Bullous Ichthyosiform Erythroderma
Erythroderma, Abnormality of the nail, Pruritus, Alopecia ORPHA:79394
2Q32Q33 Microdeletion Syndrome
Sparse hair, Fine hair ORPHA:251019
Hall-Riggs Syndrome
Thick hair, Coarse hair, Slow-growing hair ORPHA:2107
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Oligohydramnios, Fine hair, Alopecia ORPHA:228390
Mucopolysaccharidosis, Type Iiic
Hirsutism, Coarse hair, Synophrys OMIM:252930
X-Linked Dominant Chondrodysplasia Punctata
Patchy alopecia, Abnormality of the nail, Coarse hair, Scarring alopecia of scalp, Abnormal hair ... ORPHA:35173
Fetal Hydantoin Syndrome
Hypoplastic fingernail, Coarse hair, Low posterior hairline ORPHA:1912
Adult Syndrome
Abnormality of the nail, Absent nipple, Sparse scalp hair, Fine hair, Nail pits, Hypoplastic nipp... ORPHA:978
Tonne-Kalscheuer Syndrome
Small nail, Fine hair OMIM:300978
Lichen Planopilaris
Abnormal fingernail morphology, Pruritus, Onycholysis, Alopecia ORPHA:525
Marshall-Smith Syndrome
Brittle hair, Thick eyebrow, Highly arched eyebrow, Synophrys, Hypertrichosis, Sparse hair OMIM:602535
Mucoepithelial Dysplasia, Hereditary
Coarse hair, Nail dysplasia, Chronic monilial nail infection, Nail dystrophy, Alopecia, Chronic m... OMIM:158310
Orofaciodigital Syndrome Type 1
Sparse hair, Brittle hair, Coarse hair, Alopecia ORPHA:2750
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Fine hair OMIM:614438
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Woolly hair, Highly arched eyebrow, Broad eyebrow, Low anterior hairline, Hirsutism OMIM:619244
Rapp-Hodgkin Syndrome
Small nail, Fine hair, Decreased number of sweat glands, Onychogryposis, Pili canaliculi, Sparse ... OMIM:129400
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Fine hair OMIM:616817
Costello Syndrome
Woolly hair, Hypoplastic toenails, Abnormal hair morphology, Polyhydramnios, Deep-set nails, Abno... ORPHA:3071
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair OMIM:118650
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Abnormal fingernail morphology, Fine hair ORPHA:1806
Cerebrofaciothoracic Dysplasia
Coarse hair, Thick eyebrow, Abnormal hair pattern, Polyhydramnios, Synophrys, Low posterior hairline ORPHA:1394
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Supernumerary nipple, Nail dysplasia, Fine hair, Sparse or absent eyelash... ORPHA:217346
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Long eyelashes, Hypoplastic toenails, Thick eyebrow, Abnormal toenail morphology, Highly arched e... ORPHA:444077
Revesz Syndrome
Fine hair, Nail pits, Nail dystrophy, Ridged fingernail, Sparse hair OMIM:268130
Gorlin-Chaudhry-Moss Syndrome
Generalized hirsutism, Low anterior hairline, Coarse hair ORPHA:2095
Cartilage-Hair Hypoplasia
Fair hair, Sparse eyebrow, Fine hair, Sparse eyelashes, Sparse facial hair, Sparse hair OMIM:250250
Intellectual Disability, Buenos-Aires Type
Hyperconvex thumb nails, Abnormal fingernail morphology, Fine hair ORPHA:3079
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair, Ascites, Sparse hair OMIM:614091
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture, Hydrops fetalis ORPHA:88618
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Fine hair, Synophrys OMIM:619428
Bullous Lichen Planus
Pruritus, Breast aplasia ORPHA:33408
Trichorhinophalangeal Syndrome, Type I
Sparse lateral eyebrow, Thin eyebrow, Fine hair, Slow-growing hair, Thin nail, Leukonychia, Spars... OMIM:190350
Galloway-Mowat Syndrome 9
Coarse hair OMIM:619603
Focal Dermal Hypoplasia
Patchy alopecia, Brittle hair, Absent fingernail, Supernumerary nipple, Nail dysplasia, Nail dyst... OMIM:305600
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Sparse hair, Low anterior hairline, Fine hair, Synophrys ORPHA:391408
Sener Syndrome
Eczema, Polyhydramnios, Coarse hair OMIM:606156
Renpenning Syndrome 1
Sparse hair, Brittle hair, Sparse lateral eyebrow OMIM:309500
Costello Syndrome
Thin nail, Polyhydramnios, Deep-set nails, Fragile nails, Curly hair, Sparse hair, Concave nail OMIM:218040
Incontinentia Pigmenti
Atrophic, patchy alopecia, Coarse hair, Supernumerary nipple, Nail dysplasia, Fine hair, Nail pit... OMIM:308300
Multiple Sulfatase Deficiency
Thick eyebrow, Coarse hair ORPHA:585
Zttk Syndrome
Curly hair, Sparse eyebrow, Broad eyebrow OMIM:617140
Dyskeratosis Congenita, Autosomal Dominant 3
Premature graying of hair, Nail dysplasia, Fine hair, Alopecia OMIM:613990
Ogden Syndrome
Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:276432
Acrofacial Dysostosis, Catania Type
Abnormal hair pattern, Coarse hair ORPHA:1786
Schimke Immunoosseous Dysplasia
Fine hair, Coarse hair OMIM:242900
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Supernumerary nipple, Aplasia/Hypoplasia of the eyebrow, Fine hair, Polyhydramnios, Aplastic/hypo... ORPHA:1812
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair ORPHA:363686
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Nail dysplasia, Coarse hair OMIM:612394
Neuroocular Syndrome
Small nail, Brittle hair, Long eyelashes, Thick eyebrow, Highly arched eyebrow, Distichiasis, Syn... OMIM:619539
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair ORPHA:935
Scalp-Ear-Nipple Syndrome
Abnormality of the nail, Abnormal hair morphology, Nail dysplasia, Fine hair, Palpebral edema, Br... OMIM:181270
Popov-Chang syndrome
Coarse hair OMIM:618428
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Coarse hair, Hyperconvex fingernails, Supernumerary nipple, Dystrophic toenail, Sparse eyebrow, S... ORPHA:1071
Cranioectodermal Dysplasia 3
Broad nail, Short nail, Fine hair, Sparse hair OMIM:614099
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Low anterior hairline, Dry hair OMIM:618569
Mucopolysaccharidosis-Plus Syndrome
Coarse hair, Long eyelashes, Low anterior hairline, Synophrys, Hirsutism, Low posterior hairline OMIM:617303
Mucopolysaccharidosis, Type Vii
Thick eyebrow, Hirsutism, Coarse hair, Hydrops fetalis OMIM:253220
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormality of hair texture ORPHA:79351
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Long eyelashes, Oligohydramnios, Thick eyebrow, Thoracic hypertrichosis, Synophrys, Atopic dermat... OMIM:619503
Hallermann-Streiff Syndrome
Sparse eyebrow, Sparse body hair, Abnormality of hair texture, Sparse eyelashes, Alopecia, Sparse... ORPHA:2108
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Chylothorax, Fine hair, Polyhydramnios, Lymphedema, Sparse hair OMIM:613563
Genitopatellar Syndrome
Fine hair, Sparse scalp hair ORPHA:85201
Trisomy 20P
Coarse hair, Thick eyebrow, Highly arched eyebrow, Thick hair, Low anterior hairline, Low posteri... ORPHA:261318
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse eyelashes, Fine hair OMIM:257850
Koolen-De Vries Syndrome
Fair hair, Eczema, Abnormality of hair texture OMIM:610443
Mucopolysaccharidosis, Type Iiid
Coarse hair, Thick eyebrow, Synophrys, Facial hirsutism, Hirsutism OMIM:252940
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Thick hair, Sparse hair, Coarse hair ORPHA:357074
Oculodentodigital Dysplasia
Fine hair, Slow-growing hair, Fragile nails, Sparse hair, Dry hair OMIM:164200
Autosomal Recessive Faciodigitogenital Syndrome
Widow's peak, Hypopigmentation of hair, Dry hair, Coarse hair ORPHA:1974
2P15P16.1 Microdeletion Syndrome
Long eyelashes, Supernumerary nipple, Sparse eyebrow, Fine hair, Polyhydramnios ORPHA:261349
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hypoplastic nipples, Curly hair, Hypertrichosis ORPHA:480880
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Broad lateral eyebrow, Sparse eyebrow ORPHA:500150
Lateral Meningocele Syndrome
Coarse hair OMIM:130720
Weaver Syndrome
Sparse hair, Deep-set nails, Fine hair, Thin nail OMIM:277590
Poems Syndrome
Hypertrichosis, Pleural effusion, Abnormality of skin physiology, Ascites, Leukonychia, Edema, Pe... ORPHA:2905
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:2637
Ogden Syndrome
Sparse eyebrow, Fine hair, Long eyelashes OMIM:300855
Eec Syndrome
Coarse hair, Thick eyebrow, Sparse eyebrow, Fine hair, Slow-growing hair, Nail dystrophy, Nail pi... ORPHA:1896
Adrenomyeloneuropathy
Frontal balding, Fine hair ORPHA:139399
Woodhouse-Sakati Syndrome
Sparse hair, Fine hair, Alopecia OMIM:241080
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Fine hair ORPHA:251028
Noonan Syndrome
Low posterior hairline, Lymphedema, Coarse hair, Abnormal hair quantity ORPHA:648
Ablepharon Macrostomia Syndrome
Absent eyelashes, Abnormal hair pattern, Fine hair, Absent eyebrow, Sparse hair, Breast hypoplasia ORPHA:920
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Hypoplastic nipples, Sparse hair, Fine hair OMIM:280000
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy, Sparse eyelashes, Sparse scalp hair OMIM:614748
Cerebellar-Facial-Dental Syndrome
Sparse hair, Sparse eyebrow, Fine hair ORPHA:444072
Dubowitz Syndrome
Hypoplastic toenails, Sparse lateral eyebrow, Fine hair, Eczema, Low anterior hairline, Sparse sc... ORPHA:235
Mucolipidosis Type Ii
Oligohydramnios, White hair, Dry hair, Fine hair ORPHA:576
Hallermann-Streiff Syndrome
Sparse eyebrow, Fine hair, Sparse eyelashes, Sparse scalp hair, Sparse hair OMIM:234100
Opitz-Kaveggia Syndrome
Sparse hair, Fine hair, Frontal upsweep of hair OMIM:305450
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormality of hair texture, Thick eyebrow, Hypoplastic sweat glands, Synophrys ORPHA:73223
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Coarse hair, Eczema, Seborrhei... ORPHA:83617
Lysinuric Protein Intolerance
Sparse hair, Fine hair OMIM:222700
Cranioectodermal Dysplasia 1
Fine hair, Slow-growing hair, Thin nail, Sparse hair, Short nail OMIM:218330
Menkes Disease
Hypopigmentation of hair, Woolly hair, Sparse hair ORPHA:565
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture ORPHA:667
Mucopolysaccharidosis Type 3
Generalized hirsutism, Coarse hair, Thick hair, Synophrys, Hirsutism ORPHA:581
Chime Syndrome
Sparse hair, Fine hair ORPHA:3474
Distal Monosomy 12Q
Small nail, Late onset atopic dermatitis, Fine hair ORPHA:96149
Orofaciodigital Syndrome I
Sparse hair, Dry hair, Alopecia OMIM:311200
Occipital Horn Syndrome
Coarse hair OMIM:304150
Hajdu-Cheney Syndrome
Generalized hirsutism, Coarse hair, Thick eyebrow, Low anterior hairline, Synophrys, Abnormal fin... ORPHA:955
Melnick-Needles Syndrome
Coarse hair, Frontal hirsutism OMIM:309350
Myhre Syndrome
Thick eyebrow, Sparse hair, Fine hair, Pericardial effusion OMIM:139210
Cockayne Syndrome B
Abnormal hair morphology, Sparse hair, Dry hair OMIM:133540
Coffin-Lowry Syndrome
Coarse hair, Hyperconvex fingernails, Abnormal hair morphology, Thick eyebrow, Highly arched eyebrow OMIM:303600
Fontaine Progeroid Syndrome
Small nail, Hypertrichosis, Coarse hair, Absent nipple, Anonychia, Hypoplastic nipples, Synophrys... OMIM:612289
Cockayne Syndrome Type 3
Premature graying of hair, Dry hair ORPHA:90324
Cockayne Syndrome A
Sparse hair, Dry hair OMIM:216400
Witteveen-Kolk Syndrome
Polyhydramnios, Fine hair, High anterior hairline, Medial flaring of the eyebrow OMIM:613406
Noonan Syndrome 1
Chylothorax, Lymphedema, Woolly hair, Low posterior hairline OMIM:163950
Occipital Horn Syndrome
Thick hair, Coarse hair ORPHA:198
Cockayne Syndrome
Malar rash, Dry hair, Fine hair ORPHA:191
Coffin-Siris Syndrome 1
Hypertrichosis, Long eyelashes, Thick eyebrow, Hypoplastic fifth fingernail, Anonychia, Lumbosacr... OMIM:135900
Oculocerebrorenal Syndrome Of Lowe
Dehydration, Joint swelling, Fine hair, Sparse scalp hair ORPHA:534
Vascular Ehlers-Danlos Syndrome
Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Alop... ORPHA:286
Alström Syndrome
Frontal balding, Fine hair, Hirsutism 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)