Gene Summary

Name:
protease, serine 8 (prostasin)
Synonyms:
CAP1,  2410039E18Rik,  mCAP1,  fr

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
increased grip strength Prss8tm1b(EUCOMM)Hmgu HET Early adult 8.32×10-05
preweaning lethality, complete penetrance Prss8tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased thigmotaxis Prss8tm1b(EUCOMM)Hmgu HET Early adult 5.81×10-05
decreased mean corpuscular hemoglobin concentration Prss8tm1b(EUCOMM)Hmgu HET Early adult 2.79×10-07
cataract Prss8tm1b(EUCOMM)Hmgu HET Early adult 5.23×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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
Brain  Section images heterozygote 0.0% (0 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 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
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
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 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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 Section

15 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Morphology Embryo E12.5

Images

1 Images

Gross Morphology Embryo E9.5

Images

4 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Prss8 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Prss8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pili Gemini
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Ab... ORPHA:79492
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Striate Palmoplantar Keratoderma
Abnormal hair morphology, Abnormality of the nail ORPHA:50942
Keratosis Palmoplantaris Striata Iii
Abnormal hair morphology, Abnormality of the nail OMIM:607654
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Hypotrichosis 1
Sparse body hair, Sparse eyebrow, Sparse axillary hair, Sparse pubic hair, Sparse eyelashes, Spar... OMIM:605389
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
Witkop Syndrome
Small nail, Fine hair, Nail pits, Ridged nail, Concave nail, Sparse hair OMIM:189500
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hypotrichosis 9
Sparse body hair, Sparse scalp hair OMIM:614237
Hypotrichosis Simplex
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse hair ORPHA:55654
Hypotrichosis 4
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes OMIM:146550
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Alopecia universalis, Sparse hair, Absent axillary hair, Spars... OMIM:615059
Hypotrichosis 10
Sparse body hair, Sparse eyelashes, Sparse eyebrow OMIM:614238
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Hypotrichosis 15
Sparse scalp hair OMIM:620177
Hypotrichosis 2
Sparse scalp hair OMIM:146520
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Thin toenail, Sparse hair, Dystrophic toenail OMIM:614928
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse body hair, Alopecia, Hypoplastic toenails, Sparse eyebrow, Abnormal fingernail morphology,... ORPHA:2722
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Trichorrhexis nodosa, Curly hair, Fine hair, Sparse eyelashes, Sparse hair OMIM:616760
Syringocystadenoma Papilliferum
Sparse scalp hair ORPHA:840
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair, Nail dystrophy, Atrichia OMIM:614931
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Pili torti, Sparse or absent eyel... ORPHA:2891
Trichodysplasia-Xeroderma Syndrome
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, ... ORPHA:3361
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair, Dry skin OMIM:617073
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair ORPHA:505
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Aredyld
Generalized hypotrichosis OMIM:207780
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Alopecia Universalis Congenita
Absent eyelashes, Alopecia universalis, Absent pubic hair, Absent eyebrow, Absent axillary hair OMIM:203655
Palmoplantar Keratoderma And Congenital Alopecia 2
Facial erythema, Palmoplantar hyperkeratosis, Alopecia totalis, Nail dystrophy, Nail dysplasia, H... OMIM:212360
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Sparse axillary hair, Sparse pubic hair, Abnormality of the nail, Onychogrypos... ORPHA:1808
Ectodermal Dysplasia 4, Hair/Nail Type
Sparse body hair, Alopecia, Pili torti, Brittle hair, Absent eyelashes, Temporal hypotrichosis, O... OMIM:602032
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Sparse body hair, Alopecia, Dystrophic toenail, Alopecia of scalp, Onychogryposis of toenails OMIM:617294
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Monilethrix
Alopecia, Brittle hair, Nail dysplasia, Abnormality of hair texture, Sparse hair, Nail dystrophy OMIM:158000
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of the nail, Abnorma... ORPHA:2889
Hypertrichosis Lanuginosa Congenita
Double eyebrow, Congenital, generalized hypertrichosis OMIM:145700
Alopecia Areata 2
Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis OMIM:610753
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Hair Defect With Photosensitivity And Mental Retardation
Sparse eyebrow, Brittle hair, Coarse hair, Sparse eyelashes, Sparse hair OMIM:234030
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair, Brittle hair OMIM:617252
Alopecia Areata 1
Trachyonychia, Alopecia universalis, Alopecia totalis, Nail pits, Patchy alopecia OMIM:104000
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Alopecia universalis, Patchy alopecia ORPHA:701
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Marie Unna Hereditary Hypotrichosis
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Coarse hair, Sparse or absent eye... ORPHA:444
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Woolly hair, Nail p... OMIM:278150
Hypertrichosis, Congenital Generalized
Hirsutism, Congenital, generalized hypertrichosis OMIM:307150
Hypotrichosis 7
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Brittle hair, Sparse axillary hair, Abnormal... OMIM:604379
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair ORPHA:401911
Palmoplantar Keratoderma And Woolly Hair
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyelashes OMIM:616099
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Fine hair, Abnormality of the nail, Abnormal eyelash m... ORPHA:573
Ectodermal Dysplasia 5, Hair/Nail Type
Absent toenail, Sparse scalp hair, Dystrophic fingernails OMIM:614927
Dermoodontodysplasia
Nail dysplasia, Dry skin, Trichodysplasia OMIM:125640
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Sparse scalp hair, Small nail, Brittle scalp hair, Sparse axillary hair... ORPHA:189
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis OMIM:617756
Ulerythema Ophryogenesis
Facial erythema, Hyperkeratotic papule, Sparse lateral eyebrow, Follicular hyperkeratosis, Dry skin ORPHA:3406
Crandall Syndrome
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Brittle hair, Fine hair ORPHA:202
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Hypotrichosis 12
Dry hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse or absent eyelashes, Slow-growin... OMIM:615885
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Trichodental Dysplasia
Slow-growing hair, Sparse hair, Fine hair, Brittle hair OMIM:601453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse body hair, Sparse scalp hair, Alopecia universalis, Abnormal eyelash morphology ORPHA:1008
Hypotrichosis 6
Sparse eyebrow, Pili torti, Brittle hair, Sparse eyelashes, Sparse hair OMIM:607903
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal toenail morphology, Abnormal hair m... ORPHA:248
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Sparse hair, Dry skin, Slow-growing hair OMIM:129490
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Congenital alopecia totalis, Alopecia universalis OMIM:104130
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Abnormal toenai... ORPHA:1818
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Carvajal Syndrome
Woolly hair ORPHA:65282
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Hairy Elbows
Elbow hypertrichosis OMIM:139600
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse eyelashes, Sparse hair, Woolly hair OMIM:615896
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse body hair, Sparse scalp hair, Sparse eyelashes, Palmoplantar keratoderma, Sparse hair, Dry... OMIM:618535
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Erythrokeratodermia Variabilis
Alopecia, Weight loss, Abnormality of the nail, Patchy palmoplantar hyperkeratosis, Erythema, Abn... ORPHA:317
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dysplasia, Sparse hair, Nail dystrophy OMIM:211390
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Fine hair, Abnormal fingernail morphology, Abnormal toenail morphology, Ung... ORPHA:1433
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Pili Torti-Onychodysplasia Syndrome
Sparse body hair, Alopecia, Brittle hair, Absent eyelashes, Alopecia universalis, Trichodysplasia... ORPHA:2890
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Woolly Hair, Autosomal Dominant
Dry hair, Abnormal eyebrow morphology, Woolly hair, Abnormal eyelash morphology, Coarse hair, Slo... OMIM:194300
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Widow's peak, Thick eyebrow, Sparse hair OMIM:606242
Schopf-Schulz-Passarge Syndrome
Apocrine hidrocystoma, Small nail, Poroma, Thin nail, Onycholysis, Ridged nail, Narrow nail, Spar... OMIM:224750
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Pruritus OMIM:146750
L-Ferritin Deficiency
Alopecia OMIM:615604
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Palmoplantar erythema, Leukonychia, Brittle hair, Epidermal hyperkerato... OMIM:104100
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Nail dystrophy, Tiger tail banding, Sparse hair OMIM:619692
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Ectodermal Dysplasia 7, Hair/Nail Type
Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Brittle hair, Onycholysis, Abnor... OMIM:614929
Moynahan Syndrome
Alopecia, Hyperkeratosis, Cachexia, Sparse hair ORPHA:2574
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, Coarse hair, Sparse hair, Sp... ORPHA:113
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Dermoodontodysplasia
Sparse body hair, Toenail dysplasia, Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Dr... ORPHA:1660
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Aniridia 3
Cataract OMIM:617142
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic toenails, Fine hair, Abnormality of the nail, Abnormal fingernail morphology, Hypopla... ORPHA:2228
Focal Facial Dermal Dysplasia 3, Setleis Type
Absent lower eyelashes, Distichiasis, Sparse hair, Low anterior hairline OMIM:227260
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Pili Torti, Early-Onset
Dry hair, Pili torti, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and... OMIM:261900
Syndromic X-Linked Intellectual Disability 7
Sparse body hair ORPHA:85274
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Palmoplantar scaling skin, Scaling skin, Nonepidermolytic palmoplantar hyperkeratosis, Diffuse pa... ORPHA:530838
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Cutis laxa, Scaling skin, Alopecia of scalp, Absent pubic hair, Dry skin, General... ORPHA:2269
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Absent eyelashes, Distichiasis, Sparse hair, Low anterior hairline ORPHA:79133
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Sacral hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertrichosis, Thoracic hypertri... OMIM:117850
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Loose Anagen Syndrome
Abnormal hair morphology, Abnormal hair whorl ORPHA:168
Hypotrichosis And Recurrent Skin Vesicles
Sparse body hair, Sparse eyebrow, Skin vesicle, Sparse scalp hair, Leukonychia, Sparse axillary h... OMIM:613102
Hypotrichosis 14
Sparse body hair, Sparse pubic hair, Short eyelashes, Sparse hair, Absent axillary hair OMIM:618275
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Classic Mycosis Fungoides
Alopecia, Skin ulcer, Abnormality of the nail, Erythema, Hyperkeratosis, Dry skin ORPHA:2584
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Rothmund-Thomson Syndrome, Type 1
Absent eyelashes, Thin nail, Absent eyebrow, Sparse hair, Nail dystrophy OMIM:618625
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Huriez Syndrome
Lack of skin elasticity, Small nail, Abnormality of the nail, Palmoplantar keratoderma, Dry skin ORPHA:384
Bjornstad Syndrome
Alopecia, Dry hair, Pili torti, Brittle hair, Coarse hair, Hair shafts flattened at irregular int... OMIM:262000
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Facial erythema, Sparse eyebrow, Scarring alopecia of scalp, Dry skin, Follicular hyperkeratosis,... OMIM:308800
Oliver-Mcfarlane Syndrome
Alopecia, Long eyebrows, Long eyelashes, Sparse hair OMIM:275400
Cardiofaciocutaneous Syndrome 2
Curly hair, Absent eyebrow, Sparse hair, Fine hair OMIM:615278
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Chronic Hiccup
Dehydration ORPHA:396
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Fingernail dysplasia, Ridged fingernail, Onychogryposis of fingernail, Sparse hair ORPHA:2251
Anonychia With Flexural Pigmentation
Anonychia, Dry skin OMIM:106750
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Ridged nail, Nail dystrophy, Nail pits OMIM:601705
Cataract 42
Cataract, Developmental cataract OMIM:115900
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Abnormality of the pubic hair, Fine hair, Abnorma... ORPHA:90368
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Fine hair, Dystrophic fingernails ORPHA:1882
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse body hair, Sparse scalp hair, Absent eyelashes, Supernumerary nipple, Trichodysplasia, Abn... ORPHA:1809
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Hypoplastic toenails, Sparse scalp hair, Small nail, Pili torti, Absent facial hair, Pa... OMIM:613573
Erythrokeratodermia Variabilis Et Progressiva 2
Hypertrichosis OMIM:617524
Alopecia Antibody Deficiency
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Abnormal eyelash morphology ORPHA:1006
Erythrokeratodermia Variabilis Et Progressiva 7
Dystrophic toenail, Woolly hair OMIM:619209
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Brittle hair, Small for gestational age, Dry skin, Slow-growing hair OMIM:616943
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Coarse hair OMIM:616390
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Nail dystrophy, Anonychia, Scarring alopecia of scalp ORPHA:79402
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Pilodental Dysplasia With Refractive Errors
Brittle scalp hair, Sparse scalp hair, Abnormality of the nail, Brittle hair OMIM:262020
Naxos Disease
Abnormality of hair texture, Sparse scalp hair, Curly hair, Woolly hair ORPHA:34217
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Pili torti, Fine hair, Brittle hair ORPHA:1573
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Hypotrichosis 5
Alopecia, Thin eyebrow, Abnormality of the nail, Abnormal sweat gland morphology, Absent pubic ha... OMIM:612841
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Ectodermal Dysplasia 13, Hair/Tooth Type
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Brittle hair OMIM:617392
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyelashes, Alopecia of scalp, Absent eyebrow, Sparse hair, Dystrophic fingernails, Nail dy... OMIM:604536
Porokeratosis Of Mibelli
Hyperkeratosis, Pruritus ORPHA:735
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Sparse eyebrow, Brittle hair, Progressive hypotrichosis, Nail dysplasia, Sparse eyelashes, Abnorm... OMIM:225060
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse body hair, Sparse eyebrow, Curly hair, Pili torti, Brittle hair, Curly eyelashes, Sparse e... OMIM:602400
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Brittle hair, Alopecia totalis, Fine hair, Onycholysis, Nai... OMIM:129500
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Acquired Ichthyosis
Hyperkeratosis, Palmoplantar keratoderma, Dry skin, Erythema ORPHA:454
Schöpf-Schulz-Passarge Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse hair ORPHA:50944
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Odontoonychodermal Dysplasia
Sparse body hair, Dystrophic toenail, Dry hair, Sparse scalp hair, Sparse eyebrow, Palmoplantar e... OMIM:257980
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Proliferating Trichilemmal Cyst
Sparse scalp hair ORPHA:492
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Sparse hair, Abnormal fingernail morphology ORPHA:1810
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair ORPHA:2985
Pseudopelade Of Brocq
Alopecia, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, Abnormal... ORPHA:129
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Amelo-Onycho-Hypohidrotic Syndrome
Hypoplastic toenails, Fine hair, Abnormal fingernail morphology, Onycholysis, Hyperkeratosis, Dry... ORPHA:1028
Trichomegaly
Cataract OMIM:190330
Nail Disorder, Nonsyndromic Congenital, 3
Abnormal hair morphology, Leukonychia, Concave nail OMIM:151600
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Scaling skin, Alopecia of scalp, Nail dystrophy, Palmoplantar keratoderma, Dry skin OMIM:618373
Amaurosis-Hypertrichosis Syndrome
Synophrys, Thick eyebrow, Abnormal eyelash morphology, Coarse hair ORPHA:1021
Lamellar Ichthyosis
Lack of skin elasticity, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, Hyperkeratos... ORPHA:313
Olmsted Syndrome 2
Alopecia universalis, Palmoplantar hyperkeratosis, Woolly hair, Parakeratosis, Palmoplantar kerat... OMIM:619208
Nathalie Syndrome
Cataract ORPHA:2663
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Familial Melanoma
Abnormal hair morphology, Dry skin ORPHA:618
Xq27.3Q28 Duplication Syndrome
Sparse body hair ORPHA:261483
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Amyloidosis, Primary Localized Cutaneous, 3
Dry skin OMIM:617920
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair ORPHA:181
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair OMIM:613576
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Sparse hair, Brittle hair ORPHA:1883
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin ORPHA:2271
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Congenital Disorder Of Glycosylation, Type Iq
Cutis laxa, Hypertrichosis, Failure to thrive, Hyperkeratosis, Dry skin OMIM:612379
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Bazex Syndrome
Trichorrhexis nodosa, Pili torti, Coarse hair, Trichoepithelioma, Sparse hair OMIM:301845
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Alopecia of scalp, Abnormal hair quantity, Low posterior hairline, Dry... ORPHA:2617
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Leukonychia, Onycholysis, Scaling skin, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyper... OMIM:616295
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Absent hair, Sparse eyebrow, Facial erythema, Sparse scalp hair, Trichorrhexis nodosa, Abnormalit... ORPHA:1010
Skin Fragility-Woolly Hair Syndrome
Alopecia, Sparse eyebrow, Palmoplantar erythema, Palmoplantar hyperkeratosis, Woolly hair, Palmop... OMIM:607655
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Pustule, Dehydration OMIM:616069
Complex Regional Pain Syndrome
Slow-growing nails, Abnormality of hair growth, Dry skin, Erythema ORPHA:83452
Eem Syndrome
Sparse body hair, Sparse scalp hair, Absent eyebrow ORPHA:1897
Congenital Heart Defects And Ectodermal Dysplasia
High anterior hairline, Medial flaring of the eyebrow, Sparse scalp hair, Fragile nails, Dry skin OMIM:617364
Hypotrichosis 3
Abnormal sweat gland morphology, Sparse scalp hair, Abnormal eyelash morphology, Abnormality of t... OMIM:613981
Hydrocephalus-Obesity-Hypogonadism Syndrome
Absent facial hair, Sparse facial hair, Low posterior hairline ORPHA:2183
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Lessel-Kubisch Syndrome
Sparse pubic hair, Premature graying of hair OMIM:618681
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Sparse eyebrow, Onychogryposis of toenails, Dry skin OMIM:600906
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse body hair, Sparse scalp hair, Sparse lateral eyebrow, Absent eyelashes, Periorbital wrinkl... OMIM:614941
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Peeling Skin Syndrome 6
Parakeratosis, Scaling skin, Dry skin, Orthokeratosis OMIM:618084
Rhizomelic Chondrodysplasia Punctata
Sparse body hair, Alopecia, Dry skin ORPHA:177
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Brittle hair, Absent nipple, Sparse hair, Dry skin OMIM:614940
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin ORPHA:461
Copper Deficiency, Familial Benign
Early balding, Curly hair OMIM:121270
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse axillary hair, Sparse pubic hair OMIM:146110
White Sponge Nevus 2
Edema, Hyperparakeratosis OMIM:615785
Ichthyosis Vulgaris
Dry skin OMIM:146700
Scalp Defects-Postaxial Polydactyly Syndrome
Sparse scalp hair ORPHA:1003
Gand Syndrome
Sparse hair OMIM:615074
Alopecia-Intellectual Disability Syndrome
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair ORPHA:2850
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair OMIM:273390
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Woolly hair OMIM:605676
Leopard Syndrome 3
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Dry skin OMIM:613707
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Trichorrhexis nodosa, Brittle hair, Woolly hair, Nail dysplasia, Concave nail, Sparse... OMIM:234050
Trichohepatoenteric Syndrome 2
Trichorrhexis nodosa, Brittle hair, Woolly hair, Uncombable hair, Sparse hair OMIM:614602
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Scarring alopecia of scalp, Sparse eyelashes ORPHA:59303
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Olmsted Syndrome 1
Orthokeratosis, Alopecia universalis, Parakeratosis, Nail dysplasia, Subungual hyperkeratosis, Hy... OMIM:614594
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Sparse eyebrow, Alopecia, Orthokeratosis, Parakeratosis, Sparse eyelashes, Sparse hair, Dry skin,... OMIM:607626
Congenital Disorder Of Glycosylation, Type Im
Sparse eyebrow, Alopecia, Failure to thrive, Sparse eyelashes, Hyperkeratosis, Dry skin OMIM:610768
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Long eyelashes, Hirsutism, Thick eyebrow, Sparse hair, Low anterior hairline OMIM:616819
Odontotrichoungual-Digital-Palmar Syndrome
Abnormality of hair texture, Nail dystrophy, Nail dysplasia OMIM:601957
Phenylketonuria
Fair hair, Dry skin OMIM:261600
Focal Facial Dermal Dysplasia Type Iii
Sparse lateral eyebrow, Abnormal hair pattern, Highly arched eyebrow, Sparse lower eyelashes, Dis... ORPHA:1807
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis, Dry skin OMIM:617066
Hypohidrotic Ectodermal Dysplasia
Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized hypopigmentation of hair, Br... ORPHA:238468
Trichothiodystrophy 8, Nonphotosensitive
Trichorrhexis nodosa, Sparse eyebrow, Sparse hair, Woolly hair OMIM:619691
Oligodontia-Colorectal Cancer Syndrome
Sparse body hair, Sparse scalp hair, Sparse axillary hair, Absent eyebrow, Short eyelashes OMIM:608615
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism OMIM:604931
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Synophrys, Hirsutism, Dry skin, Abnormal hair whorl, Low posterior hairline, Nail dystrophy, Incr... OMIM:300860
Galactosemia Iv
Cataract OMIM:618881
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Chronic furunculosis, Acne inversa, Recurrent cutaneous abscess formation, Foll... OMIM:613736
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Dry skin, Onychauxis, Hypertrichosis OMIM:262190
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus OMIM:618531
Hereditary Mucoepithelial Dysplasia
Alopecia, Sparse hair, Fine hair ORPHA:1839
Uv-Sensitive Syndrome 3
Dry skin OMIM:614640
Prolidase Deficiency
Skin ulcer, Abnormal fingernail morphology, White forelock, Hirsutism, Hyperkeratosis, Erythema, ... ORPHA:742
Blepharocheilodontic Syndrome 1
High anterior hairline, Small nail, Nail dysplasia, Distichiasis, Sparse hair OMIM:119580
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Parakeratosis, Scaling skin, Hyperkeratosis, Palmoplantar keratoderma, Dry skin OMIM:612281
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Tooth Agenesis, Selective, 4
Sparse body hair, Dystrophic toenail, Sparse eyebrow, Sparse scalp hair, Palmar hyperkeratosis, S... OMIM:150400
Growth Hormone Insensitivity Syndrome
Fine hair, Abnormality of the nail ORPHA:181393
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Nail dysplasia, Sparse hair, Nail dystrophy OMIM:242300
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract OMIM:604219
Trichothiodystrophy 1, Photosensitive
Small nail, Tiger tail banding, Pili torti, Trichorrhexis nodosa, Brittle hair, Small for gestati... OMIM:601675
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Onychotrichodysplasia And Neutropenia
Curly hair, Trichorrhexis nodosa, Sparse pubic hair, Hypoplastic fingernail, Concave nail, Curly ... OMIM:258360
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fine hair ORPHA:2221
Peeling Skin Syndrome 1
Onycholysis, Nail dystrophy, Brittle hair OMIM:270300
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Sjögren-Larsson Syndrome
Hyperkeratosis, Dry skin, Erythema ORPHA:816
Progeroid Syndrome, Petty Type
Brittle hair, Long eyelashes in irregular rows, Abnormality of the nail, Generalized hirsutism, A... ORPHA:2963
Harlequin Ichthyosis
Hyperkeratosis, Erythroderma, Dehydration ORPHA:457
Sézary Syndrome
Alopecia, Palmoplantar keratoderma, Dry skin, Nail dystrophy ORPHA:3162
Localized Junctional Epidermolysis Bullosa
Atrophic, patchy alopecia, Dystrophic toenail, Sparse axillary hair, Scarring alopecia of scalp, ... ORPHA:251393
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Enteric Anendocrinosis
Dehydration ORPHA:83620
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Pachyonychia Congenita 2
Dry hair, Sparse eyebrow, Sparse scalp hair, Nail dysplasia, Subungual hyperkeratosis, Nail dystr... OMIM:167210
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Bathing Suit Ichthyosis
Alopecia, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Scaling skin, Parakeratosis, Sp... ORPHA:100976
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Adult Syndrome
Alopecia, Toenail dysplasia, Sparse scalp hair, Fingernail dysplasia, Absent nipple, Skin ulcer, ... ORPHA:978
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Cachexia, Supernumerary nipple, Fine hair, Failure to thrive, Nail dyspla... ORPHA:217346
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin OMIM:218650
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Sparse hair OMIM:183849
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Leopard Syndrome 2
Curly hair, Dry skin OMIM:611554
Dermatitis, Atopic
Facial erythema, Dry skin, Pallor OMIM:603165
Acrodermatitis Enteropathica
Alopecia, Abnormal eyebrow morphology, Weight loss, Skin ulcer, Abnormality of the nail, Failure ... ORPHA:37
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Uv-Sensitive Syndrome 1
Dry skin OMIM:600630
Congenital Lethal Erythroderma
Failure to thrive, Dry skin ORPHA:1954
Familial Cold Urticaria
Pruritus, Dehydration ORPHA:47045
Rapp-Hodgkin Syndrome
Sparse eyebrow, Small nail, Supernumerary nipple, Fine hair, Onychogryposis, Decreased number of ... OMIM:129400
Reticular Dysgenesis
Skin rash, Dehydration ORPHA:33355
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Orthokeratosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Ony... ORPHA:79395
Androgen Insensitivity Syndrome
Sparse axillary hair, Absent facial hair, Sparse pubic hair OMIM:300068
Adiposis Dolorosa
Sparse axillary hair, Obesity, Dry skin, Sparse pubic hair ORPHA:36397
Netherton Syndrome
Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Abnormal hair morphology, Spa... ORPHA:634
Naegeli-Franceschetti-Jadassohn Syndrome
Dystrophic toenail, Malalignment of the great toenail, Palmoplantar hyperkeratosis, Decreased num... ORPHA:69087
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Ifap Syndrome 2
Sparse hair, Nail dystrophy, Atrichia OMIM:619016
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse eyebrow, Sparse hair OMIM:619989
Distal Trisomy 6P
Abnormal hair quantity, Dry skin, Abnormal eyelash morphology, Fine hair ORPHA:1745
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Small nail, Hypoplastic nipples, Sparse hair OMIM:273400
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Sparse hair, Nail dystrophy OMIM:616353
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Dry skin, Increased body weight OMIM:614450
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Hyperkeratosis, Pruritus OMIM:617571
Olmsted Syndrome, X-Linked
Palmoplantar hyperkeratosis, Alopecia totalis, Parakeratosis, Palmoplantar keratoderma, Subungual... OMIM:300918
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Dry skin OMIM:268020
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
Ataxia-Photosensitivity-Short Stature Syndrome
Dry skin ORPHA:1184
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Sparse scalp hair, Absent eyelashes, Cobblestone-like hyperkeratosis, Scarring al... OMIM:602540
Galactosemia Ii
Cataract OMIM:230200
Lymphatic Malformation 4
Pedal edema, Hyperkeratosis, Lymphedema OMIM:615907
Filippi Syndrome
Hypertrichosis, Frontal hirsutism, Sparse hair OMIM:272440
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Brittle hair, Reduced hair sulfur content, Sparse hair, Slow-... OMIM:300953
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Noonan Syndrome 5
Sparse eyebrow, Curly hair, Small nail, Large for gestational age, Fine hair, Dry skin OMIM:611553
Anauxetic Dysplasia 2
Nail dysplasia, Small nail, Sparse hair OMIM:617396
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Lelis Syndrome
Sparse lateral eyebrow, Yellow nails, Absent lower eyelashes, Abnormal toenail morphology, Sparse... ORPHA:140936
Transient Neonatal Diabetes Mellitus
Dehydration ORPHA:99886
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Nail dystrophy, Fragile nails, Leukonychia, Woolly hair OMIM:615821
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin OMIM:105250
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:846
Peeling Skin Syndrome 4
Orthokeratosis, Scaling skin, Palmoplantar keratoderma, Hyperkeratosis, Nail dystrophy OMIM:607936
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Follicular hyperkeratosis, Overweight ORPHA:486815
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Bachmann-Bupp Syndrome
Sparse scalp hair, Small nail, Large for gestational age, Absent eyebrow, Sparse eyelashes, Dry skin OMIM:619075
Acrogeria
Fine hair ORPHA:2500
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Aplasia/Hypoplasia of the eyebrow, Sparse hair ORPHA:261304
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse body hair, Alopecia, Sparse scalp hair, Absent eyelashes, Absent eyebrow ORPHA:69735
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perianal erythema, Perioral erythema, Failure to thrive, Alopecia of scalp, Paronychia, Dry skin OMIM:201100
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
Jung Syndrome
Dry skin, Low posterior hairline ORPHA:2321
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Radio-Tartaglia Syndrome
High anterior hairline, Small nail, Striae distensae, Synophrys, Long eyebrows, Long eyelashes, O... OMIM:619312
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Menkes Disease
Alopecia, Sparse hair, Brittle hair OMIM:309400
Vulto-Van Silfhout-De Vries Syndrome
Widow's peak, Horizontal eyebrow, Fine hair OMIM:615828
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Nicolaides-Baraitser Syndrome
Alopecia, Long eyelashes, Abnormal hair pattern, Highly arched eyebrow, Curly eyelashes, Sparse hair ORPHA:3051
Ichthyosis, Congenital, Autosomal Recessive 10
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma OMIM:615024
Giant Axonal Neuropathy
Pili canaliculi, Woolly hair ORPHA:643
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Scaling skin, Hyperkeratosis, Dry skin, Erythema OMIM:614457
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Weaver Syndrome
Hypoplastic toenails, Fine hair, Thin nail, Abnormal fingernail morphology, Deep-set nails ORPHA:3447
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
High anterior hairline, Long eyelashes, Fine hair ORPHA:231137
Omenn Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow, Failure to thrive, Dry skin ORPHA:39041
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Failure to thrive in infancy, Dry skin OMIM:618156
Usher Syndrome Type 3
Iris hypopigmentation, Astigmatism, Cataract, Depression, Anxiety ORPHA:231183
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract OMIM:600881
Riddle Syndrome
Dry skin OMIM:611943
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Intellectual Developmental Disorder, Autosomal Dominant 34
Synophrys, Curly hair, Coarse hair OMIM:616351
Craniofrontonasal Dysplasia
Widow's peak, Ridged fingernail, Woolly hair, Low posterior hairline, Abnormality of hair texture ORPHA:1520
Central Diabetes Insipidus
Dehydration ORPHA:178029
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair OMIM:300869
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Desbuquois Syndrome
Sparse hair, Abnormal eyelash morphology ORPHA:1425
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Nail dystrophy, Coarse hair ORPHA:75389
Hawkinsinuria
Sparse hair OMIM:140350
Cranioectodermal Dysplasia
Abnormal fingernail morphology, Sparse hair, Abnormal toenail morphology ORPHA:1515
Cronkhite-Canada Syndrome
Sparse body hair, Alopecia, Dystrophic toenail, Aplasia/Hypoplasia of the eyebrow, Hypoplastic to... ORPHA:2930
Acrofacial Dysostosis, Palagonia Type
Sparse lateral eyebrow, Pili torti, Thin eyebrow, Sparse eyelashes, Sparse hair, Low anterior hai... ORPHA:1787
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Cardiofaciocutaneous Syndrome