Gene Summary

Name:
keratin 17
Synonyms:
K17,  Krt1-17

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased hematocrit Krt17tm1.1(KOMP)Vlcg HET Early adult 5.98×10-09
increased heart weight Krt17tm1.1(KOMP)Vlcg HET   Early adult 5.88×10-07
increased hemoglobin content Krt17tm1.1(KOMP)Vlcg HET   Early adult 5.68×10-05

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
Esophagus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 50% (1 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Trachea  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)
Brain 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)
Epididymis 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
Lung 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)
Pancreas 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)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Urinary bladder 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
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote Ambiguous
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote Ambiguous
Vibrissa N/A heterozygote 100% (2 of 2)
N/A Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thalamus 0.0%
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
urinary bladder 0.0%
uterus 0.0%
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)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
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)
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)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
vibrissa 1.35% (1 of 74)

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

Sleep Wake

Wake state (bmp file)

5 Images

Adult LacZ

LacZ Images Section

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Krt17 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 Krt17 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Krt17 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Central Centrifugal Cicatricial Alopecia
Scarring alopecia of scalp OMIM:618352
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp OMIM:610753
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Alopecia Universalis
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes ORPHA:701
Hypotrichosis 5
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair OMIM:612841
Hypotrichosis 4
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair OMIM:146550
Hypotrichosis Simplex
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... ORPHA:55654
Hypotrichosis 11
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... OMIM:615059
Alopecia Areata 1
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail OMIM:614928
Hypotrichosis 2
Sparse scalp hair OMIM:146520
Hypotrichosis 3
Sparse scalp hair OMIM:613981
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... ORPHA:3361
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair ORPHA:505
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Congenital alopecia totalis, Alopecia universalis OMIM:104130
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... OMIM:602032
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Pili Torti
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... ORPHA:2889
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Congenital alopecia totalis, Nail pits ORPHA:169095
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... OMIM:614929
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Monilethrix
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair OMIM:158000
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hypotrichosis 13
Sparse and thin eyebrow, Sparse hair, Woolly hair OMIM:615896
Hypotrichosis 1
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... OMIM:605389
Trichodysplasia-Xeroderma
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... OMIM:190360
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Crandall Syndrome
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:202
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hair Defect With Photosensitivity And Mental Retardation
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair OMIM:234030
Witkop Syndrome
Fine hair, Small nail, Ridged nail, Concave nail, Sparse hair, Nail pits OMIM:189500
Monilethrix
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... ORPHA:573
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... ORPHA:189
Cerebellar Ataxia And Ectodermal Dysplasia
Alopecia, Sparse hair OMIM:212835
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Hypertrichosis Lanuginosa Congenita
Double eyebrow, Congenital, generalized hypertrichosis OMIM:145700
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Alopecia, Sparse hair OMIM:203600
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... ORPHA:444
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Parc Syndrome
Alopecia, Absent eyebrow, Absent eyelashes OMIM:600331
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse and thin eyebrow, Alopecia, Hypoplastic toenails, Abnormal fingernail morphology, Sparse h... ORPHA:2722
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Hypotrichosis 7
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair OMIM:604379
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Trichodental Dysplasia
Fine hair, Brittle hair, Sparse hair, Slow-growing hair OMIM:601453
Hypotrichosis 6
Sparse eyelashes, Brittle hair, Pili torti, Sparse and thin eyebrow, Sparse hair OMIM:607903
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair OMIM:617294
Hypotrichosis 10
Sparse eyelashes, Sparse eyebrow, Sparse body hair OMIM:614238
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Alopecia of scalp, Trichodysplasia ORPHA:79129
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Ichthyosis, Congenital, Autosomal Recessive 11
Brittle hair, Curly hair, Pili torti, Hypohidrosis, Sparse and thin eyebrow, Sparse hair OMIM:602400
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Palmoplantar Keratoderma And Congenital Alopecia 1
Brittle hair, Alopecia, Sparse eyebrow, Hyperpigmentation of the skin, Nail dysplasia, Leukonychi... OMIM:104100
Candidiasis, Familial, 1
Alopecia OMIM:114580
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Freckling, Brittle hair, Melanocytic nevus, Pili torti, Sparse scalp hair ORPHA:1573
Thumb Deformity And Alopecia
Increased groin pigmentation with raindrop depigmentation, Alopecia OMIM:188150
Dwarfism, Familial, With Muscle Spasms
Fine hair, Sparse scalp hair, Brittle scalp hair OMIM:600771
Clouston Syndrome
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... OMIM:129500
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Aplasia/Hypoplasia of the eyebrow, Pili torti, Sparse or absent eyelashes, Abnormality of hair te... ORPHA:2891
Pilodental Dysplasia With Refractive Errors
Brittle hair, Reticular hyperpigmentation, Brittle scalp hair, Abnormality of the nail, Sparse sc... OMIM:262020
L-Ferritin Deficiency
Alopecia OMIM:615604
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair OMIM:211390
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:261900
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Brittle hair, Coarse hair OMIM:616390
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Alopecia, Woolly scalp hair, Woolly hair OMIM:601217
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Congenital onychodystro... ORPHA:2890
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Hypohidrosis, Abnorma... ORPHA:248
Peeling Skin Syndrome 1
Brittle hair, Onycholysis, Abnormality of hair texture OMIM:270300
Woolly Hair, Autosomal Recessive 3
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair OMIM:616760
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Nail dystrophy, Alopecia, Nail pits OMIM:601705
Kerion Celsi
Alopecia ORPHA:499
Bullous Dystrophy, Hereditary Macular Type
Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail OMIM:302000
Trichohepatoenteric Syndrome 2
Brittle hair, Trichorrhexis nodosa, Uncombable hair, Woolly hair, Sparse hair, Pili canaliculi OMIM:614602
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Progressive hypotrichosis, Sparse eyelashes, Brittle hair, Abnormality of hair texture, Nail dysp... OMIM:225060
Uncombable Hair Syndrome 3
Curly hair, Pili canaliculi, Uncombable hair OMIM:617252
Trichothiodystrophy 3, Photosensitive
Tiger tail banding, Brittle hair OMIM:616395
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse body hair, Sparse scalp hair, Melanocytic nevus, Alopecia universalis, Abnormal eyelash mo... ORPHA:1008
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Anterior cervical hypertrichosis, Lumbar hypertrichosis, Sacral hypertrichosis, Thoracic hypertri... OMIM:117850
Angioma Serpiginosum, X-Linked
Fine hair, Nail dystrophy, Sparse hair OMIM:300652
Deafness-Craniofacial Syndrome
Alopecia OMIM:125230
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Methemoglobinemia, Anemia OMIM:613977
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Coarse hair, Sparse hair ORPHA:1883
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Brittle hair, Alopecia, Hyperpigmentation of the skin ORPHA:50812
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Fine hair, Dystrophic fingernails, Dystrophic toenail, Sparse and thin eyebrow, Alopecia, Melanoc... ORPHA:1882
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair OMIM:614931
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin ORPHA:3319
Porphyria Cutanea Tarda
Alopecia, Hyperpigmentation in sun-exposed areas, Facial hypertrichosis, Onycholysis OMIM:176100
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Nail dystrophy, Alopecia, Sparse hair OMIM:616353
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Palmoplantar Keratoderma And Woolly Hair
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc... OMIM:616099
Trichothiodystrophy 6, Nonphotosensitive
Slow-growing hair, Brittle hair, Tiger tail banding OMIM:616943
Quinquaud Folliculitis Decalvans
Patchy alopecia, Abnormal hair morphology, Scarring alopecia of scalp ORPHA:346
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Woolly Hair, Autosomal Dominant
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair OMIM:194300
Trichothiodystrophy 4, Nonphotosensitive
Sparse eyelashes, Small nail, Brittle hair, Trichorrhexis nodosa, Abnormality of hair texture, Na... OMIM:234050
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Ectodermal Dysplasia-Syndactyly Syndrome 1
Small nail, Sparse eyelashes, Sparse and thin eyebrow, Coarse hair, Alopecia, Pili torti, Absent ... OMIM:613573
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, Alopecia, Nail dysplasia, Reticula... ORPHA:79397
Progeroid Syndrome, Petty Type
Long eyelashes in irregular rows, Abnormal hair morphology, Brittle hair, Thick eyebrow, Generali... ORPHA:2963
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Fine hair, Sparse eyelashes, Nail dysplasia, Hypohidrosis, Slow-growing hair, Sparse and thin eye... OMIM:129490
Ethanolaminosis
Cardiomegaly OMIM:227150
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia OMIM:614564
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Carvajal Syndrome
Woolly hair ORPHA:65282
Pseudopelade Of Brocq
Abnormal hair morphology, Alopecia, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasi... ORPHA:129
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Onychogryposis of fingernail, Fingernail dysplasia, Hyperpigmentation... ORPHA:2251
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Trichothiodystrophy 5, Nonphotosensitive
Slow-growing hair, Brittle hair, Sparse hair, Tiger tail banding OMIM:300953
Oliver-Mcfarlane Syndrome
Alopecia, Long eyelashes, Central heterochromia, Pigmentary retinopathy, Sparse hair, Long eyebrows OMIM:275400
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Anhidrosis, Dystrophic toenail OMIM:619209
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Nail dystrophy, Brittle hair, Alopecia, Coarse hair ORPHA:75389
Moynahan Syndrome
Alopecia, Sparse hair ORPHA:2574
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Netherton Syndrome
Sparse and thin eyebrow, Brittle hair, Brittle scalp hair, Sparse scalp hair OMIM:256500
Hypotrichosis 12
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... OMIM:615885
Choroidal Atrophy-Alopecia Syndrome
Fine hair, Abnormality of retinal pigmentation, Ungual fibroma, Abnormal toenail morphology, Spar... ORPHA:1433
Naxos Disease
Abnormality of hair texture, Curly hair, Hyperhidrosis, Woolly hair, Sparse scalp hair ORPHA:34217
Hypodontia-Dysplasia Of Nails Syndrome
Fine hair, Thin toenail, Fragile nails, Abnormality of the nail, Hypoplastic fingernail, Hypoplas... ORPHA:2228
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Nail dystrophy, Alopecia OMIM:618373
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Sparse hair ORPHA:1174
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Dry hair, Onychogryposis of toenails, Sparse hair OMIM:164680
Trichotillomania
Alopecia OMIM:613229
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Alopecia, Hypohidrosis OMIM:615704
Brachycephaly, Trichomegaly, And Developmental Delay
Highly arched eyebrow, Brittle hair, Long eyelashes, Thick eyebrow, Synophrys OMIM:617412
Bazex-Dupré-Christol Syndrome
Sparse and thin eyebrow, Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse or absent eyelashe... ORPHA:113
Skin Fragility-Woolly Hair Syndrome
Sparse eyelashes, Nail dystrophy, Alopecia, Nail dysplasia, Woolly hair, Sparse and thin eyebrow OMIM:607655
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Trichothiodystrophy 1, Photosensitive
Fine hair, Tiger tail banding, Small nail, Freckling, Brittle hair, Nail dystrophy, Trichorrhexis... OMIM:601675
Diamond-Blackfan Anemia 16
Atrial septal defect, Anemia, Pulmonic stenosis OMIM:617408
Trichodermodysplasia-Dental Alterations Syndrome
Fine hair, Sparse lateral eyebrow, Brittle hair, Sparse or absent eyelashes, Multiple cafe-au-lai... ORPHA:3353
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Hyperpigmentation of the skin, Alopecia, Melanocytic nevus OMIM:612079
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Hyperhidrosis, Alopecia universalis, Sp... OMIM:614594
Bazex Syndrome
Hyperpigmentation of the skin, Coarse hair, Trichorrhexis nodosa, Pili torti, Hypohidrosis, Spars... OMIM:301845
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Nail dystrophy, Alopecia totalis OMIM:212360
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Dilution, Pigmentary
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin OMIM:126070
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Pseudoprogeria Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Sparse and thin eyebrow, Sparse hair ORPHA:2985
Mandibuloacral Dysplasia With Type B Lipodystrophy
Brittle hair, Alopecia, Abnormality of hair texture, Sparse hair, Mottled pigmentation OMIM:608612
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Nail dystrophy, Brittle hair, Dry hair ORPHA:93947
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp OMIM:136300
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Coarse hair, Abnormality of hair texture OMIM:219200
Schöpf-Schulz-Passarge Syndrome
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Alopecia ORPHA:50944
Hawkinsinuria
Fine hair, Sparse hair ORPHA:2118
Erythrokeratodermia Variabilis
Abnormal hair morphology, Alopecia, Irregular hyperpigmentation, Abnormality of the nail, General... ORPHA:317
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Alopecia, Sparse body hair ORPHA:2850
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Sparse and thin eyebrow, Sparse eyelashes, Abnormality of the nail, Alopecia OMIM:129540
Pachyonychia Congenita 2
Dry hair, Subungual hyperkeratosis, Nail dystrophy, Sparse and thin eyebrow, Nail dysplasia, Spar... OMIM:167210
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Cardiofaciocutaneous Syndrome 2
Fine hair, Curly hair, Sparse hair, Absent eyebrow OMIM:615278
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Alopecia OMIM:617763
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Brittle hair, Sparse eyebrow OMIM:618810
Ichthyosis, Congenital, Autosomal Recessive 2
Small nail, Abnormal hair morphology, Thin nail, Alopecia, Hypohidrosis OMIM:242100
Keratoderma Hereditarium Mutilans
Abnormal toenail morphology, Alopecia, Abnormality of the nail ORPHA:494
Idiopathic Trachyonychia
Ridged nail, Fingernail dysplasia, Thin nail, Nail dystrophy, Circumungual hyperkeratosis, Vitili... ORPHA:79153
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Aplasia/Hypoplastia of the eccrine sweat glands, Sparse eyelashes, Hypoplastic nipples, Sparse ha... OMIM:305100
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Sparse hair, Uncombable hair ORPHA:1264
Congenital Non-Bullous Ichthyosiform Erythroderma
Alopecia, Abnormality of the nail, Hypohidrosis ORPHA:79394
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Fingernail dysplasia, Abnormal fingernail morphology, Alopecia, Hypoplastic toenails, Sparse scal... ORPHA:2325
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the nail, Sparse hair, Toenail dysplasia OMIM:607823
Amaurosis-Hypertrichosis Syndrome
Coarse hair, Thick eyebrow, Abnormal eyelash morphology, Synophrys ORPHA:1021
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia OMIM:203550
Dermatopathia Pigmentosa Reticularis
Nail dystrophy, Alopecia of scalp, Reticular hyperpigmentation, Hypohidrosis OMIM:125595
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair, Hypopigmentation of the skin OMIM:236200
Hypervitaminosis A, Susceptibility To
Alopecia totalis OMIM:240150
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia OMIM:616576
Craniolenticulosutural Dysplasia
Abnormality of skin pigmentation, Brittle hair, Hyperpigmentation of the skin, Coarse hair, Spars... ORPHA:50814
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis ORPHA:1366
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Hypotrichosis Simplex Of The Scalp
Fine hair, Sparse scalp hair, Alopecia of scalp, Slow-growing scalp hair ORPHA:90368
Alopecia-Intellectual Disability Syndrome 4
Alopecia OMIM:618840
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Sparse eyelashes, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Nail dysplasia, Sparse an... OMIM:612843
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Nail dystrophy, Alopecia, Sparse hair OMIM:242300
Classic Mycosis Fungoides
Hypopigmented skin patches, Alopecia, Irregular hyperpigmentation, Abnormality of the nail ORPHA:2584
Hereditary Bullous Dystrophy, Macular Type
Spotty hypopigmentation, Hyperpigmentation of the skin, Nail dystrophy, Alopecia, Atrichia, Conge... ORPHA:1867
Odontoonychodermal Dysplasia
Fine hair, Dry hair, Dystrophic fingernails, Dystrophic toenail, Sparse body hair, Sparse scalp h... OMIM:257980
Cronkhite-Canada Syndrome
Dystrophic fingernails, Patchy alopecia, Dystrophic toenail, Generalized hyperpigmentation, Abnor... ORPHA:2930
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia, Hypohidrosis, Sparse and thin eyebrow, Sparse hair OMIM:613451
Bathing Suit Ichthyosis
Nail dystrophy, Alopecia, Sparse hair, Hypohidrosis ORPHA:100976
Alpha-Heavy Chain Disease
Alopecia ORPHA:100025
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Nail dysplasia, Hypopigmentation of the skin, Abnormality of hair texture OMIM:601957
Hereditary Mucoepithelial Dysplasia
Fine hair, Alopecia, Sparse hair ORPHA:1839
Cardiofaciocutaneous Syndrome
Fine hair, Dystrophic fingernails, Generalized hyperpigmentation, Brittle hair, Multiple lentigin... ORPHA:1340
Hypomelanosis Of Ito
Alopecia, Macular hypopigmented whorls, streaks, and patches OMIM:300337
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Lichen Planopilaris
Hypopigmented skin patches, Abnormal fingernail morphology, Alopecia, Onycholysis ORPHA:525
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Alopecia of scalp, Sparse eyebrow, Absent pubic hair, Absent axillar... ORPHA:2269
Argininosuccinic Aciduria
Brittle hair, Dry hair, Trichorrhexis nodosa OMIM:207900
Bleeding Disorder, Platelet-Type, 21
Alopecia OMIM:617443
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Alopecia OMIM:618282
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Coarse hair OMIM:248010
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair OMIM:619184
Johnson Neuroectodermal Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Patent ductus arteriosus, Hypohidrosis, Multiple cafe... OMIM:147770
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormal hemoglobin, Anemia, Splenomegaly, Microcytic ... ORPHA:848
Syndromic Diarrhea
Brittle hair, Trichorrhexis nodosa, Uncombable hair, Patent ductus arteriosus, Woolly hair, Hypop... ORPHA:84064
Hemifacial Atrophy, Progressive
Poliosis, Patchy alopecia OMIM:141300
Acquired Hypertrichosis Lanuginosa
Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology ORPHA:2221
Trichohepatoenteric Syndrome 1
Fine hair, Brittle hair, Trichorrhexis nodosa, Curly hair, Woolly hair, Sparse hair OMIM:222470
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Fine hair, High anterior hairline, Long eyelashes, Hyperhidrosis ORPHA:231137
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Fine hair, Brittle hair, Sparse hair OMIM:618891
Fibrodysplasia Ossificans Progressiva
Alopecia ORPHA:337
Growth Hormone Insensitivity Syndrome
Fine hair, Abnormality of the nail ORPHA:181393
Trichothiodystrophy
Tiger tail banding, Alopecia of scalp, Dystrophic fingernails, Split nail, Ridged nail, Aplasia/H... ORPHA:33364
Amelo-Onycho-Hypohidrotic Syndrome
Fine hair, Onycholysis, Hypohidrosis, Hypoplastic toenails, Abnormal fingernail morphology ORPHA:1028
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair OMIM:124000
Johnson Neuroectodermal Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Hypohidrosis, Multiple cafe-au-lait spots, Sparse hair ORPHA:2316
Autoimmune Polyendocrinopathy Type 2
Hypopigmented skin patches, Alopecia ORPHA:3143
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Fine hair, Sparse scalp hair ORPHA:2324
Adult Syndrome
Fine hair, Hypoplastic nipples, Fingernail dysplasia, Freckling, Alopecia, Sparse scalp hair, Mel... ORPHA:978
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Woolly hair OMIM:605676
Oculodentodigital Dysplasia
Fine hair, Brittle hair, Curly hair, Abnormality of the nail, Slow-growing hair, Abnormal fingern... ORPHA:2710
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Sparse scalp hair, Sparse body hair ORPHA:69735
Olmsted Syndrome 2
Alopecia universalis, Sparse hair, Woolly hair OMIM:619208
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sparse hair, Alopecia, Abnormal fingernail morphology, Anhidrosis, Palmoplantar hyperhidrosis ORPHA:659
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Pili canaliculi, Uncombable hair OMIM:191482
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Curly eyelashes, Alopecia, Abnormal hair pattern, Long eyelashes, Sparse hair ORPHA:3051
Olmsted Syndrome, X-Linked
Alopecia totalis, Subungual hyperkeratosis OMIM:300918
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia OMIM:215100
Localized Junctional Epidermolysis Bullosa
Atrophic, patchy alopecia, Dystrophic fingernails, Dystrophic toenail, Nail dystrophy, Scarring a... ORPHA:251393
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Acrogeria
Fine hair, Irregular hyperpigmentation ORPHA:2500
Satoyoshi Syndrome
Alopecia universalis, Alopecia OMIM:600705
Cerebellofaciodental Syndrome
Fine hair, Sparse and thin eyebrow, Sparse hair OMIM:616202
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Sparse eyelashes, Thick hair, Alopecia, Sparse hair OMIM:607626
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Onychotrichodysplasia And Neutropenia
Curly eyelashes, Trichorrhexis nodosa, Sparse pubic hair, Curly hair, Hypoplastic fingernail, Con... OMIM:258360
Copper Deficiency, Familial Benign
Early balding, Curly hair OMIM:121270
Weaver Syndrome
Fine hair, Thin nail, Deep-set nails, Hypoplastic toenails, Abnormal fingernail morphology ORPHA:3447
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Dystrophic fingernails, Dystrophic toenail, Sparse lateral eyebrow, Nail d... ORPHA:3253
Centrifugal Lipodystrophy
Alopecia ORPHA:90156
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Fine hair, Sparse eyelashes, Hypoplastic nipples, Distichiasis, Absent pubic hair, Sparse hair, A... OMIM:211370
Diamond-Blackfan Anemia 6
Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Increased mean corpuscular v... OMIM:612561
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Leopard Syndrome 2
Curly hair, Multiple lentigines, Cafe-au-lait spot OMIM:611554
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Nail dystrophy, Fragile nails, Leukonychia, Woolly hair OMIM:615821
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Fragile nails OMIM:242150
Cardiofaciocutaneous Syndrome 3
Curly hair, Hyperhidrosis OMIM:615279
Craniolenticulosutural Dysplasia
Brittle hair, Sparse hair, Forehead hyperpigmentation, Coarse hair OMIM:607812
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Spinocerebellar Ataxia With Dysmorphism
Coarse hair OMIM:271270
Pachyonychia Congenita
Onychogryposis of fingernail, Fingernail dysplasia, Nail dystrophy, Alopecia, Paronychia, Onychog... ORPHA:2309
Rapp-Hodgkin Syndrome
Fine hair, Small nail, Decreased number of sweat glands, Progressive alopecia, Hypohidrosis, Onyc... OMIM:129400
Craniofrontonasal Dysplasia
Abnormality of hair texture, Woolly hair, Ridged fingernail, Low posterior hairline, Widow's peak ORPHA:1520
Renpenning Syndrome
Alopecia, Abnormal hair laboratory examination, Thin eyebrow ORPHA:3242
Rodrigues Blindness
Fine hair, Sparse hair OMIM:268320
Mucopolysaccharidosis, Type Iiia
Coarse hair, Hirsutism, Synophrys OMIM:252900
Keratoderma Hereditarium Mutilans With Ichthyosis
Nail dystrophy, Alopecia, Onychogryposis ORPHA:79395
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Multiple Carboxylase Deficiency
Alopecia ORPHA:148
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Giant Axonal Neuropathy
Pili canaliculi, Woolly hair ORPHA:643
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Alopecia totalis, Anonychia, Absent fingernail OMIM:609638
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Hirsutism OMIM:615830
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Autoimmune Polyendocrinopathy Type 1
Hypopigmented skin patches, Abnormal fingernail morphology, Alopecia ORPHA:3453
Sézary Syndrome
Nail dystrophy, Alopecia, Irregular hyperpigmentation ORPHA:3162
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Coarse hair, Synophrys OMIM:616351
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Leukonychia, Sparse axillary hair, Sparse ha... OMIM:613102
Ectodermal Dysplasia-Blindness Syndrome
Fine hair, Abnormality of skin pigmentation, Hypohidrosis, Abnormal fingernail morphology, Sparse... ORPHA:1806
Abnormal Hair, Joint Laxity, And Developmental Delay
Small nail, Sparse lateral eyebrow, Alopecia, Trichorrhexis nodosa, Pili torti, Fragile nails OMIM:261990
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Flynn-Aird Syndrome
Alopecia ORPHA:2047
Mandibulofacial Dysostosis With Alopecia
Sparse and thin eyebrow, Sparse eyelashes, Alopecia OMIM:616367
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse eyelashes, Freckling, Alopecia, Absent eyebrow, Absent eyelashes, Sparse and thin eyebrow,... OMIM:137940
Orofaciodigital Syndrome Type 1
Brittle hair, Sparse hair, Coarse hair, Alopecia ORPHA:2750
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Noonan Syndrome 6
Curly hair, Multiple lentigines, Low posterior hairline, Sparse hair, Long eyebrows, Cafe-au-lait... OMIM:613224
Netherton Syndrome
Fine hair, Sparse eyelashes, Abnormal hair morphology, Sparse scalp hair, Trichorrhexis nodosa, I... ORPHA:634
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology, Uncombable hair ORPHA:3082
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Nail dystrophy, Alopecia, Reticular hyperpigmentation, Sparse hair, Premature grayin... OMIM:127550
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Keutel Syndrome
Alopecia ORPHA:85202
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Fine hair, Thick eyebrow OMIM:614800
Mucopolysaccharidosis, Type Iiib
Coarse hair, Hirsutism, Synophrys OMIM:252920
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Abnormal toenail morphology, Sparse hair, Hypohidrosis ORPHA:1005
Distal Trisomy 6P
Fine hair, Abnormal eyelash morphology, Abnormal hair quantity ORPHA:1745
Holocarboxylase Synthetase Deficiency
Alopecia ORPHA:79242
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Supernumerary nipple ORPHA:3224
2Q32Q33 Microdeletion Syndrome
Fine hair, Sparse hair ORPHA:251019
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Dyskeratosis Congenita, Autosomal Dominant 3
Fine hair, Alopecia, Nail dysplasia, Reticulated skin pigmentation, Premature graying of hair OMIM:613990
Hall-Riggs Syndrome
Slow-growing hair, Coarse hair, Thick hair ORPHA:2107
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Multiple rows of eyelashes, Curly eyelashes, Curly hair, Nail dysplasia, Thick eyebrow, Low poste... ORPHA:163654
Leopard Syndrome 3
Low posterior hairline, Curly hair, Multiple lentigines, Few cafe-au-lait spots OMIM:613707
Monosomy 18P
Low posterior hairline, Alopecia ORPHA:1598
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia OMIM:615559
Bresek Syndrome
Alopecia ORPHA:85284
Mucoepithelial Dysplasia, Hereditary
Chronic monilial nail infection, Nail dystrophy, Alopecia, Coarse hair, Nail dysplasia OMIM:158310
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Patchy alopecia, Multiple cafe-au-lait spots ORPHA:85279
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Noonan Syndrome 5
Fine hair, Small nail, Sparse eyebrow, Curly hair, Multiple lentigines, Cafe-au-lait spot OMIM:611553
Satoyoshi Syndrome
Alopecia universalis, Abnormal hair morphology, Sparse or absent eyelashes ORPHA:3130
Focal Dermal Hypoplasia
Linear hyperpigmentation, Hypoplastic nipples, Absent toenail, Brittle hair, Nail dystrophy, Reti... OMIM:305600
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Nail dystrophy, Alopecia, Hyperpigmentation of the skin OMIM:175500
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Nail dystrophy, Alopecia, Absent eyebrow, Absent eyelashes, Nail dysplasia, Hypohidrosis OMIM:308205
Hemochromatosis, Type 1
Hyperpigmentation of the skin, Alopecia OMIM:235200
Noonan Syndrome 9
Curly hair, Sparse eyebrow OMIM:616559
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Fine hair, Alopecia ORPHA:228390
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Omenn Syndrome
Alopecia OMIM:603554
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Sparse body hair, Nail dystrophy, Hyperpigmentation of the skin, Absent eyelash... OMIM:106260
Macs Syndrome
Sparse and thin eyebrow, Sparse hair, Alopecia OMIM:613075
Adrenoleukodystrophy
Hyperpigmentation of the skin, Alopecia OMIM:300100
Gorlin-Chaudhry-Moss Syndrome
Coarse hair, Low anterior hairline, Generalized hirsutism, Patent ductus arteriosus ORPHA:2095
Bartsocas-Papas Syndrome
Aplasia/Hypoplasia of the eyebrow, Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toen... ORPHA:1234
Mucopolysaccharidosis, Type Iiic
Coarse hair, Hirsutism, Synophrys OMIM:252930
Noonan Syndrome 8
Curly hair, Hyperpigmentation of the skin, Patent ductus arteriosus OMIM:615355
Revesz Syndrome
Fine hair, Nail dystrophy, Fine, reticulate skin pigmentation, Ridged fingernail, Sparse hair, Na... OMIM:268130
Mucopolysaccharidosis, Type Iiid
Thick eyebrow, Coarse hair, Hirsutism, Synophrys OMIM:252940
Fetal Hydantoin Syndrome
Low posterior hairline, Coarse hair, Hypoplastic fingernail ORPHA:1912
Tonne-Kalscheuer Syndrome
Fine hair, Small nail OMIM:300978
Cutis Laxa, Autosomal Recessive, Type Iiib
Fine hair, Sparse hair OMIM:614438
Gomez-Lopez-Hernandez Syndrome
Alopecia OMIM:601853
Renpenning Syndrome 1
Sparse lateral eyebrow, Brittle hair, Sparse hair OMIM:309500
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Holocarboxylase Synthetase Deficiency
Alopecia OMIM:253270
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair OMIM:617360
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dysplasia, Nail dystrophy, Alopecia OMIM:226600
Immunodeficiency, Common Variable, 10
Alopecia totalis, Trachyonychia OMIM:615577
Cartilage-Hair Hypoplasia
Fine hair, Sparse eyelashes, Sparse and thin eyebrow, Sparse hair, Sparse facial hair, Fair hair OMIM:250250
Chondrodysplasia Punctata, Autosomal Dominant
Coarse hair, Sparse hair OMIM:118650
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Dystrophic fingernails, Generalized hyperpigmentation, Dystrophic toenail, Coar... ORPHA:1071
X-Linked Agammaglobulinemia
Hypopigmented skin patches, Alopecia ORPHA:47
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Small nail, Alopecia, Absent eyebrow, Absent eyelashes, Cafe-au-lait spot ORPHA:166035
Mandibuloacral Dysplasia With Type B Lipodystrophy
Nail dystrophy, Alopecia, Abnormal hair morphology, Hyperpigmentation of the skin ORPHA:90154
Ane Syndrome
Hyperpigmentation of the skin, Alopecia, Hyperpigmented nevi ORPHA:157954
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Fine hair, Sparse hair OMIM:616817
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Coarse hair, Sparse eyebrow, Abnormal hair pattern, Scarring alopecia of scalp,... ORPHA:35173
Omenn Syndrome
Aplasia/Hypoplasia of the eyebrow, Alopecia ORPHA:39041
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Nail dystrophy, Alopecia, Vitiligo, Pigmentary retinopathy, Alopecia universalis OMIM:240300
19Q13.11 Microdeletion Syndrome
Fine hair, Sparse lateral eyebrow, Nail dysplasia, Sparse or absent eyelashes, Sparse hair, Super... ORPHA:217346
Incontinentia Pigmenti
Atrophic, patchy alopecia, Fine hair, Hypoplastic nipples, Sparse hair, Ridged nail, Abnormality ... OMIM:308300
Acrodermatitis Enteropathica