Gene Summary

suppression of tumorigenicity 14 (colon carcinoma)
Tmprss14,  MT-SP1,  matriptase,  Prss14,  Epithin

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal embryo size St14tm1.1(KOMP)Vlcg HOM E12.5 0.00
pallor St14tm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal liver size St14tm1.1(KOMP)Vlcg HOM E12.5 0.00
preweaning lethality, complete penetrance St14tm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal placenta size St14tm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal embryo size St14tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal limb bud morphology St14tm1.1(KOMP)Vlcg HOM E12.5 0.00
prenatal lethality prior to heart atrial septation St14tm1.1(KOMP)Vlcg HOM   E15.5 0.00
pale yolk sac St14tm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal eye morphology St14tm1.1(KOMP)Vlcg HOM E12.5 0.00
pale liver St14tm1.1(KOMP)Vlcg HOM E12.5 0.00
embryonic growth retardation St14tm1.1(KOMP)Vlcg HOM E9.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
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)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node 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)
Ovary 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)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve 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)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
N/A Ambiguous
Axial skeleton N/A homozygote 0.0% (0 of 2)
Brain N/A heterozygote Ambiguous
Brain N/A homozygote 0.0% (0 of 3)
N/A Ambiguous
Central nervous system ganglion N/A homozygote 0.0% (0 of 2)
Ear N/A heterozygote Ambiguous
Ear N/A homozygote 0.0% (0 of 3)
Embryo N/A heterozygote Ambiguous
Embryo N/A homozygote 0.0% (0 of 3)
Eye N/A heterozygote Ambiguous
Eye N/A homozygote 0.0% (0 of 3)
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote 0.0% (0 of 3)
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote 0.0% (0 of 3)
Forelimb N/A heterozygote Ambiguous
Forelimb N/A homozygote 0.0% (0 of 3)
N/A Ambiguous
Gut N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote 0.0% (0 of 3)
Head N/A heterozygote Ambiguous
Head N/A homozygote 0.0% (0 of 3)
Heart N/A heterozygote Ambiguous
Heart N/A homozygote 0.0% (0 of 3)
Hindbrain N/A heterozygote Ambiguous
Hindbrain N/A homozygote 0.0% (0 of 3)
Hindlimb N/A heterozygote Ambiguous
Hindlimb N/A homozygote 0.0% (0 of 3)
Liver N/A heterozygote Ambiguous
Liver N/A homozygote 0.0% (0 of 3)
Lung N/A heterozygote Ambiguous
Lung N/A homozygote 0.0% (0 of 3)
Mandibular process N/A heterozygote Ambiguous
Mandibular process N/A homozygote 0.0% (0 of 3)
Maxillary process N/A heterozygote Ambiguous
Maxillary process N/A homozygote 0.0% (0 of 3)
Midbrain N/A heterozygote Ambiguous
Midbrain N/A homozygote 0.0% (0 of 3)
N/A Ambiguous
Nose N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote 0.0% (0 of 3)
N/A Ambiguous
Chorioallantoic placenta N/A homozygote 100% (2 of 2)
N/A Ambiguous
Skeleton N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote Ambiguous
Skin N/A homozygote 0.0% (0 of 3)
N/A Ambiguous
Spinal cord N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote 0.0% (0 of 3)
Tail N/A heterozygote Ambiguous
Tail N/A homozygote 0.0% (0 of 3)
N/A Ambiguous
Trachea N/A homozygote 0.0% (0 of 2)
N/A Ambiguous
Urinary system N/A homozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
placenta Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

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


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Hind Leg and Hip

10 Images

Embryo LacZ

LacZ images wholemount

28 Images

Adult LacZ

LacZ Images Section

16 Images

OPT E9.5

Embryo reconstruction

7 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Forepaw

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Human diseases caused by St14 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 St14 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hyperkerat... OMIM:602400
Ichthyosis-Hypotrichosis Syndrome
Sparse hair, Ichthyosis ORPHA:91132

The table below shows human diseases predicted to be associated to St14 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Acrokeratosis Verruciformis
Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkera... OMIM:101900
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Perifollicular hyperkeratosis, Spars... ORPHA:505
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... OMIM:617571
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis OMIM:617756
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... OMIM:148730
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin OMIM:146590
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis, Scaling skin OMIM:617115
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis ORPHA:464318
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Porokeratosis Plantaris Palmaris Et Disseminata
Pruritus, Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis ORPHA:737
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Porokeratosis ORPHA:735
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism ORPHA:2297
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Hyperkeratosis, Thickened skin ORPHA:1659
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Epidermal acanthosis, Absent facia... ORPHA:90368
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Erythrokeratodermia Variabilis Et Progressiva 4
Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou... OMIM:617526
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Peeling Skin Syndrome 4
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ich... OMIM:607936
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Scaling skin on fingertip, Epidermal acanthosis, Alopecia, Hypergranulosis, Honeyc... ORPHA:79395
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, ... OMIM:607602
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I... ORPHA:79503
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome
Palmoplantar keratoderma, Ichthyosis ORPHA:281201
Palmoplantar Keratoderma, Punctate Type Ii
Porokeratosis, Spinous keratoses of palms and soles OMIM:175860
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy OMIM:616487
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:602723
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Concave nail, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, ... ORPHA:530838
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia ORPHA:69125
Bathing Suit Ichthyosis
Parakeratosis, Alopecia, Epidermal acanthosis, Thickened skin, Erythroderma, Palmoplantar hyperke... ORPHA:100976
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Nail dystrophy OMIM:131850
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera... ORPHA:2722
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... OMIM:620148
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Epidermolytic Hyperkeratosis 1
Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital bullous... OMIM:113800
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N... OMIM:212360
Bazex Syndrome
Parakeratosis, Edema, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Scaling s... ORPHA:166113
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern... ORPHA:79147
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Cutis laxa, Absent pubic hair,... ORPHA:2269
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthy... OMIM:612281
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin, Generalized hirsutism ORPHA:2812
Aquagenic Palmoplantar Keratoderma
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... ORPHA:498359
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sp... OMIM:607903
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis, Epidermal acanthosis ORPHA:199267
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa... OMIM:617294
Ulerythema Ophryogenesis
Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat... ORPHA:3406
Uvula, Bifid
Bifid uvula OMIM:192100
Olmsted Syndrome 2
Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratos... OMIM:619208
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... ORPHA:189
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... OMIM:618546
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis, Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, ... ORPHA:2199
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosifor... OMIM:604777
White Sponge Nevus 2
Hyperparakeratosis, Epidermal acanthosis, Edema OMIM:615785
Erythrokeratodermia Variabilis Et Progressiva 1
Epidermal acanthosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generali... OMIM:133200
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin, Patchy alopecia, Reduced epidermal extracellular matrix protein 1... OMIM:247100
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Palmoplantar hyp... OMIM:300918
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Scaling skin, Nail dystrophy, Spar... OMIM:604536
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Ichthyosis With Confetti
Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital nonbullous ichthyos... OMIM:609165
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Epidermal acanthosis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Leukonychia, ... OMIM:616295
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Alopecia, Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Congeni... OMIM:242300
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... OMIM:158000
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosi... ORPHA:89838
Ichthyosis, Congenital, Autosomal Recessive 8
Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:613943
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... ORPHA:454
Atrophoderma Vermiculata
Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule ORPHA:79100
Moynahan Syndrome
Sparse hair, Hyperkeratosis, Alopecia ORPHA:2574
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic ... OMIM:148700
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar kerato... OMIM:617525
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... OMIM:601952
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis, Epidermal acanthosis, Cutis laxa ORPHA:79148
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... ORPHA:87503
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis OMIM:148600
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Classic Mycosis Fungoides
Alopecia, Skin rash, Eczema, Edema, Pruritus, Splenomegaly, Erythema, Skin ulcer, Hyperkeratosis,... ORPHA:2584
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis ORPHA:79399
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla... ORPHA:312
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Ichthyosis, Congenital, Autosomal Recessive 7
Epidermal acanthosis, Hypergranulosis, Erythroderma, Palmoplantar keratoderma, Ichthyosis OMIM:615022
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... OMIM:224750
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis OMIM:610227
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp... ORPHA:2200
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke... ORPHA:79151
Erythrokeratodermia Variabilis
Alopecia, Skin rash, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, Weig... ORPHA:317
Lymphatic Malformation 4
Hyperkeratosis, Toenail dysplasia, Pedal edema, Lymphedema OMIM:615907
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Superficial Epidermolytic Ichthyosis
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Ichthyosis ORPHA:455
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Edema, Acantholysis, Sparse eyebrow, Woolly hair, Palmoplantar hyperk... OMIM:605676
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp, Pustule, Erythem... ORPHA:346
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Erosive Pustular Dermatosis Of The Scalp
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Pustule ORPHA:222
Ichthyosis Prematurity Syndrome
Epidermal acanthosis, Polyhydramnios, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis... OMIM:608649
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Sparse eyebrow, ... OMIM:613102
Cole Disease
Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm... OMIM:615522
Peeling Skin Syndrome 3
Abnormal hair morphology, Erythema, White scaling skin, Pruritus OMIM:616265
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker... ORPHA:79397
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy... OMIM:615821
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Palmoplantar keratoderma, Hypertrichosis OMIM:617524
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo... OMIM:614457
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin, Ichthyosis ORPHA:461
Vulvovaginal Gingival Syndrome
Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema ORPHA:83453
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Gen... ORPHA:2890
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair OMIM:618625
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... ORPHA:79481
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Pruritus, Skin ulcer, Hyperkeratosis, Onycholysis ORPHA:525
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis, Nail dystrophy OMIM:175900
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:615023
Keratoderma Hereditarium Mutilans
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor... ORPHA:494
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... OMIM:614594
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... ORPHA:64745
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Abnormality of the nail, Skin vesicle ORPHA:254478
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Acrokeratoelastoidosis Of Costa
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratoti... ORPHA:38
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ... ORPHA:90280
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hyperkerat... OMIM:602400
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, H... OMIM:242100
Dowling-Degos Disease 4
Pruritus, Epidermal acanthosis, Hypergranulosis OMIM:615696
Darier Disease
Acrokeratosis, Pruritus, Thickened skin, Abnormal hair morphology, Palmoplantar keratoderma, Skin... ORPHA:218
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Dry skin, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Alopecia of scalp OMIM:618373
Tooth Agenesis, Selective, 8
Sparse eyebrow, Dry skin, Sparse hair OMIM:617073
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia, Alopecia of scalp OMIM:136300
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy ORPHA:89843
Ectodermal dysplasia, Dry skin, Nail dysplasia, Trichodysplasia OMIM:125640
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosifor... OMIM:613576
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti ORPHA:1573
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Lamellar Ichthyosis
Pruritus, Erythroderma, Dehydration, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Sparse ... ORPHA:313
Darier-White Disease
Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments OMIM:124200
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis OMIM:615735
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... ORPHA:2897
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Edema, Erythema, Urticaria, Telangiectasia macularis eruptiva perstans OMIM:154800
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus, Erythema, Scaling skin, Scleroderma, Morphea ORPHA:90158
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Irida Syndrome
Hyperkeratosis, Pallor, Ichthyosis ORPHA:209981
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis of fingerna... ORPHA:2251
Jessner Lymphocytic Infiltration Of The Skin
Abnormal lymphocyte morphology, Cutaneous photosensitivity, Erythema, Pruritus ORPHA:33314
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Dry skin, Scaling skin, Erythroderma OMIM:609180
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Ectode... OMIM:129490
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Palmoplantar Keratoderma, Epidermolytic, 1
Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm... OMIM:144200
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Hypohidrosis, Fine hair, Abno... ORPHA:248
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Pachyonychia Congenita 1
Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis OMIM:167200
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Hyperkeratosis, Malar rash, Psoriasiform lesion ORPHA:163525
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Dehydration, Decreased circulating antibody level, Skin ul... ORPHA:33355
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Folliculitis, Palm... OMIM:308800
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Acantholysis ORPHA:704
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Eosinophilia, Acantholysis, Facial edema, Pustule, ... ORPHA:293173
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Trichorrhexis n... ORPHA:1010
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle ORPHA:158681
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Hypohidrosis, Palmoplan... OMIM:618535
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop... ORPHA:79153
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Hyperactivity, Eczema, Aggressive behavior, Dry skin, Compulsive behaviors, Attention deficit hyp... OMIM:261600
Sézary Syndrome
Alopecia, Edema, Abnormal immunoglobulin level, Pruritus, Splenomegaly, Palmoplantar keratoderma,... ORPHA:3162
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Anonychia OMIM:616029
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Nail dystrophy, Palmoplantar keratoderma, Lack of skin elasticity ORPHA:1366
Acral Peeling Skin Syndrome
Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin ORPHA:263534
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Sparse eyebrow, Abnormal hair morphology,... ORPHA:634
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Acral Self-Healing Collodion Baby
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... ORPHA:281127
Congenital Ichthyosiform Erythroderma
Alopecia, Pruritus, Erythroderma, Palmoplantar keratoderma, Ichthyosis, Abnormality of the nail ORPHA:79394
Progressive Symmetric Erythrokeratodermia
Erythema, Palmoplantar keratoderma ORPHA:316
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Amyloidosis, Primary Localized Cutaneous, 3
Pruritus, Cutaneous photosensitivity, Dry skin OMIM:617920
Epidermolysis Bullosa, Junctional 1A, Intermediate
Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails OMIM:226650
Sparse scalp hair, Hypohidrosis, Ectodermal dysplasia, Fingernail dysplasia, Trichodysplasia, Dry... ORPHA:1660
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... OMIM:606545
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Pallor ORPHA:46532
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis OMIM:609638
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Microcytic anemia, Dry skin, Cutis laxa, Hyperkeratosis, Dysphagia, Failure to thrive, Hy... OMIM:612379
Basan Syndrome
Palmoplantar keratoderma, Epidermal acanthosis, Nail dystrophy OMIM:129200
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Sparse eyebrow, Onychogryposis of toenails, Wide nasal bridge, Hypohidrosis, Ectodermal dysplasia... OMIM:600906
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Perifolliculitis, Alopecia of scalp OMIM:260910
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Abnormal immunoglobuli... ORPHA:90159
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s... OMIM:617337
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Follicul... OMIM:612843
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa... OMIM:129500
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa ORPHA:228240
Keratosis Pilaris Atrophicans
Absent eyelashes, Erythema, Sparse eyebrow OMIM:604093
Acute Radiation Syndrome
Hyperkeratosis, Inflammatory abnormality of the skin, Scaling skin, Skin ulcer ORPHA:454831
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Hydroa Vacciniforme
Hydroa vacciniforme, Telangiectasia of the skin, Superficial dermal perivascular inflammatory inf... ORPHA:330058
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Complex Regional Pain Syndrome
Abnormality of hair growth, Edema of the upper limbs, Slow-growing nails, Erythema, Pedal edema, ... ORPHA:83452
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair ORPHA:1883
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Alopecia, Epidermal acanthosis, Sparse eyelashes, Thick hair, Pruritus, Sparse eye... OMIM:607626
Transaldolase Deficiency
Edema, Thrombocytopenia, Hydrops fetalis, Hepatosplenomegaly, Telangiectasia, Premature skin wrin... ORPHA:101028
Vibratory Urticaria
Urticaria, Flushing, Facial erythema OMIM:125630
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Dermatitis, Atopic
Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Dry skin OMIM:603165
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Recurrent loss of toenails and fingernails, Erythema, Crusting erythematous dermatitis, Palmoplan... ORPHA:158673
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Death in infancy, Brittle hair, Small for gestational age, Trich... OMIM:601675
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Follicular hyperkeratosis OMIM:615147
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Death in infancy, Erythema OMIM:219095
Kerion Celsi
Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ... ORPHA:499
Ichthyosis Vulgaris
Eczematoid dermatitis, Dry skin OMIM:146700
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Prematurely aged appearance, Dry skin, Low posterior hairline, Premature ... ORPHA:2617
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Omenn Syndrome
Alopecia, Eosinophilia, Edema, Pruritus, Splenomegaly, Leukocytosis, Thyroiditis, Dry skin, Anemi... ORPHA:39041
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry... ORPHA:1028
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Fragile nails, Perioral erythema, Ichthyosis OMIM:248300
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Erythroderma, ... OMIM:615508
Familial Cold Urticaria
Pruritus, Erythema, Dehydration, Hyperhidrosis, Urticaria, Polydipsia ORPHA:47045
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Lymphopenia, Cutis marmorata, Skin rash, Increased circulating IgA... OMIM:615934
Peeling Skin Syndrome 1
Brittle hair, Eosinophilia, Pruritus, Onycholysis, Scaling skin, Nail dystrophy, Erythroderma OMIM:270300
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Odontoonychodermal Dysplasia
Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Hyperhidrosis, Dystrophic fingernails, Thin n... OMIM:257980
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Recurrent skin infections, Eosinophilia, Eczema, Pruritus, Increased circulating IgE le... OMIM:618282
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Congenital Lethal Erythroderma
Death in infancy, Congenital exfoliative erythroderma, Dry skin, Urticaria, Failure to thrive ORPHA:1954
Prolidase Deficiency
Abnormal fingernail morphology, Pruritus, Splenomegaly, Erythema, Low anterior hairline, Crusting... ORPHA:742
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Sjögren-Larsson Syndrome
Hyperkeratosis, Erythema, Dry skin, Ichthyosis ORPHA:816
Hereditary Mucoepithelial Dysplasia
Sparse hair, Hyperkeratosis, Alopecia, Fine hair ORPHA:1839
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail OMIM:181600
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema ORPHA:90160
Macroglossia OMIM:153630
Cutaneous Mastocytoma
Telangiectasia of the skin, Maculopapular exanthema, Pruritus, Angioedema, Erythema, Darier's sig... ORPHA:79455
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Cleft palate, Abnormality of the dentition ORPHA:3104
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Pruritus, Palmoplantar keratoderma, Scaling skin, Follicu... ORPHA:158668
Transgrediens Et Progrediens Palmoplantar Keratoderma
Recurrent bacterial skin infections, Plantar hyperkeratosis, Hyperconvex nail, Diffuse palmoplant... ORPHA:495
Anonychia With Flexural Pigmentation
Anonychia, Dry skin OMIM:106750
Ataxia-Photosensitivity-Short Stature Syndrome
Urticaria, Cutaneous photosensitivity, Dry skin ORPHA:1184
Cutaneous Small Vessel Vasculitis
Skin rash, Cutis marmorata, Recurrent skin infections, Erythema, Urticaria, Purpura ORPHA:889
Ramon Syndrome
Hyperkeratosis, Generalized hirsutism ORPHA:3019
Pachyonychia Congenita
Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex... ORPHA:2309
Proteus Syndrome
Hyperkeratosis, Epidermal acanthosis OMIM:176920
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Acantholysis, Pruritus, Pustule, Skin vesicl... ORPHA:555905
Lipoid Proteinosis
Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp ORPHA:530
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Alopecia, Inflammatory abnormality of the skin, Lack of faci... ORPHA:90156
Huriez Syndrome
Lack of skin elasticity, Palmoplantar keratoderma, Small nail, Dry skin, Abnormality of the nail ORPHA:384
Trichothiodystrophy 6, Nonphotosensitive
Brittle hair, Small for gestational age, Slow-growing hair, Tiger tail banding, Dry skin OMIM:616943
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis... ORPHA:280779
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Hyperkeratosis OMIM:620014
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin ORPHA:2271
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis,... OMIM:610768
Premature skin wrinkling, Progeroid facial appearance OMIM:221790
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Chronic Hiccup
Abnormal eating behavior, Dehydration, Weight loss ORPHA:396
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Toenail dysplasia, Pedal edema, Hyperkeratosis, ... ORPHA:79452
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Pustule, Erythema, Nail dystrophy OMIM:614204
Congenital Heart Defects And Ectodermal Dysplasia
Medial flaring of the eyebrow, Sparse scalp hair, Attention deficit hyperactivity disorder, High ... OMIM:617364
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal edema, Angioedema, Eryth... ORPHA:100057
Harlequin Ichthyosis
Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis ORPHA:457
Small for gestational age, Abnormality of subcutaneous fat tissue, Edema, Thrombocytopenia, Hydro... ORPHA:79325
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Dry skin, Hypothyroidism OMIM:275120
Uv-Sensitive Syndrome 3
Cutaneous photosensitivity, Dry skin, Telangiectasia OMIM:614640
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Aggressive behavior, Abnormal hair whorl, Synophrys, Increased body weight, Low posterior hairlin... OMIM:300860
Dowling-Degos Disease
Abnormal fingernail morphology, Pruritus, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Ac... ORPHA:79145
Warty Dyskeratoma
Abnormal fingernail morphology, Acrokeratosis, Epidermal thickening, Acantholysis ORPHA:69745
Netherton Syndrome
Hypernatremic dehydration, Sparse scalp hair, Decreased circulating IgG level, Brittle hair, Recu... OMIM:256500
Maculopapular Cutaneous Mastocytosis
Pruritus, Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flu... ORPHA:79457
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Pustule, Increased circulating IgE level, Dehydration, Long eyelashes, Failure to... OMIM:616069
Adiposis Dolorosa
Telangiectasia of the skin, Recurrent skin infections, Sparse axillary hair, Sparse pubic hair, X... ORPHA:36397
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Granuloma... ORPHA:542592
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Epidermal acanthosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans... OMIM:618527
Myoclonic-Astatic Epilepsy
Hyperactivity, Frontal balding, Wide nasal bridge, Attention deficit hyperactivity disorder, Prem... ORPHA:1942
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue OMIM:618732
Keratolytic Winter Erythema
Pustule, Erythema, Hyperhidrosis ORPHA:50943
Meige Disease
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... ORPHA:90186
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis OMIM:114580
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Anorexia, Pustule, Paronychia, Erythema, Dry ... ORPHA:37
Keratolytic Winter Erythema
Erythema, Palmoplantar hyperhidrosis OMIM:148370
Uv-Sensitive Syndrome 1
Cutaneous photosensitivity, Dry skin, Telangiectasia OMIM:600630
Sydenham Chorea
Erythema, Inappropriate behavior, Compulsive behaviors ORPHA:306731
Pemphigus Erythematosus
Malar rash, Acantholysis ORPHA:79480
Naxos Disease
Subungual hyperkeratosis, Curly hair, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse... OMIM:601214
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Thick hair, Edema, Large for gestational age, Polyhydramnios, Perica... ORPHA:363705
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... OMIM:614450
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency, Dysphagia OMIM:617732
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Eczema, Xerostomia, Dry skin, Hypohidrosis, Aplasia/Hy... ORPHA:238468
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo... ORPHA:158687
Leopard Syndrome 3
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Dry skin OMIM:613707
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperke... OMIM:615225
Atelis Syndrome 1
Decreased lymphocyte proliferation in response to anti-CD3, Eczema, Thrombocytopenia, Leukopenia,... OMIM:620184
Bone Marrow Failure Syndrome 4
Eczema, Thrombocytopenia, Decreased circulating antibody level, Leukopenia, Bone marrow hypocellu... OMIM:618116
Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Fine hair, Excessive wrinkle... ORPHA:2500
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Cutis laxa OMIM:614434
Amyloidosis, Primary Localized Cutaneous, 1
Pruritus, Dry skin, Scaling skin OMIM:105250
Combined Oxidative Phosphorylation Deficiency 36
Premature skin wrinkling, Failure to thrive OMIM:617950
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Erythema Of Acral Regions
Erythema OMIM:227000
Familial Melanoma
Abnormal hair morphology, Dry skin ORPHA:618
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Eosinophilia, Erythema, Increased circulating IgE level, Chronic mucocutaneous candidi... OMIM:147060
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Elbow hypertrichosis, Eczema, Aggressive behavior, Pica, Obesity, Long eyelashes, Dry skin OMIM:620191
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Dermatitis Herpetiformis
Eczema, Edema, Microcytic anemia, Pruritus, Erythema, Urticaria, Skin vesicle ORPHA:1656
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... OMIM:616099
Autosomal Erythropoietic Protoporphyria
Eczema, Edema, Microcytic anemia, Pruritus, Erythema, Cutaneous photosensitivity ORPHA:79278
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Palpebral edema, Nonimmune hydrops fetalis, Sparse e... OMIM:137940
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Polyhydramnios, Large for gestational age, A... OMIM:619075
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Rosaï-Dorfman Disease
Erythema, Dysgammaglobulinemia, Anemia ORPHA:158014
Hatipoglu Immunodeficiency Syndrome
Anhidrosis, Failure to thrive, Pancytopenia, Eczema, Poor wound healing, Atopic dermatitis, Dry s... OMIM:620331
Primary Erythromelalgia
Pruritus, Leukemia, Erythema ORPHA:90026
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Pancytopenia, Impaired T cell function, Splenomegaly, Patent ductus arteriosus,... OMIM:614576
Radio-Tartaglia Syndrome
Thick eyebrow, Highly arched eyebrow, Long eyebrows, Aggressive behavior, Impulsivity, Synophrys,... OMIM:619312
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin OMIM:218650
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Erythema ORPHA:36237
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Chronic Mucocutaneous Candidiasis
Skin rash, Abnormal fingernail morphology, Pruritus, Erythema, Broad nail, Skin ulcer, Hyperkerat... ORPHA:1334
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Aicardi-Goutieres Syndrome 5
Chilblains, Dry skin, Scaling skin, Thrombocytopenia OMIM:612952
Jung Syndrome
Dry skin, Hypothyroidism, Wide nasal bridge, Low posterior hairline ORPHA:2321
Hartnup Disorder
Hyperactivity, Glossitis, Attention deficit hyperactivity disorder OMIM:234500
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis ORPHA:300179
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Pustule, Paronychia, Increased circulating IgE level, Perioral erythema, Eryth... OMIM:614328
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Absent eyelashes,... OMIM:614941
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Perianal erythema, Impaired T cell function, Splenomegaly, Paronychia, Dry ski... OMIM:201100
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Thickened skin, Erythema, Skin ulcer, Palmoplantar kera... ORPHA:659
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Erythema Palmare Hereditarium