Gene Summary

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

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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 Not available
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 Not available
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 Not available
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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood 0.0%
bone marrow 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
chest bone Unavailable
colon 9.6% (12 of 125)
diaphragm 0.0%
duodenum 1.63% (2 of 123)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.35% (2 of 566)
hindlimb 0.0%
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
ileum 9.68% (12 of 124)
jejunum 4.84% (6 of 124)
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node 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)
parathyroid gland 0.18% (1 of 546)
parotid gland 0.0%
penis 0.0%
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)
quadriceps 0.0%
sciatic nerve 0.0%
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)
stomach pyloric region 0.0%
striatum 0.53% (3 of 567)
sublingual gland 0.0%
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
tongue 3.25% (4 of 123)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.03% (15 of 372)
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)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
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)
gut 1.69% (1 of 59)
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)
placenta 16.67% (7 of 42)
skeleton 1.28% (1 of 78)
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)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

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 Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

28 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Adult LacZ

LacZ Images Section

16 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

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
phenotypes
Matching phenotypes Source
Ichthyosis, Congenital, Autosomal Recessive 11
Brittle hair, Curly hair, Pili torti, Hyperkeratosis, Sparse and thin eyebrow, Sparse hair, Conge... 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
phenotypes
Matching phenotypes Source
Acrokeratosis Verruciformis
Ridged nail, Acrokeratosis, Epidermal acanthosis, Hyperkeratosis OMIM:101900
Geographic And Fissured Tongue
Geographic tongue, Furrowed tongue OMIM:137400
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Alopecia, Sparse scalp hair, Sparse pubic hair, Perifollicular hyperkeratosis, Sparse a... ORPHA:505
Cole Disease
Hypergranulosis, Epidermal acanthosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:615522
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Pruritus, Erythema, Hyperkeratosis, Scaling skin OMIM:617571
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis OMIM:146750
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperke... OMIM:148730
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Epidermal acanthosis, Hyperkeratosis OMIM:615028
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Palmoplantar Keratoderma, Nagashima Type
Hypergranulosis, Orthokeratotic hyperkeratosis, Epidermal acanthosis OMIM:615598
Peeling Skin Syndrome 5
Epidermal acanthosis, Hyperkeratosis OMIM:617115
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617574
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Fine hair, Alopecia of scalp, Pruritus, Parakeratosis, Slow-growing scalp hair... ORPHA:90368
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin, Epidermal acanthosis ORPHA:464318
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Porokeratosis Of Mibelli
Pruritus, Porokeratosis, Hyperkeratosis ORPHA:735
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis ORPHA:737
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Hyperkeratosis ORPHA:2297
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Congenital ichthyosiform erythroderma, Hyperkeratosis OMIM:270220
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Dry skin, Cutis laxa, Alopecia of scalp, Absent pubic hair, Sparse e... ORPHA:2269
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Palmoplantar keratoderma, Epidermal acanthosis OMIM:615735
Keratoderma Hereditarium Mutilans With Ichthyosis
Nail dystrophy, Palmoplantar keratoderma, Alopecia, Generalized ichthyosis, Parakeratosis, Hyperg... ORPHA:79395
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Erythrokeratodermia Variabilis Et Progressiva 3
Palmoplantar keratoderma, Erythema, Hypergranulosis, Hyperkeratosis, Epidermal acanthosis OMIM:617525
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Ichthyosis Hystrix Of Curth-Macklin
Nail dystrophy, Recurrent skin infections, Ichthyosis, Hyperkeratosis, Diffuse palmoplantar hyper... ORPHA:79503
Peeling Skin Syndrome 4
Nail dystrophy, Palmoplantar keratoderma, Orthokeratosis, Ichthyosis, Hyperkeratosis, Scaling ski... OMIM:607936
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Abnormal... ORPHA:79147
Erythrokeratodermia Variabilis Et Progressiva 4
Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Palmoplantar Keratoderma, Punctate Type Ii
Spinous keratoses of palms and soles, Porokeratosis OMIM:175860
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome
Palmoplantar keratoderma, Ichthyosis ORPHA:281201
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Psoriasis 2
Psoriasiform dermatitis, Parakeratosis, Hyperkeratosis, Scaling skin, Epidermal acanthosis OMIM:602723
Anonychia With Flexural Pigmentation
Alopecia of scalp, Abnormal hair morphology, Follicular hyperkeratosis, Hyperkeratosis, Anonychia ORPHA:69125
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Dry skin, Erythema, Concave nail, Scaling skin, Nonepidermolytic palmoplantar ... ORPHA:530838
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Nail dystrophy, Hyperkeratosis OMIM:131850
Bathing Suit Ichthyosis
Erythroderma, Thickened skin, Alopecia, Nail dystrophy, Parakeratosis, Congenital nonbullous icht... ORPHA:100976
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse and thin eyebrow, Palmoplantar keratoderma, Alopecia, Hypoplastic toenails, Abnormal finge... ORPHA:2722
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Epidermolytic Hyperkeratosis
Erythroderma, Congenital bullous ichthyosiform erythroderma, Scaling skin, Palmoplantar hyperkera... OMIM:113800
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Bazex Syndrome
Acanthosis nigricans, Pruritus, Edema, Palmoplantar keratoderma, Nail dystrophy, Yellow nails, Pa... ORPHA:166113
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Alopecia totalis, Sclerodactyly, Nail dysplasia, Facial erythema, Hyperkeratosis,... OMIM:212360
Pachyonychia Congenita 4
Nail dystrophy, Palmoplantar keratoderma, Hyperkeratosis OMIM:615728
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Onycholysis, Palmoplantar keratoderma, Leukonychia, Hyperkeratosis, Scaling skin, Epidermal acant... OMIM:616295
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Angioma Serpiginosum, X-Linked
Fine hair, Nail dystrophy, Sparse hair, Hyperkeratosis OMIM:300652
Parana Hard Skin Syndrome
Thickened skin, Generalized hirsutism, Hyperkeratosis ORPHA:2812
Ichthyosis, Congenital, Autosomal Recessive 6
Dry skin, Erythroderma, Palmoplantar keratoderma, Generalized ichthyosis, Parakeratosis, Congenit... OMIM:612281
Hypotrichosis 6
Sparse eyelashes, Pruritus, Brittle hair, Erythema, Follicular hyperkeratosis, Pili torti, Sparse... OMIM:607903
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Orthokeratotic hyperkeratosis, Edema, Palmoplantar keratoderma, Palmar pruritu... ORPHA:498359
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Diffuse palmoplantar... OMIM:617294
Infantile Digital Fibromatosis
Hyperkeratosis, Epidermal acanthosis, Parakeratosis ORPHA:199267
Hidrotic Ectodermal Dysplasia
Sparse eyelashes, Palmoplantar keratoderma, Sparse pubic hair, Sparse hair, Palmoplantar hyperker... ORPHA:189
Olmsted Syndrome 2
Pruritus, Palmoplantar keratoderma, Parakeratosis, Woolly hair, Perioral hyperkeratosis, Hyperker... OMIM:619208
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair, Follicular hyperkeratosis, Congenital nonbullous ichthyosiform ... OMIM:618546
Epidermolytic Palmoplantar Keratoderma
Epidermal hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Ab... ORPHA:2199
White Sponge Nevus 2
Edema, Hyperparakeratosis, Epidermal acanthosis OMIM:615785
Erythrokeratodermia Variabilis Et Progressiva 1
Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis, Generalized hyperkeratosis, Ep... OMIM:133200
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Parakeratosis, Hyperkeratos... OMIM:300918
Ichthyosis With Confetti
Hypertrichosis, Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:609165
Palmoplantar Keratoderma And Congenital Alopecia 1
Epidermal hyperkeratosis, Brittle hair, Palmoplantar keratoderma, Alopecia, Sparse eyebrow, Palmo... OMIM:104100
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema, Hypergranulosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform e... OMIM:613943
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Sparse hair, Palmoplantar hyperkeratosis, Dystrophic fingernails OMIM:604536
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Dystrophic toenail, Absent toenail, Pruritus, Ridged nail, Abnormal toenail morphology, Hyperkera... ORPHA:89838
Monilethrix
Brittle hair, Alopecia, Nail dystrophy, Abnormality of hair texture, Perifollicular hyperkeratosi... OMIM:158000
Atrophoderma Vermiculata
Hyperkeratotic papule, Pruritus, Erythema, Abnormal epidermal morphology, Follicular hyperkeratosis ORPHA:79100
Acquired Ichthyosis
Pruritus, Palmoplantar keratoderma, Erythema, Recurrent skin infections, Ichthyosis, Hyperkeratos... ORPHA:454
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Orthokeratotic hyperkeratosis, Onycholysis, Yellow nails, Nail dystrophy, Palmoplantar keratoderm... OMIM:148700
Moynahan Syndrome
Alopecia, Sparse hair, Hyperkeratosis ORPHA:2574
Ectodermal Dysplasia/Short Stature Syndrome
Nail dystrophy, Epidermal acanthosis, Anonychia, Hyperkeratosis OMIM:616029
Acrokeratosis Verruciformis Of Hopf
Nail dystrophy, Hypergranulosis, Leukonychia, Hyperkeratosis, Punctate palmoplantar hyperkeratosi... ORPHA:79151
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma, Nail dystrophy, Alopecia, Parakeratosis, Nail dysplasia, Sparse hair, Palmoplantar ... OMIM:242300
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa, Epidermal acanthosis ORPHA:79148
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Linear arrays of macular hyperkeratoses in flexural areas, Nail dystrophy, Parakeratosis, Congeni... OMIM:601952
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Pa... ORPHA:87503
Skin Fragility-Woolly Hair Syndrome
Sparse eyelashes, Acantholysis, Nail dystrophy, Palmoplantar keratosis with erythema and scale, A... OMIM:607655
Classic Mycosis Fungoides
Eczema, Pruritus, Edema, Erythema, Alopecia, Abnormal lymphocyte morphology, Splenomegaly, Abnorm... ORPHA:2584
Pierre Robin Syndrome
Cleft palate, Pierre-Robin sequence, Glossoptosis OMIM:261800
Palmoplantar Keratoderma, Punctate Type Ia
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Orthokeratosis, Epidermal acanthosis OMIM:148600
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosif... ORPHA:312
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Nail dystrophy, Palmar hyperkeratosis, Hyperkeratosis, Plantar hyperkeratosis ORPHA:79399
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... OMIM:613736
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma, Palmoplantar keratoderma, Hypergranulosis, Ichthyosis, Epidermal acanthosis OMIM:615022
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyelashes, Erythroderma, Palmoplantar keratoderma, Scarring alopecia of scalp, Absent eyel... OMIM:602540
Monilethrix
Fine hair, Brittle hair, Abnormal eyebrow morphology, Follicular hyperkeratosis, Abnormality of t... ORPHA:573
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Cleft palate, Bifid uvula OMIM:303400
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Circumungual hyperkeratosis, Palmoplantar keratoderma, Gingival hyperke... ORPHA:2200
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis ORPHA:718
Ichthyosis, Congenital, Autosomal Recessive 2
Small nail, Abnormal hair morphology, Thin nail, Palmoplantar keratoderma, Erythema, Alopecia, Hy... OMIM:242100
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Abnormal hair morphology, Cutaneous photosensitivity, Weight ... ORPHA:317
Lymphatic Malformation 4
Lymphedema, Toenail dysplasia, Hyperkeratosis OMIM:615907
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... ORPHA:284426
Congenital Disorder Of Glycosylation, Type If
Dry skin, Scaling skin, Erythroderma, Hyperkeratosis OMIM:609180
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Pustule, Erythema, Scarring alopecia of scalp, Recurrent skin infection... ORPHA:346
Erosive Pustular Dermatosis Of The Scalp
Erythema, Abnormal hair morphology, Pustule, Scarring alopecia of scalp ORPHA:222
Superficial Epidermolytic Ichthyosis
Acantholysis, Edema, Palmoplantar keratoderma, Erythema, Ichthyosis ORPHA:455
Ichthyosis Prematurity Syndrome
Erythroderma, Alopecia of scalp, Pruritus, Polyhydramnios, Follicular hyperkeratosis, Generalized... OMIM:608649
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Follicular hyperkeratosis, Skin vesicle, Leu... OMIM:613102
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Erythema, Scaling skin, Ichthyosis, Hyperkeratosis, Dry skin OMIM:614457
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Nail dystrophy, Palmoplantar keratoderma, Erythema, Parakeratosis, Woolly hair, Fragile... OMIM:615821
Olmsted Syndrome 1
Subungual hyperkeratosis, Pruritus, Nail dystrophy, Palmoplantar keratoderma, Parakeratosis, Nail... OMIM:614594
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Nail dystrophy, Alopecia, Nail dysplasia, Palmar hyperkeratosis, Plantar h... ORPHA:79397
Vulvovaginal Gingival Syndrome
Ridged nail, Pruritus, Erythema, Parakeratosis, Epidermal acanthosis ORPHA:83453
Recessive X-Linked Ichthyosis
Dry skin, Ichthyosis, Hyperkeratosis ORPHA:461
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Hypertrichosis, Palmoplantar keratoderma OMIM:617524
Ulerythema Ophryogenesis
Hyperkeratotic papule, Dry skin, Sparse lateral eyebrow, Acne, Follicular hyperkeratosis, Facial ... ORPHA:3406
Pili Torti-Onychodysplasia Syndrome
Eczema, Brittle hair, Palmoplantar keratoderma, Alopecia, Absent eyelashes, Absent eyebrow, Nail ... ORPHA:2890
Pemphigus Foliaceus
Psoriasiform dermatitis, Erythroderma, Acantholysis, Pustule, Pruritus, Erythema, Scaling skin, C... ORPHA:79481
Keratoderma Hereditarium Mutilans
Alopecia, Abnormal toenail morphology, Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Hyperke... ORPHA:494
Oculotrichodysplasia
Dry skin, Sparse eyelashes, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, General... OMIM:257960
Rothmund-Thomson Syndrome, Type 1
Thin nail, Nail dystrophy, Absent eyebrow, Absent eyelashes, Hyperkeratosis, Sparse hair OMIM:618625
Lichen Planopilaris
Onycholysis, Pruritus, Alopecia, Hyperkeratosis, Abnormal fingernail morphology, Skin ulcer ORPHA:525
Porokeratosis 3, Multiple Types
Nail dystrophy, Porokeratosis, Parakeratosis OMIM:175900
Lichen Planus Pemphigoides
Pruritus, Abnormality of the nail, Skin vesicle, Hyperkeratosis ORPHA:254478
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Stria... ORPHA:64745
Chilblain Lupus
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Malar rash, Skin rash... ORPHA:90280
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:604777
Vohwinkel Syndrome, Variant Form
Hyperkeratosis, Orthokeratosis, Hypergranulosis, Parakeratosis OMIM:604117
Ectodermal Dysplasia-Syndactyly Syndrome 1
Small nail, Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Coarse hair, Pili torti, Absent ... OMIM:613573
Familial Benign Chronic Pemphigus
Erythema, Acantholysis, Skin vesicle, Hyperkeratosis ORPHA:2841
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Sparse eyelashes, Alopecia, Parakeratosis, Orthokeratosis, Thick hair, Ichthyosis, Dry skin, Spar... OMIM:607626
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Hypergranulosis, Orthokeratosis, Palmoplantar hyperkeratosis, Epidermal ac... ORPHA:38
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Hypergranulosis, O... OMIM:615508
Tooth Agenesis, Selective, 8
Dry skin, Sparse hair, Sparse eyebrow OMIM:617073
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
Congenital bullous ichthyosiform erythroderma, Erythema, Palmoplantar hyperkeratosis, Ichthyosis OMIM:607602
Pierre Robin Sequence With Facial And Digital Anomalies
Cleft palate, Pierre-Robin sequence, Glossoptosis OMIM:311895
Ichthyosis, Congenital, Autosomal Recessive 3
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Erythema, Hyperkeratosis OMIM:606545
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Ichthyosis, Congenital, Autosomal Recessive 11
Brittle hair, Curly hair, Pili torti, Hyperkeratosis, Sparse and thin eyebrow, Sparse hair, Conge... OMIM:602400
Dermoodontodysplasia
Dry skin, Nail dysplasia, Ectodermal dysplasia, Trichodysplasia OMIM:125640
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp, Hyperkeratosis OMIM:136300
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Nail dystrophy, Abnormal toenail morphology, Hyperkeratosis ORPHA:89843
Darier Disease
Abnormal hair morphology, Pruritus, Subungual hyperkeratotic fragments, Palmoplantar keratoderma,... ORPHA:218
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Brittle hair, Pili torti, Hyperkeratosis, Sparse scalp hair ORPHA:1573
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, D... ORPHA:3361
Ectodermal Dysplasia-Syndactyly Syndrome 2
Congenital bullous ichthyosiform erythroderma, Follicular hyperkeratosis, Palmoplantar keratoderm... OMIM:613576
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Darier-White Disease
Acantholysis, Ridged nail, Pruritus, Subungual hyperkeratotic fragments, Acrokeratosis OMIM:124200
Lamellar Ichthyosis
Erythroderma, Pruritus, Lack of skin elasticity, Ichthyosis, Abnormality of the nail, Hyperkerato... ORPHA:313
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis OMIM:173200
Peeling Skin Syndrome 1
Onycholysis, Pruritus, Brittle hair, Erythema, Abnormality of hair texture, Increased circulating... OMIM:270300
Mastocytosis, Cutaneous
Edema, Erythema, Urticaria, Telangiectasia macularis eruptiva perstans, Cutaneous mastocytosis OMIM:154800
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Nail dystrophy, Palmoplantar keratoderma, Alopecia OMIM:618373
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis OMIM:167200
Hidrotic Ectodermal Dysplasia, Halal Type
Abnormal fingernail morphology, Absent eyebrow, Absent eyelashes, Follicular hyperkeratosis, Nail... ORPHA:1809
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus, Erythema, Morphea, Scaling skin, Scleroderma ORPHA:90158
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Congenital ichthyosiform erythroderma, Epidermal acanthosis OMIM:615023
Pityriasis Rubra Pilaris
Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Thickened skin, Palmoplantar k... ORPHA:2897
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Cleft palate, Glossoptosis ORPHA:3104
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Erythema, Diffuse palmoplantar hyperkeratosis, Skin ulcer ORPHA:2337
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Folliculitis, Dystrophic fingernails, Palmoplantar keratoderma, Scarring alopec... OMIM:308800
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Hypohidrosis, Dry ski... ORPHA:248
Jessner Lymphocytic Infiltration Of The Skin
Pruritus, Erythema, Cutaneous photosensitivity, Abnormal lymphocyte morphology ORPHA:33314
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Nail dystrophy, Plantar hyperkeratosis OMIM:616487
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Fine hair, Sparse eyelashes, Ectodermal dysplasia, Nail dysplasia, Hypohidrosis, Slow-growing hai... OMIM:129490
Palmoplantar Keratoderma, Epidermolytic
Palmoplantar hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis, Localized epidermolyt... OMIM:144200
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Fingernail dysplasia, Palmoplantar keratoderma, Alopecia, Ridged fi... ORPHA:2251
Hypotrichosis 4
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair OMIM:146550
Irida Syndrome
Pallor, Ichthyosis, Hyperkeratosis ORPHA:209981
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Sparse eyelashes, Absent hair, Ridged nail, Nail dystrophy, Palmoplantar keratoderma, Sparse eyeb... ORPHA:1010
Reticular Dysgenesis
Leukopenia, Failure to thrive, Weight loss, Decreased circulating antibody level, Anemia, Abnorma... ORPHA:33355
Hypotrichosis Simplex
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... ORPHA:55654
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp OMIM:610753
Idiopathic Trachyonychia
Atopic dermatitis, Circumungual hyperkeratosis, Ridged nail, Thin nail, Nail dystrophy, Fingernai... ORPHA:79153
Pilodental Dysplasia With Refractive Errors
Brittle hair, Follicular hyperkeratosis, Brittle scalp hair, Abnormality of the nail, Sparse scal... OMIM:262020
Pemphigus Vulgaris
Acantholysis, Recurrent cutaneous abscess formation ORPHA:704
Sézary Syndrome
Erythroderma, Abnormal immunoglobulin level, Edema, Alopecia, Nail dystrophy, Palmoplantar kerato... ORPHA:3162
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Pruritus, Erythema migrans, Skin vesicle, Parakeratosis ORPHA:158681
Porokeratosis
Pruritus, Hyperkeratosis ORPHA:79358
Acral Self-Healing Collodion Baby
Erythema, Localized epidermolytic hyperkeratosis, Lack of skin elasticity, Edema of the dorsum of... ORPHA:281127
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Nail dystrophy, Acne inversa, Orthokeratosis, Hyperkeratosis, Hypoplastic sweat glands OMIM:617337
Acral Peeling Skin Syndrome
Eczema, Erythema, Ichthyosis, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Palmoplantar keratoderma, Lack of skin elasticity, Alopecia totalis ORPHA:1366
Dermoodontodysplasia
Fingernail dysplasia, Ectodermal dysplasia, Hypohidrosis, Dry skin, Sparse scalp hair, Trichodysp... ORPHA:1660
Alopecia Areata 1
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Hypertrichosis, Cutis laxa, Ichthyosis, Hyperkeratosis OMIM:612379
Netherton Syndrome
Fine hair, Eczema, Sparse eyelashes, Abnormal hair morphology, Erythroderma, Decreased circulatin... ORPHA:634
Progressive Symmetric Erythrokeratodermia
Erythema, Palmoplantar keratoderma ORPHA:316
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Erythroderma, Nail dystrophy, Alopecia, Absent eyebrow, Absent eyelashes, Follicular hyperkeratos... OMIM:308205
Hypotrichosis 5
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair OMIM:612841
Congenital Non-Bullous Ichthyosiform Erythroderma
Erythroderma, Pruritus, Palmoplantar keratoderma, Alopecia, Ichthyosis, Abnormality of the nail ORPHA:79394
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Pallor, Splenomegaly ORPHA:46532
Basan Syndrome
Nail dystrophy, Palmoplantar keratoderma, Epidermal acanthosis OMIM:129200
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level, Erythema, Reduced subcutaneo... ORPHA:90159
Odontoonychodermal Dysplasia
Fine hair, Anonychia, Dry hair, Dystrophic fingernails, Dystrophic toenail, Sparse body hair, Ery... OMIM:257980
Dowling-Degos Disease 4
Hypergranulosis, Epidermal acanthosis OMIM:615696
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia of scalp, Alopecia OMIM:260910
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Sparse eyelashes, Folliculitis, Nail dystrophy, Palmoplantar keratoderma, Alopecia, Scarring alop... OMIM:612843
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis, Alopecia totalis, Absent fingernail, Alopecia universalis, Anonychia OMIM:609638
Clouston Syndrome
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... OMIM:129500
Elastoderma
Premature skin wrinkling, Eczema, Cutis laxa, Erysipelas ORPHA:228240
Schöpf-Schulz-Passarge Syndrome
Aplasia/Hypoplasia of the eyebrow, Palmoplantar keratoderma, Sparse hair, Alopecia ORPHA:50944
Hypotrichosis 11
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... OMIM:615059
Trichodysplasia-Xeroderma
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... OMIM:190360
Amyloidosis, Primary Localized Cutaneous, 3
Dry skin, Pruritus OMIM:617920
Keratosis Pilaris Atrophicans
Erythema, Sparse eyebrow, Absent eyelashes OMIM:604093
Dermatitis, Atopic
Atopic dermatitis, Eczema, Pruritus, Recurrent skin infections, Facial erythema, Dry skin, Pallor OMIM:603165
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Coarse hair, Sparse hair, Hyperkeratosis ORPHA:1883
Vibratory Urticaria
Urticaria, Flushing, Facial erythema OMIM:125630
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Leukonychia ORPHA:2698
Transaldolase Deficiency
Telangiectasia, Edema, Anemia, Hepatosplenomegaly, Premature skin wrinkling, Thrombocytopenia, Hy... ORPHA:101028
Rare Cutaneous Lupus Erythematosus
Facial edema, Maculopapular exanthema, Leukonychia, Onycholysis, Discoid lupus rash, Erythema, Na... ORPHA:535
Complex Regional Pain Syndrome
Slow-growing nails, Abnormality of hair growth, Erythema, Edema of the upper limbs, Dry skin, Ped... ORPHA:83452
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Microcephalic Primordial Dwarfism, Montreal Type
Alopecia of scalp, Abnormal hair quantity, Prematurely aged appearance, Hyperhidrosis, Dry skin, ... ORPHA:2617
Mednik Syndrome
Ichthyosis, Hyperkeratosis ORPHA:171851
Alopecia Universalis
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes ORPHA:701
Cutaneous Photosensitivity And Colitis, Lethal
Death in infancy, Early cutaneous photosensitivity, Erythema OMIM:219095
Ichthyosis Vulgaris
Dry skin, Eczematoid dermatitis OMIM:146700
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Alopecia, Recurrent cutaneous ab... ORPHA:499
Omenn Syndrome
Leukocytosis, Eosinophilia, Erythroderma, Failure to thrive, Pruritus, Edema, Alopecia, Abnormal ... ORPHA:39041
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Telangiectasia, Dystrophic fingernails, Cutaneous photosensitivity, Dystrophic toenail, Palmoplan... ORPHA:158673
Familial Cold Urticaria
Polydipsia, Pruritus, Erythema, Urticaria, Hyperhidrosis, Dehydration ORPHA:47045
Mal De Meleda
Perioral erythema, Congenital symmetrical palmoplantar keratosis, Fragile nails, Ichthyosis OMIM:248300
Macroglossia
Macroglossia OMIM:153630
Huriez Syndrome
Nail dystrophy, Small nail, Congenital palmoplantar hyperkeratosis, Epidermal acanthosis OMIM:181600
Familial Keratoacanthoma
Skin ulcer, Hyperkeratosis ORPHA:493
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin, Erythema, Reduced subcutaneous adipose tissue ORPHA:90160
Amelo-Onycho-Hypohidrotic Syndrome
Fine hair, Onycholysis, Hyperkeratosis, Hypoplastic toenails, Dry skin, Abnormal fingernail morph... ORPHA:1028
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Dry skin, Edema, Decreased body weight, Eczema OMIM:612947
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Congenital Lethal Erythroderma
Death in infancy, Failure to thrive, Urticaria, Dry skin, Congenital exfoliative erythroderma ORPHA:1954
Sting-Associated Vasculopathy, Infantile-Onset
Telangiectasia, Thrombocytosis, Pustule, Leukopenia, Increased circulating IgA level, Failure to ... OMIM:615934
Hereditary Mucoepithelial Dysplasia
Fine hair, Alopecia, Sparse hair, Hyperkeratosis ORPHA:1839
Cutaneous Mastocytoma
Peau d'orange, Angioedema, Pruritus, Erythema, Telangiectasia of the skin, Dermatographic urticar... ORPHA:79455
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Sjögren-Larsson Syndrome
Dry skin, Erythema, Ichthyosis, Hyperkeratosis ORPHA:816
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Pruritus, Nail dystrophy, Palmoplantar keratoderma, Follicular hyperkeratosis, Recur... ORPHA:158668
Anonychia With Flexural Pigmentation
Dry skin, Anonychia OMIM:106750
Prolidase Deficiency
Hirsutism, Cutaneous photosensitivity, Low anterior hairline, Pruritus, Erythema, Palmoplantar ke... ORPHA:742
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Smooth philtrum, Protruding tongue, Open mouth OMIM:618732
Ramon Syndrome
Generalized hirsutism, Hyperkeratosis ORPHA:3019
Cutaneous Small Vessel Vasculitis
Erythema, Urticaria, Cutis marmorata, Recurrent skin infections, Purpura, Skin rash ORPHA:889
Transgrediens Et Progrediens Palmoplantar Keratoderma
Dystrophic fingernails, Dystrophic toenail, Hyperconvex nail, Recurrent cutaneous fungal infectio... ORPHA:495
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Failure to thrive, Edema, Long eyelashes, Dehydration OMIM:616069
Ataxia-Photosensitivity-Short Stature Syndrome
Dry skin, Urticaria, Cutaneous photosensitivity ORPHA:1184
Immunodeficiency 55
Dry skin, Eczema, Recurrent skin infections, Neutropenia OMIM:617827
Palmoplantar Carcinoma, Multiple Self-Healing
Nail dystrophy, Palmoplantar keratoderma, Parakeratosis, Follicular hyperkeratosis, Epidermal aca... OMIM:615225
Psoriasis 14, Pustular
Psoriasiform dermatitis, Pustule, Nail dystrophy, Erythema, Parakeratosis, Epidermal acanthosis OMIM:614204
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Patchy alopecia OMIM:247100
Proteus Syndrome
Epidermal acanthosis, Hyperkeratosis OMIM:176920
Huriez Syndrome
Small nail, Palmoplantar keratoderma, Lack of skin elasticity, Abnormality of the nail, Dry skin ORPHA:384
Retinohepatoendocrinologic Syndrome
Degenerative liver disease, Pallor OMIM:268040
Netherton Syndrome
Erythroderma, Angioedema, Failure to thrive, Decreased circulating IgG level, Hypernatremic dehyd... OMIM:256500
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lack of facial subcutaneous fat, Lymphadenitis, Erythema, A... ORPHA:90156
Lipoid Proteinosis
Alopecia of scalp, Pustule, Thickened skin, Acne, Hyperkeratosis ORPHA:530
Cutaneous Collagenous Vasculopathy
Diffuse telangiectasia, Petechiae, Vascular skin abnormality, Pruritus, Erythema, Prominent super... ORPHA:280779
Milroy Disease
Lymphedema, Hyperkeratosis, Pedal edema, Erysipelas, Toenail dysplasia, Predominantly lower limb ... ORPHA:79452
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Palmoplantar keratoderma, Erythroderma, Congenital ichthyosiform erythroderma OMIM:615024
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin ORPHA:2271
Trichothiodystrophy 1, Photosensitive
Fine hair, Telangiectasia, Tiger tail banding, Small nail, Erythroderma, Cutaneous photosensitivi... OMIM:601675
Pachyonychia Congenita 2
Dry hair, Folliculitis, Subungual hyperkeratosis, Nail dystrophy, Sparse and thin eyebrow, Nail d... OMIM:167210
Iga Pemphigus
Pustule, Acantholysis, Pruritus, Neutrophilic infiltration of the skin, Eosinophilia, Cutaneous a... ORPHA:555905
Maculopapular Cutaneous Mastocytosis
Pruritus, Erythema, Dermatographic urticaria, Generalized abnormality of skin, Darier's sign, Flu... ORPHA:79457
Dermatoleukodystrophy
Progeroid facial appearance, Premature skin wrinkling OMIM:221790
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail OMIM:614928
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
Periorbital wrinkles, Long eyelashes, Partial duplication of eyebrows OMIM:227210
Harlequin Ichthyosis
Erythroderma, Ichthyosis, Hyperkeratosis, Dehydration, Congenital ichthyosiform erythroderma ORPHA:457
Phenylketonuria
Dry skin, Eczema, Fair hair OMIM:261600
Uv-Sensitive Syndrome 3
Dry skin, Telangiectasia, Cutaneous photosensitivity OMIM:614640
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Small for gestational age, Brittle hair, Slow-growing hair, Dry skin OMIM:616943
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Warty Dyskeratoma
Epidermal thickening, Acrokeratosis, Abnormal fingernail morphology, Acantholysis ORPHA:69745
Thyrotropin-Releasing Hormone Deficiency
Dry skin, Hypothalamic hypothyroidism, Hypothyroidism OMIM:275120
Chronic Hiccup
Weight loss, Dehydration, Abnormal eating behavior ORPHA:396
Craniofaciofrontodigital Syndrome
Cutis laxa, Pericardial effusion, Palmoplantar cutis laxa, Hypertrichosis, Low anterior hairline,... ORPHA:363705
Alg8-Cdg
Cutis laxa, Ascites, Small for gestational age, Failure to thrive, Edema, Anemia, Abnormality of ... ORPHA:79325
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Dry hair, Sparse hair, Coarse hair, Onychogryposis of toenails, Plantar hyperkeratosis OMIM:164680
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Erythema, Telangiectasia of the skin, Abnormality of neutro... ORPHA:542592
Meige Disease
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Recurrent bacter... ORPHA:90186
Popov-Chang syndrome
Long nose, Failure to thrive, Decreased circulating antibody level, Coarse hair, Lymphopenia, Hyp... OMIM:618428
Congenital Heart Defects And Ectodermal Dysplasia
Dry skin, Sparse scalp hair, Fragile nails OMIM:617364
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Pruritus, Dry skin, Cutis laxa OMIM:105250
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased body mass index, Increased T3/T4 ratio, Anemia, Dry skin, Im... OMIM:614450
Uv-Sensitive Syndrome 1
Dry skin, Telangiectasia, Cutaneous photosensitivity OMIM:600630
Dowling-Degos Disease
Hyperkeratotic papule, Pruritus, Acne inversa, Hyperkeratosis, Abnormal fingernail morphology, Sk... ORPHA:79145
Keratolytic Winter Erythema
Erythema, Pustule, Hyperhidrosis ORPHA:50943
Van Der Woude Syndrome 1
Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Bifid uvula OMIM:119300
Keratolytic Winter Erythema
Erythema, Palmoplantar hyperhidrosis OMIM:148370
Mental Retardation, Autosomal Recessive 14
Narrow palate OMIM:614020
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis OMIM:114580
Kid Syndrome
Trichilemmoma, Psoriasiform dermatitis, Sparse eyelashes, Folliculitis, Recurrent cutaneous absce... ORPHA:477
Pachyonychia Congenita
Onychogryposis of fingernail, Fingernail dysplasia, Linear arrays of macular hyperkeratoses in fl... ORPHA:2309
Palmoplantar Keratoderma And Woolly Hair
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Palmoplantar keratoderma, Leukonych... OMIM:616099
Adiposis Dolorosa
Xerostomia, Obesity, Telangiectasia of the skin, Sparse pubic hair, Recurrent skin infections, Hy... ORPHA:36397
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Hypohidrotic Ectodermal Dysplasia
Eczema, Xerostomia, Failure to thrive, Breast aplasia, Generalized hypopigmentation of hair, Tric... ORPHA:238468
Bone Marrow Failure Syndrome 4
Eczema, Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Dr... OMIM:618116
Acrogeria
Fine hair, Excessive wrinkled skin, Telangiectasia of the skin, Prematurely aged appearance, Skin... ORPHA:2500
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Hyperkeratotic papule, Small nail, Pruritus, Nail dystrophy, Abnormal toenail morphology, Abnorma... ORPHA:79410
Leopard Syndrome 3
Epidermal hyperkeratosis, Curly hair, Hyperkeratosis, Dry skin, Low posterior hairline OMIM:613707
Lethal Acantholytic Erosive Disorder
Congenital alopecia totalis, Acantholysis, Absent hair, Absent toenail, Absent eyebrow, Absent ey... ORPHA:158687
Familial Melanoma
Dry skin, Abnormal hair morphology ORPHA:618
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Dysphagia, Velopharyngeal insufficiency OMIM:617732
Pemphigus Erythematosus
Malar rash, Acantholysis ORPHA:79480
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Congenital alopecia totalis, Alopecia universalis OMIM:104130
Pachyonychia Congenita 3
Chapped lip, Nail dystrophy, Palmoplantar keratoderma, Palmar hyperkeratosis, Hyperkeratosis, Ony... OMIM:615726
Autosomal Erythropoietic Protoporphyria
Eczema, Cutaneous photosensitivity, Pruritus, Edema, Erythema, Microcytic anemia ORPHA:79278
Burning Mouth Syndrome
Strawberry tongue, Parageusia, Tongue pain, Xerostomia, Abnormality of the gingiva, Burning mouth... ORPHA:353253
Retinitis Pigmentosa 42
Pallor OMIM:612943
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Cutis laxa OMIM:614434
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse eyelashes, Hypohidrosis, Slow-growing hair, Dry skin, Sparse body hair OMIM:618535
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Tongue edema, Pharyngeal edema, Angioedema, Erythema, Facial edema, Palpebral edema, Laryngeal edema ORPHA:100057
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Xfe Progeroid Syndrome
Dry skin, Prematurely aged appearance, Cachexia, Ascites OMIM:610965
Erythema Of Acral Regions
Erythema OMIM:227000
Dermatitis Herpetiformis
Eczema, Pruritus, Edema, Erythema, Urticaria, Microcytic anemia, Skin vesicle ORPHA:1656
Cerebellar Ataxia And Ectodermal Dysplasia
Alopecia, Sparse hair OMIM:212835
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Erythema, Anemia ORPHA:158014
Hartnup Disorder
Glossitis OMIM:234500
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Alopecia, Sparse hair OMIM:203600
Primary Erythromelalgia
Leukemia, Pruritus, Erythema ORPHA:90026
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Erythema, Chronic mucocutaneous candidiasis, Increased circulating IgE lev... OMIM:147060
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Pancytopenia, Peau d'orange, Impaired T cell function, Failure to thrive, Decre... OMIM:614576
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin OMIM:218650
Parc Syndrome
Alopecia, Absent eyebrow, Absent eyelashes OMIM:600331
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Drug-Induced Localized Lipodystrophy
Erythema, Reduced subcutaneous adipose tissue ORPHA:90157
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Hirsutism, Nail dystrophy, Abnormal hair whorl, Dry skin, Low posterior hairline, Increased body ... OMIM:300860
Jung Syndrome
Dry skin, Low posterior hairline, Wide nasal bridge, Hypothyroidism ORPHA:2321
Myoclonic-Astatic Epilepsy
Wide nasal bridge, Premature skin wrinkling, Frontal balding ORPHA:1942
Acrodermatitis Enteropathica
Pustule, Ridged nail, Failure to thrive, Weight loss, Alopecia, Erythema, Abnormal eyebrow morpho... ORPHA:37
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Aicardi-Goutieres Syndrome 5
Dry skin, Chilblains, Scaling skin, Thrombocytopenia OMIM:612952
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Bullous Impetigo
Erythema, Pustule, Recurrent bacterial skin infections ORPHA:36237
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sparse hair, Erythema, Alopecia, Palmoplantar keratoderma, Abnormal fingernail morphology, Anhidr... ORPHA:659
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Pustule, Perianal erythema, Failure to thrive, Increased circulating IgE level, Per... OMIM:614328
Protoporphyria, Erythropoietic, 1
Eczema, Pruritus, Edema, Erythema, Hemolytic anemia OMIM:177000
Retinitis Pigmentosa 81
Pallor OMIM:617871
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis ORPHA:300179
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Failure to thrive, Increased circulating IgG level, Splenomegaly... OMIM:617388
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Erythema OMIM:194400
Erythema Palmare Hereditarium
Erythema OMIM:133000
Benign Chronic Pemphigus
Erythema OMIM:169600
Annular Erythema
Erythema