Gene: Krt2 MGI:96699

Log in to follow

Gene Summary

keratin 2
Krt2-2,  Krt2e,  Krt2-17

IMPC Data Collections

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 testis morphology Krt2tm1b(KOMP)Wtsi HET Early adult 0.00
small testis Krt2tm1b(KOMP)Wtsi HET Early adult 0.00
polycystic kidney Krt2tm1b(KOMP)Wtsi HOM Early adult 0.00
preweaning lethality, incomplete penetrance Krt2tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal kidney morphology Krt2tm1b(KOMP)Wtsi HET Early adult 0.00
enlarged kidney Krt2tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal kidney morphology Krt2tm1b(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  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)
Vagina  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
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
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)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote Not available
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)
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
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Phenotype associated images not available

Human diseases caused by Krt2 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 Krt2 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Superficial Epidermolytic Ichthyosis
Ichthyosis, Acantholysis, Palmoplantar keratoderma, Erythema, Edema ORPHA:455
Ichthyosis Bullosa Of Siemens
Congenital bullous ichthyosiform erythroderma OMIM:146800

The table below shows human diseases predicted to be associated to Krt2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Familial Reactive Perforating Collagenosis
Pruritus, Hyperkeratotic papule, Perifolliculitis, Abnormality of the pinna, Maculopapular exanth... ORPHA:79147
Testicular Torsion
Torsion of appendix of testis, Testicular torsion OMIM:187400
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Recurrent cutaneous fungal infections, Palmoplantar keratoderma OMIM:244850
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis, Scaling skin, Erythema OMIM:617571
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Pruritus, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Cole Disease
Hyperkeratosis, Hypergranulosis, Epidermal acanthosis, Palmoplantar keratoderma OMIM:615522
Acrokeratosis Verruciformis
Hyperkeratosis, Acrokeratosis, Epidermal acanthosis OMIM:101900
Porokeratosis Of Mibelli
Hyperkeratosis, Pruritus, Porokeratosis ORPHA:735
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Ichthyosis, Hyperkeratosis, Erythema, Congenital ichthyosiform erythroderma, Epi... OMIM:613943
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Ichthyosis, Congenital, Autosomal Recessive 5
Palmoplantar keratoderma, Erythroderma, Epidermal acanthosis, Parakeratosis, Orthokeratosis, Cong... OMIM:604777
Palmoplantar Keratoderma, Punctate Type Ia
Hypergranulosis, Orthokeratosis, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis OMIM:148600
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Peeling Skin Syndrome 4
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Scaling skin, Epidermal acanthosis, Orthoke... OMIM:607936
Keratosis, Focal Palmoplantar And Gingival
Subungual hyperkeratosis, Gingival hyperkeratosis, Circumungual hyperkeratosis, Focal friction-re... OMIM:148730
Dowling-Degos Disease 2
Hyperkeratotic papule, Hypomelanotic macule, Reticular hyperpigmentation, Follicular hyperkeratosis OMIM:615327
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Epidermal acanthosis OMIM:615598
Psoriasis 2
Hyperkeratosis, Scaling skin, Epidermal acanthosis, Parakeratosis, Psoriasiform dermatitis OMIM:602723
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Epidermolysis Bullosa Simplex, Localized
Hyperkeratosis OMIM:131800
Epidermolytic Hyperkeratosis
Erythroderma, Congenital bullous ichthyosiform erythroderma, Scaling skin, Epidermal acanthosis, ... OMIM:113800
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis OMIM:617115
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis, Irregular hyperpigmentation, Multiple cafe-au-lait spots ORPHA:1336
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar scaling skin, Scali... ORPHA:530838
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Ichthyosis, Recurrent skin infections, Diffuse palmoplantar hyperkeratosis ORPHA:79503
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Sensorineural hearing impairment, Palmoplantar keratoderma ORPHA:2202
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Hyperkeratosis, Palmoplantar keratoderma OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Insulin-Resistance Syndrome Type A
Generalized hyperpigmentation, Hyperkeratosis ORPHA:2297
Bazex Syndrome
Pruritus, Palmoplantar keratoderma, Acanthosis nigricans, Lip hyperpigmentation, Hyperkeratosis, ... ORPHA:166113
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypergranulosis, Palmoplantar keratoderma, Acantholysis, Erythroderma, Recurrent skin infections,... OMIM:615508
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:270220
Hyperkeratosis, Thickened skin ORPHA:1659
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis, Palmoplantar keratoderma OMIM:612908
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis, Palmoplantar keratoderma OMIM:615735
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation, Hyperkeratosis ORPHA:315
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Atopic dermatitis, Palmar pruritus, Palmoplantar keratoderma, Exce... ORPHA:498359
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Epidermal acanthosis OMIM:617525
Vohwinkel Syndrome, Variant Form
Hyperkeratosis, Hypergranulosis, Orthokeratosis, Parakeratosis OMIM:604117
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Verrucous Hemangioma
Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin ORPHA:464318
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Pityriasis Rubra Pilaris
Hypergranulosis, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis, Orthokeratosis OMIM:173200
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Spotty hypopigmentation, Hyperkeratosis, Mixed hypo- and hyperpigmentation of the skin,... ORPHA:79399
Basan Syndrome
Hyperkeratosis, Epidermal acanthosis OMIM:129200
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:617526
Porokeratosis Plantaris Palmaris Et Disseminata
Generalized hyperkeratosis, Palmoplantar keratoderma ORPHA:737
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Micropenis, Congenital adrenal hypoplasia OMIM:202150
Erythrokeratodermia Variabilis Et Progressiva 1
Hypergranulosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Ep... OMIM:133200
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Hyperkeratosis, Acne inversa, Orthokeratosis OMIM:617337
Idiopathic Localized Lipodystrophy
Pruritus, Morphea, Scaling skin, Erythema, Hyperpigmentation of the skin, Scleroderma, Hypopigmen... ORPHA:90158
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Follicular hyperkeratosis, Chronic furunculosis, Recurrent cutaneous abscess fo... OMIM:613736
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Bathing Suit Ichthyosis
Ichthyosis, Erythroderma, Scaling skin, Epidermal acanthosis, Parakeratosis, Thickened skin, Cong... ORPHA:100976
Anonychia With Flexural Pigmentation
Hyperkeratosis, Axillary and groin hyperpigmentation and hypopigmentation, Hypermelanotic macule,... ORPHA:69125
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Acquired Ichthyosis
Pruritus, Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Recurrent skin infectio... ORPHA:454
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Dyschromatosis Universalis Hereditaria
Freckling, Spotty hypopigmentation, Hearing impairment, Multiple cafe-au-lait spots, Hypopigmente... ORPHA:241
Elastosis Perforans Serpiginosa
Crusting erythematous dermatitis, Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa ORPHA:79148
Ulerythema Ophryogenesis
Erythema, Follicular hyperkeratosis, Inflammatory abnormality of the skin ORPHA:3406
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Acral Peeling Skin Syndrome
Scaling skin, Excessive wrinkling of palmar skin, Hyperpigmentation of the skin, Erythema ORPHA:263534
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Palmoplantar keratoderma, Hyperkeratosis, Angular cheilitis, Scaling skin, Epidermal acanthosis OMIM:616295
Parana Hard Skin Syndrome
Generalized hyperpigmentation, Thickened skin, Hyperkeratosis ORPHA:2812
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Ichthyosis, Congenital, Autosomal Recessive 7
Hypergranulosis, Ichthyosis, Palmoplantar keratoderma, Erythroderma, Epidermal acanthosis OMIM:615022
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Psoriasiform lesion, Pruritus, Pustule, Superficial dermal perivascular inflammatory infiltrate, ... ORPHA:284426
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Hyperkeratosis, Hyperpigmentation of the skin, Hypopigmentation of the skin, Palmoplant... ORPHA:89838
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Ichthyosis, Cholangitis, Epidermal acanthosis, Parakeratosis, Orthokeratosis, Dry skin OMIM:607626
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized hyperkeratosis, Generalized ichthyosis, Cutis laxa, Scaling skin, Epidermal acanthosi... ORPHA:2269
Autosomal Dominant Epidermolytic Ichthyosis
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Congenital bullous ichthyosif... ORPHA:312
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Hearing impairment OMIM:300719
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Erythroderma, Scaling skin, Dry skin OMIM:609180
Infantile Digital Fibromatosis
Hyperkeratosis, Epidermal acanthosis, Parakeratosis ORPHA:199267
Classic Mycosis Fungoides
Skin rash, Pruritus, Irregular hyperpigmentation, Hyperkeratosis, Erythema, Edema, Hypopigmented ... ORPHA:2584
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Hyperkeratosis, Cafe-au-lait spot, Hypopigmented skin pa... OMIM:145250
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hearing impairment, Hy... ORPHA:42665
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Pruritus, Erythema migrans, Hyperpigmentation of the skin, Generalized reticulate brown pigmentat... ORPHA:158681
White Sponge Nevus 2
Edema, Epidermal acanthosis, Hyperparakeratosis OMIM:615785
Ichthyosis, Congenital, Autosomal Recessive 6
Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Epidermal acanthosis, Parakeratosis, Cong... OMIM:612281
Pityriasis Rubra Pilaris
Pruritus, Ichthyosis, Irregular hyperpigmentation, Pustule, Palmoplantar keratoderma, Erythroderm... ORPHA:2897
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Chilblain Lupus
Skin rash, Hyperkeratosis, Pruritis on hand, Discoid lupus rash, Malar rash, Skin ulcer, Inflamma... ORPHA:90280
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Pemphigus Erythematosus
Pruritus, Skin vesicle, Acantholysis, Crusting erythematous dermatitis ORPHA:79480
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Hypopigmented streaks, Conjunctivitis, Skin vesicle, Blepharitis ORPHA:254478
Ichthyosis With Confetti
Hyperkeratosis, Erythroderma, Palmoplantar hyperkeratosis OMIM:609165
Pachyonychia Congenita 4
Hyperkeratosis, Palmoplantar keratoderma OMIM:615728
Mal De Meleda
Subungual hyperkeratosis, Hyperkeratosis with erythema, Ichthyosis, Diffuse palmoplantar hyperker... ORPHA:87503
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Primary amenorrhea, Absence of pubertal development, Hypogonadotrop... OMIM:614840
Olmsted Syndrome, X-Linked
Posterior blepharitis, Palmoplantar keratoderma, Hyperkeratosis, Subungual hyperkeratosis, Epider... OMIM:300918
Epidermolytic Palmoplantar Keratoderma
Localized epidermolytic hyperkeratosis, Eczema, Palmoplantar keratoderma, Erythema ORPHA:2199
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on abdomen, Pruritus, Palmar pruritus, Facial erythema, Pruritus on foot, Eczematoid der... ORPHA:64745
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer ORPHA:409
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Palmoplantar Keratoderma And Congenital Alopecia 2
Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Sclerodactyly, Dry skin OMIM:212360
Olmsted Syndrome 2
Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Cheilitis, Epidermal acanthosis, Parakeratosi... OMIM:619208
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Ambiguous genitalia, Microphallus, Perineal hypospadias, Testicular dysgenesis, M... OMIM:615542
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Ichthyosis, Hyperkeratosis, Scaling skin, Erythema, Dry skin OMIM:614457
Acrokeratoelastoidosis Of Costa
Hyperkeratosis, Acrokeratosis ORPHA:38
Abnormality of skin pigmentation, Pruritus, Hyperkeratosis ORPHA:79358
Ichthyosis, Hystrix-Like, With Deafness
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Punctate keratitis, Sensorine... OMIM:602540
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Congenital ichthyosiform erythroderma, Epidermal acanthosis OMIM:615023
Nephronophthisis 16
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney OMIM:615382
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Acne Inversa, Familial, 3
Recurrent cutaneous abscess formation, Chronic furunculosis, Acne inversa, Perifolliculitis OMIM:613737
Pemphigus Foliaceus
Crusting erythematous dermatitis, Skin vesicle, Acantholysis, Erythema ORPHA:79481
Vulvovaginal Gingival Syndrome
Erythema, Pruritus, Epidermal acanthosis, Parakeratosis ORPHA:83453
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Erythrokeratodermia Variabilis
Skin rash, Irregular hyperpigmentation, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Eryth... ORPHA:317
Darier Disease
Abnormality of skin pigmentation, Pruritus, Acrokeratosis, Palmoplantar keratoderma, Subungual hy... ORPHA:218
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Ichthyosis Vulgaris
Eczematoid dermatitis, Ichthyosis, Absent keratohyalin granules, Dry skin OMIM:146700
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Freckling, Hyperpigmentation of the skin, Erythema OMIM:194400
Odontoonychodermal Dysplasia
Hypergranulosis, Erythema, Epidermal acanthosis, Plantar hyperkeratosis, Orthokeratosis, Dry skin OMIM:257980
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Darier-White Disease
Pruritus, Acrokeratosis, Acantholysis, Subungual hyperkeratotic fragments, Hypermelanotic macule OMIM:124200
Superficial Epidermolytic Ichthyosis
Ichthyosis, Acantholysis, Palmoplantar keratoderma, Erythema, Edema ORPHA:455
Transgrediens Et Progrediens Palmoplantar Keratoderma
Dry skin, Generalized hyperkeratosis, Palmoplantar keratoderma, Erythema ORPHA:495
Hypotrichosis 6
Follicular hyperkeratosis, Pruritus, Erythema OMIM:607903
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar keratoderma, Epidermal acanthosis, S... OMIM:148700
Immunodeficiency 51
Folliculitis, Pustule, Cutaneous abscess, Chronic oral candidiasis, Recurrent otitis media, Recur... OMIM:613953
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Congenital ichthyosiform erythroderma, Erythroderma, Palmoplantar keratoderma OMIM:615024
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Epidermal acanthosis OMIM:616029
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis, Osteomyelitis OMIM:615632
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Palmoplantar hyperkeratosis OMIM:604536
Acral Self-Healing Collodion Baby
Edema of the dorsum of hands, Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, ... ORPHA:281127
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling, Dry skin OMIM:600630
Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis, Dry skin ORPHA:461
Dowling-Degos Disease 4
Hypergranulosis, Epidermal acanthosis OMIM:615696
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Lamellar Ichthyosis
Pruritus, Ichthyosis, Hyperkeratosis, Erythroderma, Chronic otitis media, Dehydration, Abnormalit... ORPHA:313
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Spotty hypopigmentation, Hyperkeratotic papule, Mixed hypo- and hyperpigmen... ORPHA:79397
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Uv-Sensitive Syndrome 3
Freckling, Dry skin OMIM:614640
Lichen Planopilaris
Pruritus, Hyperkeratosis, Hepatitis, Hypopigmented skin patches, Skin ulcer ORPHA:525
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Acrokeratosis Verruciformis Of Hopf
Hyperkeratosis, Hypergranulosis, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis ORPHA:79151
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Linear arrays of macular hyperkeratoses in fle... OMIM:601952
Trichothiodystrophy 7, Nonphotosensitive
Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma OMIM:618546
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratosis, Sensorineural hearing impairment, Palmoplantar keratoderma ORPHA:2698
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Parakeratosis OMIM:615821
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Acantholysis ORPHA:704
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma, Congenital ichthyosiform erythroderma, Epidermal acanthosis, Parakeratosis, Palmopl... OMIM:242300
Focal Palmoplantar And Gingival Keratoderma
Palmoplantar keratoderma, Gingival hyperkeratosis, Focal friction-related palmoplantar hyperkerat... ORPHA:2200
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin, Erythema ORPHA:90157
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Ichthyosis, Hyperkeratosis, Cutis laxa, Eczema OMIM:612379
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections, Edema ORPHA:345
Lymphatic Malformation 4
Hyperkeratosis, Lymphedema OMIM:615907
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Familial Benign Chronic Pemphigus
Hyperkeratosis, Skin vesicle, Acantholysis, Erythema ORPHA:2841
Moynahan Syndrome
Hyperkeratosis, Sensorineural hearing impairment ORPHA:2574
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Pruritus ORPHA:89843
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Dry skin OMIM:106750
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hepatomegaly, Neonatal death, Absence of renal cort... OMIM:263200
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Discrete 2 to 5-mm hyper- and hypopig... OMIM:131960
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
Erythema, Ichthyosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis OMIM:607602
Ichthyosis, Congenital, Autosomal Recessive 3
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Erythema OMIM:606545
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Ichthyosis, Hyperkeratosis, Erythema, Generalized hyperpigme... ORPHA:816
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Iga Pemphigus
Pruritus, Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Acantholysis, Ulcera... ORPHA:555905
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Rare Cutaneous Lupus Erythematosus
Psoriasiform lesion, Pustule, Neutrophilic infiltration of the skin, Panniculitis, Mixed hypo- an... ORPHA:535
Amyloidosis, Primary Localized Cutaneous, 3
Hypermelanotic macule, Dry skin OMIM:617920
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Adrenocortical Hypofunction, Chronic Primary Congenital
Hyperpigmentation of the skin OMIM:103230
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis, Recurrent otitis media, Cafe-au-lait spot OMIM:618625
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Amyloidosis, Primary Localized Cutaneous, 1
Pruritus, Cutis laxa, Scaling skin, Dry skin OMIM:105250
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Psoriasis 14, Pustular
Pustule, Erythema, Cholangitis, Epidermal acanthosis, Parakeratosis, Oligoarthritis, Psoriasiform... OMIM:614204
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Ectodermal Dysplasia-Syndactyly Syndrome 2
Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderm... OMIM:613576
Dermatitis, Atopic
Pruritus, Ichthyosis, Atopic dermatitis, Allergic rhinitis, Facial erythema, Conjunctivitis, Ecze... OMIM:603165
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Renal cortical adenoma, Nephroblastoma, Polycystic kidney dysplas... OMIM:145001
Ichthyosis, Congenital, Autosomal Recessive 2
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Congenital ichthyosiform ery... OMIM:242100
Retinohepatoendocrinologic Syndrome
Abnormality of skin pigmentation, Pallor OMIM:268040
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia OMIM:600666
Keratoderma Hereditarium Mutilans
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Hearing impairment, Sensorineu... ORPHA:494
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Facial erythema, Palmoplantar keratoderma, Follicular hyperkeratosis, Conjunctiviti... OMIM:308800
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Cutaneous Mastocytoma
Abnormality of skin pigmentation, Hypermelanotic macule ORPHA:79455
Aicardi-Goutieres Syndrome 5
Scaling skin, Chilblains, Dry skin OMIM:612952
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney OMIM:615993
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar keratoderma, Epidermal hyperkeratosis, Palmoplantar erythema, Hyperpigmentation of t... OMIM:104100
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, Sensorineural hearing impairment, White eyelashes,... OMIM:227010
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Absence of renal corticomedullary differentiation, Stage 5 chr... OMIM:602088
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Irida Syndrome
Hyperkeratosis, Ichthyosis, Pallor ORPHA:209981
Meige Disease
Edema of the dorsum of hands, Lymphedema, Pleural effusion, Recurrent bacterial skin infections, ... ORPHA:90186
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Oligohydramnios, Erythroderma, Scaling skin, Follicular hyperkeratosis, Hearing impairment, Kerat... OMIM:308205
Palmoplantar Keratoderma, Epidermolytic
Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm... OMIM:144200
Immunodeficiency 58
Psoriasiform lesion, Esophagitis, Ichthyosis, Cutaneous abscess, Seborrheic dermatitis, Allergic ... OMIM:618131
Harlequin Ichthyosis
Ichthyosis, Hyperkeratosis, Erythroderma, Dehydration, Congenital ichthyosiform erythroderma ORPHA:457
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Olmsted Syndrome 1
Subungual hyperkeratosis, Pruritus, Palmoplantar keratoderma, Parakeratosis OMIM:614594
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Porokeratosis 3, Multiple Types
Porokeratosis, Parakeratosis OMIM:175900
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Peeling Skin Syndrome 1
Pruritus, Scaling skin, Erythema OMIM:270300
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Hepatomegaly, Chronic kidne... ORPHA:85445
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Tietz Albinism-Deafness Syndrome
White eyebrow, White eyelashes, Bilateral sensorineural hearing impairment, Generalized hypopigme... OMIM:103500
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Milroy Disease
Hyperkeratosis, Lymphedema, Pedal edema, Predominantly lower limb lymphedema, Erysipelas ORPHA:79452
Hypotrichosis With Juvenile Macular Degeneration
Melanocytic nevus, Freckling, Hyperkeratosis ORPHA:1573
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Hearing impairment ORPHA:2222
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Hypopigmentation of the skin, Diffuse palmoplantar hyperkeratosis OMIM:617294
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:616030
Bullous Dystrophy, Hereditary Macular Type
Short finger, Hyperpigmentation of the skin, Tapered finger OMIM:302000
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic kidney dysplasia, Stage 5 chr... OMIM:613095
Chronic Actinic Dermatitis
Progressive hyperpigmentation, Pruritus, Allergic rhinitis, Erythroderma, Epidermal acanthosis, H... ORPHA:330064
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
Kerion Celsi
Recurrent skin infections, Recurrent cutaneous abscess formation, Inflammatory abnormality of the... ORPHA:499
Pseudovaginal Perineoscrotal Hypospadias
Cryptorchidism, Ambiguous genitalia, male, Bifid scrotum, Perineal hypospadias, Micropenis, Abnor... OMIM:264600
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Stillbirth, Enlarged kidney OMIM:615415
Flynn-Aird Syndrome
Progressive sensorineural hearing impairment, Hyperkeratosis OMIM:136300
Ichthyosis Bullosa Of Siemens
Congenital bullous ichthyosiform erythroderma OMIM:146800
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis, Dry skin OMIM:617066
Lipoid Proteinosis
Hyperkeratosis, Thickened skin, Pustule, Acne ORPHA:530
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s... ORPHA:753
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypopigmentation o... ORPHA:2513
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst OMIM:617874
Retinitis Pigmentosa 35
Abnormality of skin pigmentation OMIM:610282
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Yemenite Deaf-Blind Hypopigmentation Syndrome
Severe sensorineural hearing impairment, Patchy hypo- and hyperpigmentation, Numerous pigmented f... OMIM:601706
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Centrifugal Lipodystrophy
Erythema, Lymphadenitis, Scaling skin, Inflammatory abnormality of the skin ORPHA:90156
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Ectodermal Dysplasia-Skin Fragility Syndrome
Pruritus, Chapped lip, Palmoplantar keratoderma, Scaling skin, Cheilitis, Follicular hyperkeratos... ORPHA:158668
Ramon Syndrome
Conductive hearing impairment, Abnormality of retinal pigmentation, Sensorineural hearing impairm... ORPHA:3019
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Proteus Syndrome
Hyperkeratosis, Depigmentation/hyperpigmentation of skin, Epidermal acanthosis OMIM:176920
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Pallor, Hypopigmentation of the skin ORPHA:2786
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Pruritus, Hyperparakeratosis, Hyperkeratosis, Lymphedema, Hyperkeratotic papule, Predominantly lo... ORPHA:182
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Palmoplantar keratoderma, Finger syndactyly, Protruding ear, Hyperpigmen... ORPHA:2251
Leopard Syndrome 3
Few cafe-au-lait spots, Hyperkeratosis, Epidermal hyperkeratosis, Posteriorly rotated ears, Senso... OMIM:613707
Noonan Syndrome 8
Polyhydramnios, Hyperkeratosis, Pleural effusion, Palmoplantar cutis laxa, Hyperpigmentation of t... OMIM:615355
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Sensorineural hearing impairment, Partial albi... ORPHA:998
Hypotrichosis And Recurrent Skin Vesicles
Follicular hyperkeratosis, Skin vesicle, Angular cheilitis, Epidermal acanthosis OMIM:613102
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Skin rash, Pustule, Joint swelling, Hyperkeratosis, Stomatitis, Epidermal acanthosis, Osteomyelitis OMIM:612852
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Renal tubular atrophy, Renal corticomedullary cysts, Tubulointers... OMIM:603860
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Partial albinism, Piebaldism, Congenital sensorineu... OMIM:300700
Congenital Non-Bullous Ichthyosiform Erythroderma
Pruritus, Ichthyosis, Palmoplantar keratoderma, Erythroderma, Hearing impairment, Keratitis ORPHA:79394
Campomelia, Cumming Type
Polycystic kidney dysplasia OMIM:211890
Skin Fragility-Woolly Hair Syndrome
Palmoplantar keratosis with erythema and scale, Acantholysis OMIM:607655
Epidermolysis Bullosa Simplex With Nail Dystrophy
Plantar hyperkeratosis OMIM:616487
Palmoplantar Carcinoma, Multiple Self-Healing
Follicular hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Parakeratosis OMIM:615225
Rat-Bite Fever
Skin rash, Pustule, Parotitis, Endocarditis, Pericarditis, Lymphadenitis, Scaling skin, Maculopap... ORPHA:31205
Scaling skin, Dry skin OMIM:257960
Ichthyosis, Congenital, Autosomal Recessive 11
Hyperkeratosis, Congenital ichthyosiform erythroderma, Blepharitis OMIM:602400
Pilodental Dysplasia With Refractive Errors
Follicular hyperkeratosis, Reticular hyperpigmentation OMIM:262020
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Netherton Syndrome
Allergic rhinitis, Erythroderma, Hypereosinophilia, Parakeratosis, Hypernatremic dehydration, Ang... OMIM:256500
Juvenile Idiopathic Arthritis
Skin rash, Generalized hyperkeratosis, Joint swelling, Pericardial effusion, Uveitis, Thickened s... ORPHA:92
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Abnormality of the urethra, Mal... ORPHA:752
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis, Sensorineural hearing impairment ORPHA:300179
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Dehydration, Edema, Epidermal acanthosis, Recurrent pneumonia OMIM:616069
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Recurrent urinary tract infections, Decr... ORPHA:730
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia OMIM:617866
Prolidase Deficiency
Pruritus, Abnormality of retinal pigmentation, Palmoplantar keratoderma, Hyperkeratosis, Erythema... ORPHA:742
Immunodeficiency 55
Eczema, Ichthyosis, Recurrent skin infections, Dry skin OMIM:617827
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614870
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Generalized aminoaciduria, Proximal tubulopathy, Glycosu... OMIM:231680
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Hyperkeratosis, Ocular albi... ORPHA:79431
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Low-set, posteriorly rotated ears, Ichthyosis, Eczema ORPHA:3055
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Autoinflammation With Arthritis And Dyskeratosis
Palmoplantar hyperkeratosis, Thyroiditis, Uveitis, Punctate keratitis, Follicular hyperkeratosis,... OMIM:617388
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Pachyonychia Congenita 3
Chapped lip, Palmoplantar keratoderma, Hyperkeratosis, Palmar hyperkeratosis, Plantar hyperkeratosis OMIM:615726
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Neonatal death, Renal cyst OMIM:228940
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Bifid distal phalanx of toe, Limited elbow extension, Overfolded helix, Broad palm, Scaling skin,... OMIM:618419
Chronic Mucocutaneous Candidiasis
Skin rash, Pruritus, Hyperkeratosis, Cheilitis, Erythema, Hepatitis, Skin ulcer ORPHA:1334
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Hearing impairment, Lymphedema ORPHA:79279
Pili Torti-Onychodysplasia Syndrome
Palmoplantar keratoderma, Abnormality of the pinna, Generalized keratosis follicularis, Eczema, D... ORPHA:2890
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hyperpigmentation of the skin, Hypopigmentation of the skin, Dry skin ORPHA:90342
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate ORPHA:90283
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Abnormality of the kidney, Cystic renal dysplasia OMIM:613730
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney ORPHA:1988
Hidrotic Ectodermal Dysplasia, Halal Type
Follicular hyperkeratosis, Hearing impairment, Protruding ear, Multiple cafe-au-lait spots ORPHA:1809
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Nephropathy, Multicystic kidney dysplasia ORPHA:1909
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Pachyonychia Congenita 2
Subungual hyperkeratosis, Folliculitis, Palmoplantar hyperkeratosis OMIM:167210
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Dysgerminoma, Decreased testicular size, Micro... OMIM:616425
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Renal Tubular Dysgenesis
Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis, Nephropathy ORPHA:3033
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Hepatosplenomegaly, Polycystic kidney dysplasia OMIM:608776
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Generalized hypopigmentation of hair, Hyperkeratosis, Xerostomia, Ke... ORPHA:238468
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Primary amenorrhea OMIM:614858
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Scaling skin, Pneumonia, Septic arthritis, Glomerulonephritis, Hepatitis,... ORPHA:36234
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis OMIM:181600
Graft Versus Host Disease
Acute hepatitis, Gastrointestinal inflammation, Scaling skin, Maculopapular exanthema, Pneumonia,... ORPHA:39812
Epidermodysplasia Verruciformis, Susceptibility To, 3
Palmar pits, Epidermal acanthosis OMIM:618267
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis, Sensorineural hearing impairment ORPHA:1883
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Hyperkeratosis, Hearing impairment, Protruding ear, Keratoconju... ORPHA:1806
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Bilateral cryptorchidism... ORPHA:457083
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Neonatal Lupus Erythematosus
Skin rash, Hyperkeratosis, Maculopapular exanthema, Malar rash, Parakeratosis ORPHA:398124
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:281090
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Brachytelomesophalangy, Freckling, Short distal phalanx of finger ORPHA:1547
Salt And Pepper Developmental Regression Syndrome
Abnormality of skin pigmentation, Hearing impairment, Hypermelanotic macule, Hyporeflexia of uppe... OMIM:609056
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Pruritus, Hyperkeratotic papule, Skin vesicle ORPHA:79410
Quinquaud Folliculitis Decalvans
Pustule, Recurrent skin infections, Erythema ORPHA:346
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormality of skin pigmentation, Skin ulcer, Purpura ORPHA:743
Corneodermatoosseous Syndrome
Erythroderma, Palmoplantar hyperkeratosis OMIM:122440
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Facial erythema, Palmoplantar keratoderma, Conjunctivitis, Keratitis, Blepharitis OMIM:612843
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin ORPHA:1028
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Erythroderma, Thyroiditis, Scaling skin, Eczema, Psoriasiform dermatitis OMIM:606367
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation, Purpura ORPHA:745
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism OMIM:614279
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Immunodeficiency, Common Variable, 8, With Autoimmunity
Psoriasiform lesion, Vitiligo, Inflammation of the large intestine, Bronchiectasis, Thyroiditis, ... OMIM:614700
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections OMIM:617744
Follicular hyperkeratosis ORPHA:573
Spinocerebellar Ataxia 34
Hyperkeratosis OMIM:133190
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Skin rash, Pruritus, Recurrent cutaneous abscess formation, Skin ulcer, Arthritis ORPHA:231
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Sézary Syndrome
Pruritus, Irregular hyperpigmentation, Palmoplantar keratoderma, Erythroderma, Edema, Dry skin ORPHA:3162
Pressure-Induced Localized Lipoatrophy
Erythema, Inflammatory abnormality of the skin ORPHA:90160
X-Linked Sideroblastic Anemia
Hyperpigmentation of the skin, Pallor ORPHA:75563
Intermediate Generalized Junctional Epidermolysis Bullosa
Abnormality of skin pigmentation, Palmoplantar keratoderma ORPHA:79402
Perifollicular hyperkeratosis OMIM:158000
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin OMIM:176090
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Hydronephrosis, Cardiomegaly, Polycystic kidney dysplasia, Long-ch... OMIM:608836
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Reticular hyperpigmentation, Bronchiectasis, Hyperkeratosis, Colitis, Generalized reticulate brow... OMIM:301220
Fair hair, Eczema, Scleroderma, Generalized hypopigmentation, Blue irides, Dry skin OMIM:261600
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Skin ulcer, Joint contracture of the hand, Hypopigmented skin p... ORPHA:220402
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Erosive Pustular Dermatosis Of The Scalp
Pustule, Erythema ORPHA:222
Cutis laxa, Eczema, Erysipelas, Premature skin wrinkling ORPHA:228240
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Pruritus, Atopic dermatitis, Bronchiectasis, Recurrent otitis media, Chronic mucocutaneous candid... OMIM:618282
Elejalde Disease
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Neonatal Inflammatory Skin And Bowel Disease
Pustule, Chapped lip, Recurrent bacterial skin infections, Scaling skin, Erythema, Psoriasiform d... ORPHA:294023
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hepatomegaly, Renal dysplasia, Ureteral atresia, Polycystic kidney dysplasia, Re... OMIM:208540
Porphyria Cutanea Tarda
Cutaneous abscess, Viral hepatitis, Recurrent bacterial skin infections, Scaling skin, Chronic he... ORPHA:101330
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation OMIM:616353
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Branchiootorenal Syndrome 1
Renal malrotation, Abnormal renal collecting system morphology, Renal steatosis, Renal dysplasia,... OMIM:113650
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Hypospadias, Renal cyst, Polycystic kidney dysplasia OMIM:614091
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Costello Syndrome
Polyhydramnios, Acanthosis nigricans, Hyperkeratosis, Low-set, posteriorly rotated ears, Redundan... ORPHA:3071
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst OMIM:613390
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Palmoplantar keratosis with erythema and scale, Crusting erythematous dermatitis ORPHA:158673
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Hepatomegaly, Tubuloi... ORPHA:157
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis OMIM:617056
Linear Verrucous Nevus Syndrome
Hyperkeratosis ORPHA:2611
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Renal hypoplasia, Renal dysplasia, Neonatal death, Renal cyst, Ureteral agenesis OMIM:236500
Trichothiodystrophy 1, Photosensitive
Freckling, Hyperkeratosis, Erythroderma, Protruding ear, Keratoconjunctivitis sicca, Congenital n... OMIM:601675
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Follicular hyperkeratosis, Dry skin ORPHA:486815
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis OMIM:615279
Familial Melanoma
Freckling, Dry skin ORPHA:618
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of skin pigmentation ORPHA:79411
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis ORPHA:1839
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis OMIM:609638
Nephronophthisis 4