Gene Summary

synaptosomal-associated protein 29

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
increased lean body mass Snap29tm1a(EUCOMM)Wtsi HET Early adult 1.35×10-05
increased bone mineral density Snap29tm1a(EUCOMM)Wtsi HET Early adult 1.04×10-05
increased bone mineral content Snap29tm1a(EUCOMM)Wtsi HET Early adult 2.60×10-06
increased body length Snap29tm1a(EUCOMM)Wtsi HET Early adult 2.74×10-05

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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
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 50% (1 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 50% (1 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 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.



10 Images

Legacy Phenotype Associated Images

View all 79 images

Human diseases caused by Snap29 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 Snap29 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Palmoplantar keratoderma, Ichthyosis OMIM:609528
Cednik Syndrome
Diffuse palmoplantar hyperkeratosis, Ichthyosis ORPHA:66631

The table below shows human diseases predicted to be associated to Snap29 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis, Congenital nonbu... OMIM:617571
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin OMIM:146590
Peeling Skin Syndrome 5
Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:617115
Ichthyosis With Erythrokeratoderma
Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Diffuse palmoplantar h... OMIM:620507
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Erythema, Atopic dermatitis, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkerat... ORPHA:530838
Epidermolytic Hyperkeratosis 1
Palmoplantar hyperkeratosis, Erythroderma, Scaling skin, Epidermal acanthosis, Congenital bullous... OMIM:113800
Peeling Skin Syndrome 6
Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus OMIM:618084
Huriez Syndrome
Dry skin, Palmoplantar keratoderma, Sclerodactyly, Lack of skin elasticity ORPHA:384
Psoriasis 2
Psoriasiform dermatitis, Parakeratosis, Scaling skin, Epidermal acanthosis, Hyperkeratosis OMIM:602723
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:615598
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Abnormal epidermal morphology, Inflammatory abnormality of the skin, Crust... ORPHA:79147
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Palmoplantar hyperkeratosis, Epidermal acanthosis, Hyperkeratosis, Congenital nonbullou... OMIM:617526
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Epidermal acanthosis, Erythrod... OMIM:612281
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Ichthyosis, Annular Epidermolytic, 2
Erythema, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Palmoplantar hyperkeratosis, Scal... OMIM:620148
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Scaling skin, Epidermal acanthosis, Hyperke... OMIM:607936
Verrucous Hemangioma
Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin ORPHA:464318
Acral Self-Healing Collodion Baby
Erythema, Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Lack of skin elasticity ORPHA:281127
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis ORPHA:737
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Parakeratosis, Scaling skin, Epidermal acanthosis, Pruritus, Hyperkeratosis ORPHA:90368
Keratoderma Hereditarium Mutilans With Ichthyosis
Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis,... ORPHA:79395
Keratosis, Focal Palmoplantar And Gingival
Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat... OMIM:148730
Idiopathic Localized Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Scleroderma, Morphea, Scaling skin, Pruritus ORPHA:90158
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... OMIM:613000
Ichthyosis, Annular Epidermolytic, 1
Erythema, Orthokeratosis, Hyperparakeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Scaling sk... OMIM:607602
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Epidermal acanthosis, Hyperkeratosis OMIM:615028
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis OMIM:617574
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Porokeratosis ORPHA:735
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Striae distensae, Parakeratosis, Pal... ORPHA:64745
Peeling Skin Syndrome 3
Erythema, White scaling skin, Pruritus OMIM:616265
Dowling-Degos Disease 4
Epidermal acanthosis, Pruritus, Hypergranulosis OMIM:615696
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized hyperkeratosis, Dry skin, Cutis laxa, Epidermal acanthosis, Scaling skin, Generalized... ORPHA:2269
Acral Peeling Skin Syndrome
Erythema, Eczematoid dermatitis, Excessive wrinkling of palmar skin, Ichthyosis, Scaling skin ORPHA:263534
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Excessive skin wrinkl... ORPHA:498359
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Erythroderma, Epider... OMIM:604777
Bazex Syndrome
Palmoplantar keratoderma, Parakeratosis, Acanthosis nigricans, Scaling skin, Pruritus, Hyperkerat... ORPHA:166113
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Pruritus, Scaling skin OMIM:105250
Ulerythema Ophryogenesis
Hyperkeratotic papule, Dry skin, Facial erythema, Follicular hyperkeratosis, Contact dermatitis, ... ORPHA:3406
Acquired Ichthyosis
Erythema, Palmoplantar keratoderma, Dry skin, Ichthyosis, Pruritus, Recurrent skin infections, Hy... ORPHA:454
Bathing Suit Ichthyosis
Thickened skin, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Erythroderma, Scaling ski... ORPHA:100976
Mal De Meleda
Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Ichthyosis, Superficial... ORPHA:87503
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Dry skin, Epidermal acanthosis, Follicular hyperkeratosis, Punctate palmoplantar hyperkeratosis, ... OMIM:616295
Atrophoderma Vermiculata
Hyperkeratotic papule, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Pruritus ORPHA:79100
Lamellar Ichthyosis
Dry skin, Ichthyosis, Lack of skin elasticity, Erythroderma, Pruritus, Hyperkeratosis ORPHA:313
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis, Palmoplantar keratoderma OMIM:612908
Ichthyosis With Confetti
Ichthyosis, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Pruritus, Congenital nonbull... OMIM:609165
Elastosis Perforans Serpiginosa
Crusting erythematous dermatitis, Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa ORPHA:79148
Increased bone mineral density OMIM:166450
Ichthyosis Vulgaris
Absent keratohyalin granules, Dry skin, Eczematoid dermatitis, Ichthyosis OMIM:146700
Increased bone mineral density OMIM:265880
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Psoriasiform lesion, Superficial dermal perivascula... ORPHA:284426
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Failure to thrive, Increased bone mineral density OMIM:615198
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity, Tall stature OMIM:618406
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Thickened skin, Hyperkeratosis ORPHA:1659
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Lack of skin elasticity ORPHA:1366
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema, Orthokeratosis, Hypergranulosis, Ichthyosis, Epidermal acanthosis, Hyperkeratosis OMIM:613943
Palmoplantar Keratoderma And Congenital Alopecia 2
Dry skin, Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Sclerodactyly OMIM:212360
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Pemphigus Foliaceus
Erythema, Psoriasiform dermatitis, Crusting erythematous dermatitis, Skin vesicle, Pustule, Eryth... ORPHA:79481
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz... OMIM:615024
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Erythroderma, Hyperkeratosis, Congenital bullou... ORPHA:312
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Dry skin, Ichthyosis, Scaling skin, Hyperkeratosis, Congenital nonbullous ichthyosiform... OMIM:614457
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyperkeratosis, Ichthyosis ORPHA:79503
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Skin ulcer, Malar rash, Skin rash, Prur... ORPHA:90280
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Erythrokeratodermia Variabilis Et Progressiva 1
Hypergranulosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Ep... OMIM:133200
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Epidermal acanthosis, Hyperk... OMIM:617525
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density, Tal... ORPHA:3152
Epidermolytic Palmoplantar Keratoderma
Hypergranulosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperke... ORPHA:2199
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Acrokeratosis Verruciformis
Acrokeratosis, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperker... OMIM:101900
Diffuse Palmoplantar Keratoderma, Bothnian Type
Diffuse palmoplantar hyperkeratosis, Erythema, Pruritus, Skin ulcer ORPHA:2337
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer ORPHA:409
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Hypergranulosis, Ichthyosis, Erythroderma, Epidermal acanthosis OMIM:615022
Infantile Digital Fibromatosis
Parakeratosis, Epidermal acanthosis, Hyperkeratosis ORPHA:199267
Aicardi-Goutieres Syndrome 5
Dry skin, Chilblains, Scaling skin OMIM:612952
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Classic Mycosis Fungoides
Erythema, Eczematoid dermatitis, Skin ulcer, Dry skin, Skin rash, Pruritus, Hyperkeratosis ORPHA:2584
Recessive X-Linked Ichthyosis
Dry skin, Hyperkeratosis, Ichthyosis ORPHA:461
Cutaneous Mastocytoma
Thickened skin, Erythema, Scaling skin, Pruritus, Maculopapular exanthema ORPHA:79455
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Failure to thrive, Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthriti... ORPHA:2485
Familial Benign Chronic Pemphigus
Erythema, Acantholysis, Hyperkeratosis, Skin vesicle ORPHA:2841
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Parana Hard Skin Syndrome
Thickened skin, Hyperkeratosis ORPHA:2812
Congenital Disorder Of Glycosylation, Type If
Dry skin, Hyperkeratosis, Erythroderma, Scaling skin OMIM:609180
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Pustule, Skin vesicle, Eosinophilic dermal infiltra... ORPHA:293173
Anonychia With Flexural Pigmentation
Follicular hyperkeratosis, Hyperkeratosis ORPHA:69125
Vulvovaginal Gingival Syndrome
Parakeratosis, Epidermal acanthosis, Pruritus, Erythema ORPHA:83453
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone ORPHA:564003
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Palmoplantar hyperkeratosis, E... OMIM:300918
Peeling Skin Syndrome 1
Pruritus, Erythroderma, Scaling skin OMIM:270300
Olmsted Syndrome 2
Palmoplantar keratoderma, Perioral hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Ep... OMIM:619208
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Palmar hyperkeratosis ORPHA:79399
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Thickened skin, Palmoplantar keratoderma, Lack of skin elasticity ORPHA:1979
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Lichen Planus Pemphigoides
Skin vesicle, Pruritus, Hyperkeratosis ORPHA:254478
Ectodermal Dysplasia/Skin Fragility Syndrome
Palmoplantar hyperkeratosis, Scaling skin OMIM:604536
Superficial Epidermolytic Ichthyosis
Erythema, Acantholysis, Palmoplantar keratoderma, Ichthyosis ORPHA:455
Stiff Skin Syndrome
Thickened skin, Lack of skin elasticity ORPHA:2833
Lipoid Proteinosis Of Urbach And Wiethe
Reduced epidermal extracellular matrix protein 1 protein expression, Thickened skin, Hyperkeratosis OMIM:247100
Hypotrichosis 6
Erythema, Pruritus, Follicular hyperkeratosis OMIM:607903
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Malar rash, Psoriasiform lesion, Hyperkeratosis ORPHA:163525
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:89838
Mueller-Weiss Syndrome
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... ORPHA:566943
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Acne inversa, Chronic furunculosis, Perifolliculitis, Follicular hyperkeratosis, Recurrent cutane... OMIM:613736
Leri Pleonosteosis
Thickened skin, Lack of skin elasticity ORPHA:2900
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema, Palmoplantar keratoderma, Ichthyosis, Parakeratosis, Pruritus, Hyperkeratosis OMIM:615821
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hypergranulosis, Erythroderma, Epidermal acanthosis, Hyperkeratosis, Congenital n... OMIM:615023
Cole Disease
Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Punctate palmop... OMIM:615522
Palmoplantar Keratoderma, Punctate Type Ia
Epidermal acanthosis, Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Skin vesicle, Erythema migrans ORPHA:158681
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Hyperkeratosis, Skin ulcer, Scaling skin ORPHA:454831
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Classic Phenylketonuria
Eczematoid dermatitis, Lack of skin elasticity ORPHA:79254
Erythrokeratodermia Variabilis
Erythema, Dry skin, Patchy palmoplantar hyperkeratosis, Skin rash, Hyperkeratosis ORPHA:317
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperkerat... OMIM:148700
Darier Disease
Thickened skin, Palmoplantar keratoderma, Subungual hyperkeratotic fragments, Skin vesicle, Acrok... ORPHA:218
Irida Syndrome
Hyperkeratosis, Ichthyosis, Pallor ORPHA:209981
Costello Syndrome
Redundant skin, Acanthosis nigricans, Hyperkeratosis, Lack of skin elasticity ORPHA:3071
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Seborrhea-Like Dermatitis With Psoriasiform Elements
Epidermal acanthosis, Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Centrifugal Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Scaling skin ORPHA:90156
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Parakeratosis, Hyperkerat... OMIM:604117
White Sponge Nevus 2
Epidermal acanthosis, Hyperparakeratosis OMIM:615785
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Singleton-Merten Syndrome 2
Psoriasiform lesion, Hyperkeratosis OMIM:616298
Ehlers-Danlos Syndrome, Hypermobility Type
Striae distensae, Hyperextensible skin, Soft skin OMIM:130020
Dermatitis, Atopic
Atopic dermatitis, Eczematoid dermatitis, Dry skin, Pallor, Ichthyosis, Facial erythema, Pruritus... OMIM:603165
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Dry skin, Palmoplantar keratoderma, Scaling skin OMIM:618373
Ichthyosis Prematurity Syndrome
Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma, Epidermal acanthosis, Pruritus OMIM:608649
Sjögren-Larsson Syndrome
Erythema, Hyperkeratosis, Ichthyosis, Dry skin ORPHA:816
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in fle... OMIM:601952
Acrokeratosis Verruciformis Of Hopf
Epidermal acanthosis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis ORPHA:79151
Ichthyosis, Congenital, Autosomal Recessive 1
Congenital ichthyosiform erythroderma, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Er... OMIM:242300
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosifo... OMIM:606545
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar keratoderma, Palmoplantar scaling skin, Palmoplantar erythema, Palmoplantar hyperker... OMIM:605676
Diffuse Cutaneous Mastocytosis
Thickened skin, Pruritus, Erythroderma, Scaling skin ORPHA:79456
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Epidermal ac... ORPHA:38
Pseudoxanthoma Elasticum
Striae distensae, Skin rash, Hyperextensible skin, Excessive wrinkled skin, Lack of skin elastici... ORPHA:758
Lichen Planopilaris
Pruritus, Hyperkeratosis, Skin ulcer ORPHA:525
Intermediate Osteopetrosis
Cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, Abnormality of bone min... ORPHA:210110
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Skin vesicle, Acantholysis, Pr... ORPHA:555905
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosi... OMIM:602540
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... OMIM:166600
Eczematoid dermatitis, Cutis laxa, Erysipelas, Premature skin wrinkling ORPHA:228240
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Pityriasis Rubra Pilaris
Thickened skin, Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Ichthy... ORPHA:2897
Eczematoid dermatitis, Ichthyosis, Scaling skin ORPHA:79323
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Palmoplantar keratoderma, Focal friction-related palmoplantar hyperkera... ORPHA:2200
Antisynthetase Syndrome
Pruritus, Skin rash, Lack of skin elasticity ORPHA:81
Ichthyosis, Congenital, Autosomal Recessive 2
Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Hypergranulosis, Epide... OMIM:242100
Immunodeficiency 58
Eczematoid dermatitis, Cutaneous abscess, Chronic mucocutaneous candidiasis, Molluscum contagiosu... OMIM:618131
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Cutis Laxa, Autosomal Recessive, Type Iib
Redundant skin, Excessive wrinkled skin, Lack of skin elasticity OMIM:612940
Woolly Hair-Skin Fragility Syndrome
Acantholysis, Palmoplantar keratoderma OMIM:620415
Werner Syndrome
Hyperkeratosis, Skin ulcer, Lack of skin elasticity ORPHA:902
Osteopetrosis, Autosomal Recessive 9
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Congenital Disorder Of Glycosylation, Type Iq
Eczematoid dermatitis, Dry skin, Ichthyosis, Cutis laxa, Hyperkeratosis OMIM:612379
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis OMIM:618546
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... OMIM:144750
Baralle-Macken Syndrome
Striae distensae, Acanthosis nigricans OMIM:619255
Schopf-Schulz-Passarge Syndrome
Dry skin, Palmoplantar keratoderma, Hyperkeratosis OMIM:224750
Intellectual Developmental Disorder, Autosomal Dominant 62
Striae distensae OMIM:618793
Darier-White Disease
Subungual hyperkeratotic fragments, Acantholysis, Pruritus, Acrokeratosis OMIM:124200
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lack of skin elasticity OMIM:615381
Dowling-Degos Disease
Hyperkeratotic papule, Acne inversa, Skin vesicle, Pruritus, Hyperkeratosis ORPHA:79145
Palmoplantar Keratoderma And Congenital Alopecia 1
Plantar hyperkeratosis, Palmoplantar erythema, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Palmoplantar keratoderma, Dry skin, Facial erythema, Follicular hyperkeratosis OMIM:308800
Kid Syndrome
Folliculitis, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Acne inversa, Psor... ORPHA:477
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Dry skin, Ichthyosis, Parakeratosis, Acanthosis nigricans, Epidermal acanthosis, Hyperkeratosis OMIM:618527
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma OMIM:615735
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis OMIM:173200
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Striae distensae, Petechiae, Hyperextensible skin OMIM:225310
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis ORPHA:89843
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
8Q22.1 Microdeletion Syndrome
Lack of skin elasticity ORPHA:178303
Olmsted Syndrome 1
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hyperparakeratosis, Periorifi... OMIM:614594
Proteus Syndrome
Epidermal acanthosis, Hyperkeratosis OMIM:176920
Psoriasis 14, Pustular
Erythema, Psoriasiform dermatitis, Pustule, Parakeratosis, Epidermal acanthosis OMIM:614204
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Psoriasiform dermatitis, Ichthyosis, E... OMIM:615508
Ectodermal Dysplasia-Skin Fragility Syndrome
Palmoplantar keratoderma, Chapped lip, Follicular hyperkeratosis, Scaling skin, Pruritus, Recurre... ORPHA:158668
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Cutis laxa, Redundant skin, Increased number of skin folds ORPHA:436274
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis, Hyperextensible skin ORPHA:300179
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Moynahan Syndrome
Hyperkeratosis ORPHA:2574
Mitral Valve Prolapse 1
Striae distensae OMIM:157700
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
X-Linked Dominant Chondrodysplasia Punctata
Erythroderma, Ichthyosis, Scaling skin ORPHA:35173
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Abnormal elasticity of skin, Follicular hyperkeratosis ORPHA:486815
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Dry skin, Facial erythema, Scaling skin, Sclerodactyly ORPHA:1010
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczematoid dermatitis, Psoriasiform dermatitis, Erythroderma, Scaling skin, Chronic oral candidiasis OMIM:606367
Keratoderma Hereditarium Mutilans
Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis ORPHA:494
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Ectodermal Dysplasia-Syndactyly Syndrome 2
Follicular hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma OMIM:613576
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Follicular hyperkeratosis OMIM:615147
Basan Syndrome
Epidermal acanthosis, Palmoplantar keratoderma OMIM:129200
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:616029
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Epidermal acanthosis, Follicular hyperkeratosis OMIM:613102
Leopard Syndrome 3
Dry skin, Hyperkeratosis, Epidermal hyperkeratosis OMIM:613707
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Pathologic fracture, Osteomyelitis, Femur fracture, Osteopetrosis, Calvarial o... OMIM:259700
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Skin ulcer, Penetrating foot ulcers ORPHA:36386
Neonatal Inflammatory Skin And Bowel Disease
Erythema, Chapped lip, Psoriasiform dermatitis, Pustule, Scaling skin, Recurrent bacterial skin i... ORPHA:294023
Prolidase Deficiency
Erythema, Palmoplantar keratoderma, Skin ulcer, Dry skin, Crusting erythematous dermatitis, Pruri... ORPHA:742
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma... ORPHA:90650
Noonan Syndrome 8
Palmoplantar cutis laxa, Hyperkeratosis, Eczematoid dermatitis, Hyperextensible skin OMIM:615355
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Parakeratosis, Hyperkeratosis OMIM:618339
Amelo-Onycho-Hypohidrotic Syndrome
Dry skin, Hyperkeratosis ORPHA:1028
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis OMIM:618625
Chronic Mucocutaneous Candidiasis
Erythema, Skin ulcer, Skin rash, Pruritus, Hyperkeratosis ORPHA:1334
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Orthokeratosis, Dry skin, Ichthyosis, Parakeratosis, Epidermal acanthosis, Pruritus OMIM:607626
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Small for gestational age, Increased bone mineral density OMIM:616943
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Congenital Disorder Of Glycosylation, Type Im
Dry skin, Inflammatory abnormality of the skin, Hyperkeratosis, Ichthyosis OMIM:610768
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Joint hypermobility, Decreased body weight, Limitation of knee mo... OMIM:614856
Chronic Actinic Dermatitis
Eczematoid dermatitis, Erythroderma, Late onset atopic dermatitis, Epidermal acanthosis, Pruritus ORPHA:330064
Familial Cervical Artery Dissection
Striae distensae ORPHA:36382
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limitation of joint mobility, Failure to thrive, Osteoarthritis of the distal... ORPHA:93284
Harlequin Ichthyosis
Ichthyosis, Erythroderma, Hyperkeratosis, Congenital ichthyosiform erythroderma ORPHA:457
Neu-Laxova Syndrome
Ichthyosis, Lack of skin elasticity ORPHA:2671
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Cutis laxa, Redundant skin ORPHA:91135
Mass Syndrome
Striae distensae OMIM:604308
Maxillonasal Dysplasia
Striae distensae ORPHA:1248
Recon Progeroid Syndrome
Dry skin, Scaling skin OMIM:620370
Majeed Syndrome
Failure to thrive, Osteomyelitis, Increased susceptibility to fractures, Synovitis, Cachexia, Wei... ORPHA:77297
Graft Versus Host Disease
Maculopapular exanthema, Inflammatory abnormality of the skin, Scaling skin ORPHA:39812
Rat-Bite Fever
Morbilliform rash, Skin rash, Pustule, Erythema nodosum, Scaling skin, Maculopapular exanthema ORPHA:31205
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Decreased body weight OMIM:617306
Diastrophic Dysplasia
Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger ORPHA:628
Pemphigus Erythematosus
Acantholysis, Malar rash ORPHA:79480
Variegate Porphyria, Childhood-Onset
Atopic dermatitis, Epidermal hyperkeratosis OMIM:620483
Cutis Laxa, Autosomal Dominant 2
Cutis laxa, Premature skin wrinkling OMIM:614434
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Weill-Marchesani Syndrome 2
Thickened skin, Striae distensae, Lack of skin elasticity OMIM:608328
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Hyperkeratotic papule, Pruritus, Skin vesicle ORPHA:79410
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Osteomyelitis, Generalized osteosclerosis, Arthritis, Osteoarthritis, R... ORPHA:53
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... ORPHA:85188
Granulomatous Slack Skin
Erythema, Cutis laxa, Redundant skin ORPHA:33111
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Erythroderma ORPHA:169154
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Recurrent fractures, Increased b... ORPHA:1782
Lipoid Proteinosis
Pustule, Thickened skin, Hyperkeratosis, Acne ORPHA:530
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Delayed patellar ossification, Abnormal bone ossification ORPHA:163649
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Cutaneous abscess, Scaling skin ORPHA:101330
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lack of skin elasticity ORPHA:90153
Warty Dyskeratoma
Acrokeratosis, Acantholysis, Epidermal thickening ORPHA:69745
Bacterial Toxic-Shock Syndrome
Recurrent skin infections, Skin rash, Scaling skin, Ecchymosis ORPHA:36234
Autoinflammation With Arthritis And Dyskeratosis
Dry skin, Palmoplantar hyperkeratosis, Epidermal acanthosis, Follicular hyperkeratosis OMIM:617388
Lymphatic Malformation 4
Hyperkeratosis OMIM:615907
Odontoonychodermal Dysplasia
Erythema, Orthokeratosis, Hypergranulosis, Dry skin, Palmoplantar erythema, Palmoplantar hyperker... OMIM:257980
Ichthyosis, Congenital, Autosomal Recessive 11
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:602400
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Follicular hyperkeratosis OMIM:615225
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Osteopetrosis, Decreased osteoclas... OMIM:259710
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Failure to thrive OMIM:615085
Hidrotic Ectodermal Dysplasia
Hyperkeratotic papule, Thickened skin, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis,... ORPHA:189
Riddle Syndrome
Erythema, Chromosomal breakage induced by ionizing radiation, Scaling skin ORPHA:420741
Punctate Palmoplantar Keratoderma Type 1
Hyperkeratotic papule, Abnormal epidermal morphology, Orthokeratosis, Palmoplantar keratoderma, H... ORPHA:79501
Ramon Syndrome
Hyperkeratosis ORPHA:3019
Autosomal Recessive Cutis Laxa Type 1
Cutis laxa, Redundant skin, Lack of skin elasticity ORPHA:90349
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Failure to thrive, Increased bone mineral density, Ankylosis, Osteoporosis, Recurrent... OMIM:239000
Camurati-Engelmann Disease
Slender build, Sclerosis of skull base, Cortical thickening of long bone diaphyses, Increased bon... OMIM:131300
Pseudohypoparathyroidism Type 1B
Increased bone mineral density, Increased bone density with cystic changes, Diaphyseal sclerosis ORPHA:94089
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:281090
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Ehlers-Danlos Syndrome, Classic-Like, 1
Striae distensae, Hyperextensible skin, Soft skin OMIM:606408
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Pemphigus Vulgaris
Acantholysis, Recurrent cutaneous abscess formation ORPHA:704
Geleophysic Dysplasia 1
Thickened skin, Lack of skin elasticity OMIM:231050
Naxos Disease
Subungual hyperkeratosis, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Epiderma... OMIM:601214
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Striae distensae OMIM:300354
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Pustule, Epidermal acanthosis, Hyperkeratosis, Skin rash OMIM:612852
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Thickened skin, Erysipelas, Skin ulcer, Dry skin, Scaling skin ORPHA:2526
Neonatal Lupus Erythematosus
Malar rash, Skin rash, Parakeratosis, Maculopapular exanthema, Hyperkeratosis ORPHA:398124
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
Coronal craniosynostosis, Increased susceptibility to fractures, Joint hypermobility, Generalized... ORPHA:763
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar hyperkeratosis, Palmoplantar keratoderma ORPHA:2698
Huriez Syndrome
Epidermal acanthosis, Congenital palmoplantar hyperkeratosis OMIM:181600
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Meige Disease
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Recurrent skin infections, ... ORPHA:90186
Immunodeficiency, Common Variable, 8, With Autoimmunity
Psoriasiform lesion, Erythema nodosum OMIM:614700
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability, Sclerodactyly, Scleroderma OMIM:181750
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Orthokeratosis, Eczematoid dermatitis, Acne inversa OMIM:617337
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Skin ulcer ORPHA:1806
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper... ORPHA:2780
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Subungual hyperkeratosis, Eczematoid dermatitis, Dry skin, Follicular hy... OMIM:308205
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Hyperkeratotic papule, Pruritus, Hyperkeratosis, Hyperparakeratosis ORPHA:182
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Palmoplantar keratoderma, Ichthyosis OMIM:609528
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Epidermal acanthosis OMIM:616069
Netherton Syndrome
Eczematoid dermatitis, Parakeratosis, Erythroderma, Recurrent skin infections, Congenital nonbull... OMIM:256500
Psoriasis-Related Juvenile Idiopathic Arthritis
Malar rash, Psoriasiform lesion, Psoriasiform dermatitis, Skin rash, Pruritus ORPHA:85436
Congenital Disorder Of Glycosylation, Type Iil
Dry skin, Hyperkeratosis OMIM:614576
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis ORPHA:79279
Atypical Werner Syndrome
Hyperkeratosis, Skin ulcer, Lack of skin elasticity ORPHA:79474
Hypohidrotic Ectodermal Dysplasia
Dry skin, Hyperkeratosis, Eczematoid dermatitis ORPHA:238468
Congenital Syphilis
Palmoplantar scaling skin, Purpura, Petechiae, Maculopapular exanthema ORPHA:499009
Linear Verrucous Nevus Syndrome
Hyperkeratosis ORPHA:2611
Trichothiodystrophy 1, Photosensitive
Dry skin, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma OMIM:601675
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Myoectodermal Gonadal Dysgenesis Syndrome
Dry skin, Scaling skin OMIM:618419
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... ORPHA:289176
Radio-Tartaglia Syndrome
Dry skin, Striae distensae OMIM:619312
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis OMIM:615279
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis ORPHA:1883
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Ectopia Lentis 1, Isolated, Autosomal Dominant
Striae distensae OMIM:129600
Spinocerebellar Ataxia 34
Erythroderma, Epidermal hyperkeratosis OMIM:133190
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Cutis laxa OMIM:614100
Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibility to fracture... OMIM:224300
Milroy Disease
Hyperkeratosis, Erysipelas ORPHA:79452
Follicular hyperkeratosis ORPHA:573
Restrictive Dermopathy
Dermal translucency, Scaling skin, Epidermal hyperkeratosis, Generalized hyperkeratosis ORPHA:1662
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis OMIM:609638
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Congenital Disorder Of Glycosylation, Type Iir
Cutis laxa OMIM:301045
Increased bone mineral density, Osteopetrosis, Failure to thrive ORPHA:35107
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis ORPHA:1839
Pituitary Adenoma 4, Acth-Secreting
Striae distensae, Facial erythema, Purpura, Ecchymosis OMIM:219090
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Cardiofaciocutaneous Syndrome
Palmoplantar keratoderma, Dry skin, Redundant skin, Ichthyosis, Excessive wrinkled skin, Hyperext... ORPHA:1340
Pachyonychia Congenita 3
Palmoplantar keratoderma, Chapped lip, Follicular hyperkeratosis, Palmar hyperkeratosis, Plantar ... OMIM:615726
Parkes Weber Syndrome
Skin ulcer, Scaling skin ORPHA:90307
Perifollicular hyperkeratosis OMIM:158000
Lymphatic Malformation 12
Hyperkeratosis OMIM:620014
Trichothiodystrophy 8, Nonphotosensitive
Cutis laxa, Eczematoid dermatitis OMIM:619691
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Palmoplantar keratoderma, Hyperkeratosis, Skin rash OMIM:604173
Gaucher Disease, Perinatal Lethal
Petechiae, Ichthyosis, Hyperkeratosis, Purpura, Congenital nonbullous ichthyosiform erythroderma OMIM:608013
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hyperkeratosis OMIM:301108
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Craniofacial osteosclerosis, Increased skull ossification, Diaphyseal sclerosis OMIM:618476
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Osteopetrosis, Cranial hyperostosis, Decreased osteoclast count OMIM:259720
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Orthokeratosis, Congenital ichthyosiform erythroderma, Parakeratosis, Epidermal acantho... OMIM:308050
Acth-Independent Macronodular Adrenal Hyperplasia
Striae distensae OMIM:219080
Hidrotic Ectodermal Dysplasia, Halal Type
Follicular hyperkeratosis ORPHA:1809
Restrictive Dermopathy 1
Scaling skin, Epidermal hyperkeratosis OMIM:275210
Pigmented Nodular Adrenocortical Disease, Primary, 2
Striae distensae OMIM:610475
Pachyonychia Congenita
Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar keratoderma, Follicular h... ORPHA:2309
Arthrogryposis And Ectodermal Dysplasia
Dry skin, Hyperkeratosis OMIM:601701
12Q14 Microdeletion Syndrome
Osteopoikilosis, Failure to thrive ORPHA:94063
Sialidosis Type 1
Hyperkeratosis ORPHA:812
Poems Syndrome
Sclerosis of foot bone, Sclerosis of skull base, Weight loss, Sclerosis of hand bone ORPHA:2905
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Failure to thrive, Camptodactyly of finger, Carpal synostosis, Increa... ORPHA:90652
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Dermal translucency, Epidermal hyperkeratosis OMIM:137940
Loeys-Dietz Syndrome 4
Striae distensae, Cutis laxa, Hyperextensible skin, Soft skin OMIM:614816
Tyrosinemia Type 2
Palmoplantar keratoderma, Hyperkeratosis ORPHA:28378
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Small for gestational age, Increased bone mineral density OMIM:127000
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Fibromuscular Dysplasia, Multifocal
Soft, doughy skin, Striae distensae, Hyperextensible skin, Dermal translucency, Soft skin OMIM:619329
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Erythema, Atopic dermatitis, Dry skin, Ichthyosis, Facial erythema, Cutis laxa, Scaling skin OMIM:619503
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Joint stiffness, Hip contracture, Decreased body weight, Wrist flex... ORPHA:800
Hutchinson-Gilford Progeria Syndrome
Premature skin wrinkling, Lack of skin elasticity ORPHA:740
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology ORPHA:398189
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m... ORPHA:2658
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis ORPHA:163966
Donohue Syndrome
Acanthosis nigricans, Hyperkeratosis OMIM:246200
Kanzaki Disease
Dry skin, Hyperkeratosis, Petechiae OMIM:609242
Erdheim-Chester Disease
Increased bone mineral density, Weight loss, Osteolysis, Osteomyelitis ORPHA:35687
Toxic Epidermal Necrolysis
Erythema, Acantholysis, Skin ulcer ORPHA:537
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Hyperkeratosis, Ichthyosis OMIM:148210
Osteopetrosis, Autosomal Recessive 3
Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis OMIM:259730
Incontinentia Pigmenti
Erythema, Maculopapular exanthema, Hyperkeratosis, Pallor OMIM:308300
Noonan Syndrome 10
Palmoplantar cutis laxa, Hyperkeratosis, Hyperextensible skin OMIM:616564
Bone Marrow Failure Syndrome 3
Chromosome breakage, Hyperkeratosis, Eczematoid dermatitis OMIM:617052
Osteopenia, Craniosynostosis, Multiple joint contractures, Increased bone mineral density ORPHA:33364
Pseudohypoparathyroidism Type 1A
Ectopic ossification, Obesity, Increased bone mineral density, Reduced bone mineral density, Hype... ORPHA:79443
X-Linked Hypophosphatemia
Limitation of joint mobility, Rickets, Generalized osteosclerosis, Arthritis, Enthesitis, Cranios... ORPHA:89936
Oculocutaneous Albinism Type 1A
Thickened skin, Hyperkeratosis ORPHA:79431
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hyperkeratosis, Ichthyosis ORPHA:1005
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Cutis laxa OMIM:610842
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Obesity, Ectopic ossification ORPHA:79444
Raine Syndrome
Increased bone mineral density, Arthrogryposis multiplex congenita, Subperiosteal bone formation OMIM:259775
Lethal Acantholytic Erosive Disorder
Acantholysis ORPHA:158687
Pigmented Nodular Adrenocortical Disease, Primary, 1
Striae distensae OMIM:610489
Joint contracture of the hand, Generalized osteosclerosis, Arthrogryposis multiplex congenita, Fa... OMIM:602398
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Striae distensae, Acne ORPHA:189427
Incontinentia Pigmenti
Skin rash, Erythema, Hyperkeratosis, Skin ulcer ORPHA:464
Cardiac Valvular Dysplasia, X-Linked
Cutis laxa OMIM:314400
Cobblestone-like hyperkeratosis, Recurrent bacterial skin infections ORPHA:2583
Stevens-Johnson Syndrome
Erythema, Acantholysis ORPHA:36426
Macs Syndrome
Redundant skin, Ichthyosis, Hyperextensible skin, Cutis laxa, Soft skin OMIM:613075
Kawasaki Disease
Palmoplantar erythema, Skin rash, Scaling skin on fingertip ORPHA:2331
Adrenocortical Carcinoma
Striae distensae ORPHA:1501
Trichorhinophalangeal Syndrome, Type Iii
Epidermal hyperkeratosis OMIM:190351
Gaucher Disease Type 3
Increased bone mineral density, Increased susceptibility to fractures, Osteolysis ORPHA:77261
Woodhouse-Sakati Syndrome
Scaling skin ORPHA:3464
Gaucher Disease
Osteopenia, Osteolysis, Pathologic fracture, Osteomyelitis, Joint stiffness, Osteoarthritis, Incr... ORPHA:355
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cutis laxa, Follicular hyperkeratosis, Hyperextensible skin, Soft skin OMIM:614557
Chime Syndrome
Erythema, Hyperkeratosis, Ichthyosis, Skin ulcer ORPHA:3474
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Eczematoid dermatitis, Hyperkeratosis, Ichthyosis, Hyperextensible skin OMIM:607721
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hyperkeratosis OMIM:301220
Bethlem Muscular Dystrophy
Hyperkeratosis ORPHA:610
Ullrich Congenital Muscular Dystrophy 1A
Follicular hyperkeratosis OMIM:254090
Kindler Epidermolysis Bullosa
Erythema, Palmoplantar keratoderma, Recurrent skin infections, Hyperkeratosis ORPHA:2908