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Gene: Snap29 MGI:1914724

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Gene Summary

Name:
synaptosomal-associated protein 29
Synonyms:
1300018G05Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased lean body mass Snap29tm1a(EUCOMM)Wtsi HET Early adult 1.35×10-05
increased bone mineral content Snap29tm1a(EUCOMM)Wtsi HET Early adult 2.60×10-06
increased bone mineral density Snap29tm1a(EUCOMM)Wtsi HET Early adult 1.04×10-05
increased body length Snap29tm1a(EUCOMM)Wtsi HET Early adult 2.74×10-05

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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.

Histopathology

Images

5 Images

View images
Legacy Phenotype Associated Images
Snap29tm1a(EUCOMM)Wtsi
body, WT, Female, WTSI
Snap29tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Snap29tm1a(EUCOMM)Wtsi
body, WT, Female, WTSI
Snap29tm1a(EUCOMM)Wtsi
body, WT, Female, WTSI
Snap29tm1a(EUCOMM)Wtsi
WT, Female, WTSI

View all 79 images

Snap29tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Snap29tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Snap29tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ichthyosis, Congenital, Autosomal Recessive 14
Congenital nonbullous ichthyosiform erythroderma, Erythema, Scaling skin, Orthokeratotic hyperker... OMIM:617571
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin OMIM:146590
Peeling Skin Syndrome 5
Scaling skin, Hyperkeratosis, Epidermal acanthosis OMIM:617115
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Erythema, Diffuse palmoplantar hyperkeratosis, Atopic dermatitis, Palmoplantar scaling skin, Dry ... ORPHA:530838
Epidermolytic Hyperkeratosis 1
Congenital bullous ichthyosiform erythroderma, Scaling skin, Palmoplantar hyperkeratosis, Epiderm... OMIM:113800
Peeling Skin Syndrome 6
Atopic dermatitis, Parakeratosis, Dry skin, Scaling skin, Pruritus, Orthokeratosis OMIM:618084
Huriez Syndrome
Dry skin, Lack of skin elasticity, Palmoplantar keratoderma, Sclerodactyly ORPHA:384
Acrokeratosis Verruciformis
Acrokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Epidermal acanthosis OMIM:101900
Psoriasis 2
Parakeratosis, Scaling skin, Psoriasiform dermatitis, Hyperkeratosis, Epidermal acanthosis OMIM:602723
Palmoplantar Keratoderma, Nagashima Type
Palmoplantar hyperkeratosis, Epidermal acanthosis, Orthokeratotic hyperkeratosis, Hypergranulosis OMIM:615598
Ichthyosis, Congenital, Autosomal Recessive 6
Congenital nonbullous ichthyosiform erythroderma, Generalized ichthyosis, Parakeratosis, Dry skin... OMIM:612281
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Erythema, Palmoplantar hyperkeratosis, Hyperker... OMIM:617526
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis OMIM:146750
Ichthyosis, Annular Epidermolytic, 2
Ichthyosis, Erythema, Scaling skin, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Orthok... OMIM:620148
Peeling Skin Syndrome 4
Ichthyosis, Scaling skin, Palmoplantar keratoderma, Orthokeratosis, Epidermal acanthosis, Hyperke... OMIM:607936
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis ORPHA:464318
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Erythema, Lack of skin elasticity, Localized epidermolytic hyperkeratosis ORPHA:281127
Porokeratosis Plantaris Palmaris Et Disseminata
Pruritus, Porokeratosis, Hyperkeratotic papule, Palmoplantar hyperkeratosis ORPHA:737
Idiopathic Localized Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Scaling skin, Pruritus, Morphea, Scleroderma ORPHA:90158
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Follicular hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... OMIM:613000
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Subungual hyperk... OMIM:148730
Ichthyosis, Annular Epidermolytic, 1
Hyperparakeratosis, Ichthyosis, Erythema, Congenital bullous ichthyosiform erythroderma, Scaling ... OMIM:607602
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis OMIM:617574
Keratoderma Hereditarium Mutilans With Ichthyosis
Congenital nonbullous ichthyosiform erythroderma, Generalized ichthyosis, Parakeratosis, Honeycom... ORPHA:79395
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Hyperkeratosis, Palmoplantar keratoderma OMIM:244850
Porokeratosis Of Mibelli
Pruritus, Porokeratosis, Hyperkeratosis ORPHA:735
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus on foot, Eczematoid dermatitis, Palmoplantar erythema, Facial erythema, Parakeratosis, S... ORPHA:64745
Peeling Skin Syndrome 3
Pruritus, Erythema, White scaling skin OMIM:616265
Ichthyosis, Congenital, Autosomal Recessive 5
Congenital nonbullous ichthyosiform erythroderma, Parakeratosis, White scaling skin, Palmoplantar... OMIM:604777
Dowling-Degos Disease 4
Pruritus, Epidermal acanthosis, Hypergranulosis OMIM:615696
Bathing Suit Ichthyosis
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Parakeratosis, Palmoplantar scaling... ORPHA:100976
Acral Peeling Skin Syndrome
Ichthyosis, Erythema, Excessive wrinkling of palmar skin, Scaling skin, Eczema ORPHA:263534
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmar pruritus, Exce... ORPHA:498359
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Maculopapular exanthema, Inflammatory abnormality of the skin, Pruritus, A... ORPHA:79147
Bazex Syndrome
Parakeratosis, Scaling skin, Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Acanthosis nigri... ORPHA:166113
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis, Palmoplantar keratoderma OMIM:612908
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Acquired Ichthyosis
Ichthyosis, Erythema, Dry skin, Pruritus, Recurrent skin infections, Palmoplantar keratoderma, Hy... ORPHA:454
Ulerythema Ophryogenesis
Hyperkeratotic papule, Facial erythema, Follicular hyperkeratosis, Dry skin, Contact dermatitis, ... ORPHA:3406
Mal De Meleda
Ichthyosis, Superficial dermal perivascular inflammatory infiltrate, Erythema, Inflammatory abnor... ORPHA:87503
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Lamellar Ichthyosis
Ichthyosis, Dry skin, Lack of skin elasticity, Pruritus, Hyperkeratosis, Erythroderma ORPHA:313
Atrophoderma Vermiculata
Hyperkeratotic papule, Erythema, Follicular hyperkeratosis, Pruritus, Abnormal epidermal morphology ORPHA:79100
Ichthyosis With Confetti
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Scaling skin, Pruritus, Palmoplanta... OMIM:609165
Elastosis Perforans Serpiginosa
Epidermal acanthosis, Hyperkeratotic papule, Cutis laxa, Crusting erythematous dermatitis ORPHA:79148
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Punctate palmoplantar hyperkeratosis, Follicular hyperkeratosis, Dry skin, Scaling skin, Pruritus... OMIM:616295
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Superficial dermal perivascular inflammatory infiltrate, Predominantly dermal neutrophilic infilt... ORPHA:284426
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Ichthyosis Vulgaris
Eczematoid dermatitis, Dry skin, Absent keratohyalin granules, Ichthyosis OMIM:146700
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
Increased bone mineral density, Clavicular sclerosis, Failure to thrive OMIM:615198
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Parakeratosis, Scaling skin, Pruritus, Hyperkeratosis, Epidermal acanthosis ORPHA:90368
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Tall stature, Obesity OMIM:618406
Buschke-Ollendorff Syndrome
Flexion contracture, Osteopoikilosis, Joint stiffness OMIM:166700
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Lack of skin elasticity, Palmoplantar keratoderma ORPHA:1366
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Amyloidosis, Primary Localized Cutaneous, 1
Pruritus, Dry skin, Scaling skin OMIM:105250
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized ichthyosis, Generalized hyperkeratosis, Dry skin, Scaling skin, Cutis laxa, Epidermal... ORPHA:2269
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Ichthyosis, Congenital, Autosomal Recessive 8
Ichthyosis, Erythema, Hypergranulosis, Orthokeratosis, Epidermal acanthosis, Hyperkeratosis OMIM:613943
Palmoplantar Keratoderma And Congenital Alopecia 2
Facial erythema, Sclerodactyly, Dry skin, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:212360
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Pemphigus Foliaceus
Erythema, Scaling skin, Pruritus, Skin vesicle, Psoriasiform dermatitis, Acantholysis, Pustule, C... ORPHA:79481
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Dowling-Degos Disease 2
Follicular hyperkeratosis, Hyperkeratotic papule OMIM:615327
Ichthyosis, Congenital, Autosomal Recessive 10
Congenital nonbullous ichthyosiform erythroderma, Generalized ichthyosis, Hypergranulosis, Orthok... OMIM:615024
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Erythema, Dry skin, Scaling skin, H... OMIM:614457
Autosomal Dominant Epidermolytic Ichthyosis
Ichthyosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Hyperkeratos... ORPHA:312
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis ORPHA:79503
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
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, Epidermal acanth... OMIM:133200
Chilblain Lupus
Malar rash, Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Pruritis on hand... ORPHA:90280
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis, Epidermal acanthosis, Hyperk... OMIM:617525
Sclerosteosis
Craniofacial hyperostosis, Tall stature, Abnormal cortical bone morphology, Increased bone minera... ORPHA:3152
Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Hypergranulosis, Epidermal hyperkeratosis, Palmoplantar hype... ORPHA:2199
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Hyperkeratosis Lenticularis Perstans
Pruritus, Skin ulcer, Hyperkeratosis lenticularis perstans ORPHA:409
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Erythema, Diffuse palmoplantar hyperkeratosis, Skin ulcer ORPHA:2337
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
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
Lupus Erythematosus Tumidus
Scaling skin, Deep dermal perivascular inflammatory infiltrate ORPHA:90283
Ichthyosis, Congenital, Autosomal Recessive 7
Ichthyosis, Hypergranulosis, Palmoplantar keratoderma, Epidermal acanthosis, Erythroderma OMIM:615022
Aicardi-Goutieres Syndrome 5
Chilblains, Dry skin, Scaling skin OMIM:612952
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Van Buchem Disease
Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis OMIM:239100
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Failure to thrive, Ecto... ORPHA:2485
Infantile Digital Fibromatosis
Parakeratosis, Hyperkeratosis, Epidermal acanthosis ORPHA:199267
Isolated Osteopoikilosis
Sclerosis of foot bone, Increased bone mineral density, Sclerotic foci in hand bones, Joint stiff... ORPHA:166119
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Classic Mycosis Fungoides
Erythema, Skin rash, Dry skin, Pruritus, Eczema, Hyperkeratosis, Skin ulcer ORPHA:2584
Recessive X-Linked Ichthyosis
Ichthyosis, Dry skin, Hyperkeratosis ORPHA:461
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Congenital Disorder Of Glycosylation, Type If
Dry skin, Hyperkeratosis, Erythroderma, Scaling skin OMIM:609180
Cutaneous Mastocytoma
Erythema, Maculopapular exanthema, Scaling skin, Pruritus, Thickened skin ORPHA:79455
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Skin fragility-woolly hair syndrome
Palmoplantar scaling skin, Palmoplantar hyperkeratosis, Palmoplantar erythema, Acantholysis OMIM:607655
Vulvovaginal Gingival Syndrome
Parakeratosis, Erythema, Epidermal acanthosis, Pruritus ORPHA:83453
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin ORPHA:2812
Anonychia With Flexural Pigmentation
Follicular hyperkeratosis, Hyperkeratosis ORPHA:69125
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Osteoporosis, Increased bone density with cystic... OMIM:136300
Familial Benign Chronic Pemphigus
Erythema, Hyperkeratosis, Skin vesicle, Acantholysis ORPHA:2841
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Thickened cortex of bones, Joint stiffness, Arthritis ORPHA:564003
Olmsted Syndrome, X-Linked
Parakeratosis, Palmoplantar keratoderma, Subungual hyperkeratosis, Palmoplantar hyperkeratosis, H... OMIM:300918
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Lack of skin elasticity, Palmoplantar keratoderma, Thickened skin ORPHA:1979
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Ectodermal Dysplasia/Skin Fragility Syndrome
Palmoplantar hyperkeratosis, Scaling skin OMIM:604536
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Plantar hyperkeratosis, Hyperkeratosis, Palmar hyperkeratosis ORPHA:79399
Peeling Skin Syndrome 1
Pruritus, Scaling skin, Erythroderma OMIM:270300
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Skin vesicle ORPHA:254478
Olmsted Syndrome 2
Parakeratosis, Perioral hyperkeratosis, Pruritus, Palmoplantar keratoderma, Palmoplantar hyperker... OMIM:619208
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:89838
Hypotrichosis 6
Pruritus, Follicular hyperkeratosis, Erythema OMIM:607903
Superficial Epidermolytic Ichthyosis
Ichthyosis, Erythema, Palmoplantar keratoderma, Acantholysis ORPHA:455
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Acne inversa, Recurrent cutaneous abscess formation, Follicular hyperkeratosis, Perifolliculitis,... OMIM:613736
Stiff Skin Syndrome
Lack of skin elasticity, Thickened skin ORPHA:2833
Mueller-Weiss Syndrome
Knee osteoarthritis, Sclerosis of foot bone, Joint stiffness, Arthritis, Limitation of movement a... ORPHA:566943
Leri Pleonosteosis
Lack of skin elasticity, Thickened skin ORPHA:2900
Palmoplantar Keratoderma, Punctate Type Ia
Punctate palmoplantar hyperkeratosis, Orthokeratosis, Epidermal acanthosis, Hypergranulosis OMIM:148600
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Ichthyosis, Erythema, Parakeratosis, Pruritus, Palmoplantar keratoderma, Hyperkeratosis OMIM:615821
Cole Disease
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis, ... OMIM:615522
Ichthyosis, Congenital, Autosomal Recessive 9
Congenital nonbullous ichthyosiform erythroderma, Hypergranulosis, Orthokeratosis, Epidermal acan... OMIM:615023
Lipoid Proteinosis Of Urbach And Wiethe
Reduced epidermal extracellular matrix protein 1 protein expression, Hyperkeratosis, Thickened skin OMIM:247100
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmoplantar hyperkerat... OMIM:148700
Ehlers-Danlos Syndrome, Hypermobility Type
Hyperextensible skin, Soft skin, Striae distensae OMIM:130020
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus OMIM:618531
Classic Phenylketonuria
Eczema, Lack of skin elasticity ORPHA:79254
Erythrokeratodermia Variabilis
Erythema, Skin rash, Dry skin, Patchy palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:317
Irida Syndrome
Ichthyosis, Hyperkeratosis, Pallor ORPHA:209981
Centrifugal Lipodystrophy
Scaling skin, Erythema, Inflammatory abnormality of the skin ORPHA:90156
Costello Syndrome
Hyperkeratosis, Redundant skin, Acanthosis nigricans, Lack of skin elasticity ORPHA:3071
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis, Epidermal acanthosis OMIM:610227
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures OMIM:166740
Vohwinkel Syndrome, Variant Form
Hypergranulosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis, Orthokeratosis, Hyperkerat... OMIM:604117
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones OMIM:607634
Darier Disease
Acrokeratosis, Subungual hyperkeratotic fragments, Pruritus, Palmoplantar keratoderma, Skin vesic... ORPHA:218
White Sponge Nevus 2
Hyperparakeratosis, Epidermal acanthosis OMIM:615785
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Singleton-Merten Syndrome 2
Psoriasiform lesion, Hyperkeratosis OMIM:616298
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Parakeratosis, Pruritus, Skin vesicle, Palmoplantar hyperkeratosis ORPHA:158681
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Dry skin, Palmoplantar keratoderma, Scaling skin OMIM:618373
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Acrokeratosis Verruciformis Of Hopf
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Parakeratosis, Acantholysis, Hyperkeratosi... ORPHA:79151
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Parakeratosis, Honeycomb palmoplant... OMIM:601952
Sjögren-Larsson Syndrome
Erythema, Dry skin, Hyperkeratosis, Ichthyosis ORPHA:816
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis, Epidermal ac... ORPHA:38
Dermatitis, Atopic
Ichthyosis, Atopic dermatitis, Facial erythema, Dry skin, Pruritus, Recurrent skin infections, Ec... OMIM:603165
Ichthyosis, Congenital, Autosomal Recessive 1
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Parakeratosis, Congenital ichthyosi... OMIM:242300
Diffuse Cutaneous Mastocytosis
Pruritus, Scaling skin, Erythroderma, Thickened skin ORPHA:79456
Ichthyosis, Congenital, Autosomal Recessive 3
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Erythema, Palmoplantar keratoderma,... OMIM:606545
Ichthyosis Prematurity Syndrome
Generalized ichthyosis, Follicular hyperkeratosis, Pruritus, Epidermal acanthosis, Erythroderma OMIM:608649
Pseudoxanthoma Elasticum
Skin rash, Lack of skin elasticity, Striae distensae, Pruritus, Acne, Hyperextensible skin, Exces... ORPHA:758
Lichen Planopilaris
Pruritus, Hyperkeratosis, Skin ulcer ORPHA:525
Osteopetrosis, Autosomal Dominant 2
Generalized osteosclerosis, Osteopetrosis, Recurrent fractures, Mandibular osteomyelitis, Fractur... OMIM:166600
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis OMIM:122860
Mpdu1-Cdg
Eczema, Scaling skin, Ichthyosis ORPHA:79323
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Iga Pemphigus
Pruritus, Skin vesicle, Cutaneous abscess, Acantholysis, Pustule, Neutrophilic infiltration of th... ORPHA:555905
Ichthyosis, Hystrix-Like, With Deafness
Ichthyosis, Cobblestone-like hyperkeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosi... OMIM:602540
Elastoderma
Erysipelas, Eczema, Cutis laxa, Premature skin wrinkling ORPHA:228240
Antisynthetase Syndrome
Pruritus, Lack of skin elasticity, Skin rash ORPHA:81
Pityriasis Rubra Pilaris
Ichthyosis, Pruritus, Palmoplantar keratoderma, Subungual hyperkeratosis, Thickened skin, Eczema,... ORPHA:2897
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Immunodeficiency 58
Recurrent cutaneous abscess formation, Ichthyosis, Molluscum contagiosum, Scaling skin, Seborrhei... OMIM:618131
Ichthyosis, Congenital, Autosomal Recessive 2
Congenital nonbullous ichthyosiform erythroderma, Erythema, Hypergranulosis, Palmoplantar keratod... OMIM:242100
Cutis Laxa, Autosomal Recessive, Type Iib
Lack of skin elasticity, Redundant skin, Excessive wrinkled skin OMIM:612940
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Schopf-Schulz-Passarge Syndrome
Dry skin, Hyperkeratosis, Palmoplantar keratoderma OMIM:224750
Intermediate Osteopetrosis
Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormality of bone mineral ... ORPHA:210110
Rare Cutaneous Lupus Erythematosus
Superficial dermal perivascular inflammatory infiltrate, Erythema, Deep dermal perivascular infla... ORPHA:535
Trichothiodystrophy 7, Nonphotosensitive
Follicular hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis OMIM:618546
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture OMIM:620366
Congenital Disorder Of Glycosylation, Type Iq
Ichthyosis, Dry skin, Cutis laxa, Eczema, Hyperkeratosis OMIM:612379
Baralle-Macken Syndrome
Acanthosis nigricans, Striae distensae OMIM:619255
Werner Syndrome
Lack of skin elasticity, Hyperkeratosis, Skin ulcer ORPHA:902
Intellectual Developmental Disorder, Autosomal Dominant 62
Striae distensae OMIM:618793
Kid Syndrome
Acne inversa, Recurrent cutaneous abscess formation, Follicular hyperkeratosis, Scaling skin, Rec... ORPHA:477
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lack of skin elasticity OMIM:615381
Darier-White Disease
Subungual hyperkeratotic fragments, Acrokeratosis, Pruritus, Acantholysis OMIM:124200
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
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma OMIM:615735
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ichthyosis, Parakeratosis, Dry skin, Hyperkeratosis, Epidermal acanthosis, Acanthosis nigricans OMIM:618527
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Facial erythema, Follicular hyperkeratosis, Dry skin, Palmoplantar keratoderma, Folliculitis OMIM:308800
Dowling-Degos Disease
Acne inversa, Hyperkeratotic papule, Pruritus, Skin vesicle, Hyperkeratosis ORPHA:79145
Pityriasis Rubra Pilaris
Hypergranulosis, Parakeratosis, Palmoplantar keratoderma, Subungual hyperkeratosis, Orthokeratosis OMIM:173200
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
Proteus Syndrome
Hyperkeratosis, Epidermal acanthosis OMIM:176920
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Hyperextensible skin, Petechiae, Striae distensae OMIM:225310
Olmsted Syndrome 1
Periorificial hyperkeratosis, Hyperparakeratosis, Parakeratosis, Pruritus, Palmoplantar keratoder... OMIM:614594
Ectodermal Dysplasia-Skin Fragility Syndrome
Follicular hyperkeratosis, Scaling skin, Pruritus, Recurrent skin infections, Palmoplantar kerato... ORPHA:158668
Psoriasis 14, Pustular
Erythema, Parakeratosis, Psoriasiform dermatitis, Pustule, Epidermal acanthosis OMIM:614204
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Increased number of skin folds, Redundant skin, Cutis laxa ORPHA:436274
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis OMIM:231095
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Ichthyosis, Hypergranulosis, Recurrent skin infections, Palmoplantar keratoderma, Psoriasiform de... OMIM:615508
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis, Hyperextensible skin ORPHA:300179
Moynahan Syndrome
Hyperkeratosis ORPHA:2574
X-Linked Dominant Chondrodysplasia Punctata
Ichthyosis, Scaling skin, Erythroderma ORPHA:35173
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Facial erythema, Dry skin, Sclerodactyly, Scaling skin, Palmoplantar keratoderma ORPHA:1010
Mitral Valve Prolapse 1
Striae distensae OMIM:157700
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Scaling skin, Chronic oral candidiasis, Psoriasiform dermatitis, Eczema, Erythroderma OMIM:606367
Hypotrichosis And Recurrent Skin Vesicles
Follicular hyperkeratosis, Epidermal acanthosis, Skin vesicle OMIM:613102
Non Rare In Europe: Buschke-Ollendorff Syndrome
Craniosynostosis, Generalized osteosclerosis, Joint stiffness, Hyperostosis, Arthritis, Recurrent... ORPHA:1306
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Acantholysis ORPHA:704
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Basan Syndrome
Epidermal acanthosis, Palmoplantar keratoderma OMIM:129200
Keratoderma Hereditarium Mutilans
Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis ORPHA:494
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Follicular hyperkeratosis, Dry skin, Abnormal elasticity of skin ORPHA:486815
Ectodermal Dysplasia-Syndactyly Syndrome 2
Congenital bullous ichthyosiform erythroderma, Follicular hyperkeratosis, Palmoplantar keratoderma OMIM:613576
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Follicular hyperkeratosis, Comedonal acne OMIM:615147
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis, Dry skin OMIM:617066
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Paget Disease Of Bone 3
Patchy osteosclerosis, Osteolysis, Fractures of the long bones OMIM:167250
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Porokeratosis
Pruritus, Hyperkeratosis ORPHA:79358
Neonatal Inflammatory Skin And Bowel Disease
Erythema, Recurrent bacterial skin infections, Scaling skin, Psoriasiform dermatitis, Chapped lip... ORPHA:294023
Leopard Syndrome 3
Dry skin, Hyperkeratosis, Epidermal hyperkeratosis OMIM:613707
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Prolidase Deficiency
Erythema, Dry skin, Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Crusting erythematous der... ORPHA:742
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Increased bone mineral density, Pathologic fracture, Calvarial osteosclerosis, ... OMIM:259700
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Abnorma... ORPHA:90650
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer ORPHA:36386
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma OMIM:616029
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Ichthyosis, Parakeratosis, Dry skin, Pruritus, Orthokeratosis, Epidermal acanthosis OMIM:607626
Amelo-Onycho-Hypohidrotic Syndrome
Dry skin, Hyperkeratosis ORPHA:1028
Noonan Syndrome 8
Eczema, Hyperkeratosis, Palmoplantar cutis laxa, Hyperextensible skin OMIM:615355
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis OMIM:618625
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Parakeratosis, Hyperkeratosis OMIM:618339
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Reduced bone mineral density, Osteoporosis, Limitation of knee mo... OMIM:614856
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Pruritus, Eczema, Epidermal acanthosis, Erythroderma ORPHA:330064
Congenital Disorder Of Glycosylation, Type Im
Ichthyosis, Dry skin, Hyperkeratosis, Inflammatory abnormality of the skin OMIM:610768
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Neu-Laxova Syndrome
Ichthyosis, Lack of skin elasticity ORPHA:2671
Chronic Mucocutaneous Candidiasis
Erythema, Skin rash, Pruritus, Hyperkeratosis, Skin ulcer ORPHA:1334
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Redundant skin, Cutis laxa ORPHA:91135
Mass Syndrome
Striae distensae OMIM:604308
Graft Versus Host Disease
Scaling skin, Inflammatory abnormality of the skin, Maculopapular exanthema ORPHA:39812
Harlequin Ichthyosis
Ichthyosis, Hyperkeratosis, Erythroderma, Congenital ichthyosiform erythroderma ORPHA:457
Maxillonasal Dysplasia
Striae distensae ORPHA:1248
Rat-Bite Fever
Morbilliform rash, Maculopapular exanthema, Skin rash, Scaling skin, Pustule, Erythema nodosum ORPHA:31205
Tylosis With Esophageal Cancer
Parakeratosis, Follicular hyperkeratosis, Diffuse palmoplantar hyperkeratosis OMIM:148500
Diastrophic Dysplasia
Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Joint hyperflexibility ORPHA:628
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Knee osteoarthritis, Stiff knee, Abnormal epiphyseal ossification... ORPHA:93284
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Decreased body weight, Osteopetrosis OMIM:617306
Majeed Syndrome
Increased bone mineral density, Cachexia, Failure to thrive, Increased susceptibility to fracture... ORPHA:77297
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Osteoarthritis, Arthritis, Osteomyelitis, Recurrent fractures, Mandib... ORPHA:53
Mednik Syndrome
Ichthyosis, Hyperkeratosis ORPHA:171851
Geleophysic Dysplasia 1
Lack of skin elasticity, Thickened skin OMIM:231050
Familial Cervical Artery Dissection
Striae distensae ORPHA:36382
Cutis Laxa, Autosomal Dominant 2
Cutis laxa, Premature skin wrinkling OMIM:614434
Weill-Marchesani Syndrome 2
Lack of skin elasticity, Thickened skin, Striae distensae OMIM:608328
Dysosteosclerosis
Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Increased bone mineral density, ... ORPHA:1782
Metaphyseal Dysplasia, Braun-Tinschert Type
Increased bone mineral density, Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of pr... ORPHA:85188
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Pemphigus Erythematosus
Malar rash, Acantholysis ORPHA:79480
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Erythroderma ORPHA:169154
Lipoid Proteinosis
Acne, Hyperkeratosis, Thickened skin, Pustule ORPHA:530
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lack of skin elasticity ORPHA:90153
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Scaling skin, Cutaneous abscess ORPHA:101330
Bacterial Toxic-Shock Syndrome
Recurrent skin infections, Scaling skin, Skin rash, Ecchymosis ORPHA:36234
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification ORPHA:163649
Odontoonychodermal Dysplasia
Erythema, Palmoplantar erythema, Hypergranulosis, Follicular hyperkeratosis, Plantar hyperkeratos... OMIM:257980
Autoinflammation With Arthritis And Dyskeratosis
Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Epidermal acanthosis, Dry skin OMIM:617388
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Follicular hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma OMIM:615225
Ichthyosis, Congenital, Autosomal Recessive 11
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:602400
Warty Dyskeratoma
Acrokeratosis, Epidermal thickening, Acantholysis ORPHA:69745
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Failure to thrive OMIM:615085
Lymphatic Malformation 4
Hyperkeratosis OMIM:615907
Osteopetrosis, Autosomal Recessive 2
Diaphyseal sclerosis, Osteopetrosis, Osteomyelitis, Recurrent fractures, Cranial hyperostosis, Ma... OMIM:259710
Riddle Syndrome
Scaling skin, Erythema, Chromosomal breakage induced by ionizing radiation ORPHA:420741
Hidrotic Ectodermal Dysplasia
Hyperkeratotic papule, Cobblestone-like hyperkeratosis, Palmoplantar keratoderma, Thickened skin,... ORPHA:189
Punctate Palmoplantar Keratoderma Type 1
Hyperkeratotic papule, Hypergranulosis, Palmoplantar keratoderma, Abnormal epidermal morphology, ... ORPHA:79501
Ramon Syndrome
Hyperkeratosis ORPHA:3019
Paget Disease Of Bone 5, Juvenile-Onset
Increased bone mineral density, Osteoporosis, Ankylosis, Osteopenia, Failure to thrive, Recurrent... OMIM:239000
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Camurati-Engelmann Disease
Diaphyseal sclerosis, Increased bone mineral density, Slender build, Cortical thickening of long ... OMIM:131300
Syndromic Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis ORPHA:281090
Ehlers-Danlos Syndrome, Classic-Like
Hyperextensible skin, Soft skin, Striae distensae OMIM:606408
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Striae distensae OMIM:300354
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Follicular hyperkeratosis, Dry skin, Scaling skin, Perianal erythema, Recurrent skin infections, ... OMIM:308205
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Autosomal Recessive Cutis Laxa Type 1
Lack of skin elasticity, Cutis laxa, Redundant skin ORPHA:90349
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Scleroderma, Familial Progressive
Abnormality of chromosome stability, Sclerodactyly, Chromosome breakage, Scleroderma OMIM:181750
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Erysipelas, Dry skin, Scaling skin, Thickened skin, Skin ulcer ORPHA:2526
Huriez Syndrome
Epidermal acanthosis, Congenital palmoplantar hyperkeratosis OMIM:181600
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Pustule, Hyperkeratosis, Epidermal acanthosis, Skin rash OMIM:612852
Naxos Disease
Diffuse palmoplantar hyperkeratosis, Palmoplantar keratoderma, Subungual hyperkeratosis, Acanthol... OMIM:601214
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Pathologic fracture, Osteomyelitis leading to amputation due to slow healing fractures, Osteopeni... OMIM:112250
Pycnodysostosis
Generalized osteosclerosis, Coronal craniosynostosis, Increased bone mineral density, Overweight,... ORPHA:763
Meige Disease
Recurrent bacterial skin infections, Skin ulcer, Recurrent skin infections, Cobblestone-like hype... ORPHA:90186
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Palmoplantar hyperkeratosis, Hyperkeratotic papule, Palmoplantar keratoderma ORPHA:2698
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Acne inversa, Eczema, Orthokeratosis, Subungual hyperkeratosis OMIM:617337
Neonatal Lupus Erythematosus
Malar rash, Maculopapular exanthema, Skin rash, Parakeratosis, Hyperkeratosis ORPHA:398124
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Skin ulcer ORPHA:1806
Immunodeficiency, Common Variable, 8, With Autoimmunity
Psoriasiform lesion, Erythema nodosum OMIM:614700
Osteopathia Striata-Cranial Sclerosis Syndrome
Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Increased bone mineral ... ORPHA:2780
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Psoriasis-Related Juvenile Idiopathic Arthritis
Malar rash, Skin rash, Pruritus, Psoriasiform dermatitis, Psoriasiform lesion ORPHA:85436
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Epidermal acanthosis OMIM:616069
Chromomycosis
Pruritus, Hyperparakeratosis, Hyperkeratotic papule, Hyperkeratosis ORPHA:182
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Ichthyosis, Palmoplantar keratoderma OMIM:609528
Atypical Werner Syndrome
Lack of skin elasticity, Hyperkeratosis, Skin ulcer ORPHA:79474
Gaucher Disease Type 1
Increased bone mineral density, Osteolysis, Pathologic fracture, Osteoarthritis, Osteopenia ORPHA:77259
Amyloidosis, Finnish Type
Cutis laxa OMIM:105120
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis ORPHA:79279
Congenital Disorder Of Glycosylation, Type Iil
Dry skin, Hyperkeratosis OMIM:614576
Myoectodermal Gonadal Dysgenesis Syndrome
Dry skin, Scaling skin OMIM:618419
Radio-Tartaglia Syndrome
Dry skin, Striae distensae OMIM:619312
Netherton Syndrome
Congenital nonbullous ichthyosiform erythroderma, Parakeratosis, Recurrent skin infections, Eczem... OMIM:256500
Linear Verrucous Nevus Syndrome
Hyperkeratosis ORPHA:2611
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Hypohidrotic Ectodermal Dysplasia
Eczema, Dry skin, Hyperkeratosis ORPHA:238468
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis ORPHA:1883
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis OMIM:615279
Trichothiodystrophy 1, Photosensitive
Dry skin, Hyperkeratosis, Erythroderma, Congenital nonbullous ichthyosiform erythroderma OMIM:601675
Dysosteosclerosis
Sclerosis of hand bone, Osteopenia, Clavicular sclerosis, Sclerotic scapulae, Increased susceptib... OMIM:224300
Spinocerebellar Ataxia 34
Erythroderma, Epidermal hyperkeratosis OMIM:133190
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Cutis laxa OMIM:614100
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Restrictive Dermopathy
Generalized hyperkeratosis, Scaling skin, Dermal translucency, Epidermal hyperkeratosis ORPHA:1662
Milroy Disease
Erysipelas, Hyperkeratosis ORPHA:79452
Monilethrix
Follicular hyperkeratosis ORPHA:573
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Rickets of the lower limbs, Increased bone mineral density, Enthesitis, Hypopho... ORPHA:289176
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Juvenile Idiopathic Arthritis
Generalized hyperkeratosis, Psoriasiform dermatitis, Thickened skin, Skin rash ORPHA:92
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis OMIM:609638
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis ORPHA:1839
Congenital Disorder Of Glycosylation, Type Iir
Cutis laxa OMIM:301045
Desmosterolosis
Increased bone mineral density, Osteopetrosis, Failure to thrive ORPHA:35107
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Pituitary Adenoma 4, Acth-Secreting
Purpura, Facial erythema, Ecchymosis, Striae distensae OMIM:219090
Pachyonychia Congenita 3
Follicular hyperkeratosis, Plantar hyperkeratosis, Palmoplantar keratoderma, Chapped lip, Palmar ... OMIM:615726
Parkes Weber Syndrome
Scaling skin, Skin ulcer ORPHA:90307
Cardiofaciocutaneous Syndrome
Ichthyosis, Redundant skin, Dry skin, Hyperextensible skin, Palmoplantar keratoderma, Excessive w... ORPHA:1340
Monilethrix
Perifollicular hyperkeratosis OMIM:158000
Lymphatic Malformation 12
Hyperkeratosis OMIM:620014
Trichothiodystrophy 8, Nonphotosensitive
Eczema, Cutis laxa OMIM:619691
Gaucher Disease, Perinatal Lethal
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Purpura, Petechiae, Hyperkeratosis OMIM:608013
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, Skin rash OMIM:604173
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification OMIM:618476
Restrictive Dermopathy 1
Scaling skin, Epidermal hyperkeratosis OMIM:275210
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone density with cystic changes, Increased bone mineral density ORPHA:94089
Poems Syndrome
Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Weight loss ORPHA:2905
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Osteopetrosis, Decreased osteoclast count OMIM:259720
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Orthokeratosis, Parakeratosis, Congenital ichthyosiform erythroderma, Hyperkeratosis, E... OMIM:308050
Hidrotic Ectodermal Dysplasia, Halal Type
Follicular hyperkeratosis ORPHA:1809
Pachyonychia Congenita
Follicular hyperkeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Palmoplanta... ORPHA:2309
12Q14 Microdeletion Syndrome
Osteopoikilosis, Failure to thrive ORPHA:94063
Arthrogryposis And Ectodermal Dysplasia
Dry skin, Hyperkeratosis OMIM:601701
Acth-Independent Macronodular Adrenal Hyperplasia
Striae distensae OMIM:219080
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Sialidosis Type 1
Hyperkeratosis ORPHA:812
Pigmented Nodular Adrenocortical Disease, Primary, 2
Striae distensae OMIM:610475
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Camptodactyly of finger, Synostosis of carpal bones, Failure to t... ORPHA:90652
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Dermal translucency, Epidermal hyperkeratosis OMIM:137940
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology ORPHA:398189
Loeys-Dietz Syndrome 4
Hyperextensible skin, Striae distensae OMIM:614816
Tyrosinemia Type 2
Hyperkeratosis, Palmoplantar keratoderma ORPHA:28378
Hutchinson-Gilford Progeria Syndrome
Lack of skin elasticity, Premature skin wrinkling ORPHA:740
Fibromuscular Dysplasia, Multifocal
Dermal translucency, Striae distensae, Hyperextensible skin, Soft skin, Soft, doughy skin OMIM:619329
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ichthyosis, Erythema, Facial erythema, Atopic dermatitis, Scaling skin, Dry skin, Cutis laxa OMIM:619503
Schwartz-Jampel Syndrome
Increased bone mineral density, Arthrogryposis multiplex congenita, Joint stiffness, Flexion cont... ORPHA:800
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Elbow ankylosis, Abnormal cortical bone morphology, Facial hypero... ORPHA:2658
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Small for gestational age, Thickened cortex of long bones OMIM:127000
Donohue Syndrome
Hyperkeratosis, Acanthosis nigricans OMIM:246200
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis ORPHA:163966
Pseudohypoparathyroidism Type 1A
Hyperostosis frontalis interna, Increased bone mineral density, Reduced bone mineral density, Ect... ORPHA:79443
X-Linked Hypophosphatemia
Rickets, Generalized osteosclerosis, Reduced bone mineral density, Craniosynostosis, Enthesitis, ... ORPHA:89936
Incontinentia Pigmenti
Erythema, Hyperkeratosis, Maculopapular exanthema, Pallor OMIM:308300
Bone Marrow Failure Syndrome 3
Chromosome breakage, Eczema, Hyperkeratosis OMIM:617052
Osteopetrosis, Autosomal Recessive 3
Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis OMIM:259730
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Hyperkeratosis, Ichthyosis OMIM:148210
Trichothiodystrophy
Craniosynostosis, Increased bone mineral density, Multiple joint contractures, Osteopenia ORPHA:33364
Erdheim-Chester Disease
Increased bone mineral density, Osteolysis, Osteomyelitis, Weight loss ORPHA:35687
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Ectopic ossification, Obesity ORPHA:79444
Toxic Epidermal Necrolysis
Erythema, Skin ulcer, Acantholysis ORPHA:537
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin ORPHA:79431
Noonan Syndrome 10
Hyperextensible skin, Hyperkeratosis, Palmoplantar cutis laxa OMIM:616564
Kanzaki Disease
Dry skin, Hyperkeratosis, Petechiae OMIM:609242
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Acne, Striae distensae ORPHA:189427
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Ichthyosis, Hyperkeratosis ORPHA:1005
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Cutis laxa OMIM:610842
Pigmented Nodular Adrenocortical Disease, Primary, 1
Striae distensae OMIM:610489
Raine Syndrome
Increased bone mineral density, Subperiosteal bone formation, Arthrogryposis multiplex congenita OMIM:259775
Lethal Acantholytic Erosive Disorder
Acantholysis ORPHA:158687
Desmosterolosis
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand, Fa... OMIM:602398
Obsolete: Primary Pigmented Nodular Adrenocortical Disease
Acne, Striae distensae ORPHA:189439
Autosomal Dominant Cerebellar Ataxia
Erythema, Hyperkeratosis ORPHA:99
Noonan Syndrome 2
Hyperextensible skin, Hyperkeratosis, Palmoplantar cutis laxa OMIM:605275
Mycetoma
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis ORPHA:2583
Incontinentia Pigmenti
Erythema, Hyperkeratosis, Skin ulcer, Skin rash ORPHA:464
Gaucher Disease
Increased bone mineral density, Osteolysis, Joint stiffness, Osteoarthritis, Osteopenia, Recurren... ORPHA:355
Macs Syndrome
Ichthyosis, Redundant skin, Hyperextensible skin, Cutis laxa, Soft skin OMIM:613075
Cardiac Valvular Dysplasia, X-Linked
Cutis laxa OMIM:314400
Stevens-Johnson Syndrome
Erythema, Acantholysis ORPHA:36426
Adrenocortical Carcinoma
Striae distensae ORPHA:1501
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Follicular hyperkeratosis, Hyperextensible skin, Cutis laxa, Soft skin OMIM:614557
Woodhouse-Sakati Syndrome
Scaling skin ORPHA:3464
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Osteopetrosis ORPHA:3240
Gaucher Disease Type 3
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:77261
Chime Syndrome
Erythema, Hyperkeratosis, Skin ulcer, Ichthyosis ORPHA:3474
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Ichthyosis, Eczema, Hyperkeratosis, Hyperextensible skin OMIM:607721
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hyperkeratosis OMIM:301220
Xeroderma Pigmentosum
Erythema, Dry skin, Hyperkeratosis, Thickened skin ORPHA:910
Bethlem Myopathy
Hyperkeratosis ORPHA:610
Ullrich Congenital Muscular Dystrophy 1
Follicular hyperkeratosis OMIM:254090
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Sclerodactyly, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis OMIM:610644
Loeys-Dietz Syndrome 6
Striae distensae OMIM:619656
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Palmoplantar cutis laxa, Follicular hyperkeratosis, Hyperextensible skin, Soft skin, Excessive wr... OMIM:225400
Cardiofaciocutaneous Syndrome 1
Ichthyosis, Hyperkeratosis, Atopic dermatitis OMIM:115150
Kindler Epidermolysis Bullosa