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

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 0.0%
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%
oesophagus
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.

Histopathology

Images

10 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
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
phenotypes		 Matching phenotypes Source
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... OMIM:617571
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin OMIM:146590
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis, Scaling skin OMIM:617115
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Atop... ORPHA:530838
Epidermolytic Hyperkeratosis 1
Epidermal acanthosis, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythroderma,... OMIM:113800
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Huriez Syndrome
Dry skin, Lack of skin elasticity, Sclerodactyly, Palmoplantar keratoderma ORPHA:384
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Acrokeratosis OMIM:101900
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:602723
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Erythrokeratodermia Variabilis Et Progressiva 4
Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou... OMIM:617526
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Epidermal acanthosis, Erythroderma, Hyperkeratosis, Palmoplantar keratoderma, Scal... OMIM:612281
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... OMIM:620148
Peeling Skin Syndrome 4
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthoke... OMIM:607936
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis ORPHA:464318
Acral Self-Healing Collodion Baby
Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis, Pruritus ORPHA:737
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... OMIM:148730
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus, Erythema, Scaling skin, Scleroderma, Morphea ORPHA:90158
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Ichthyosis, Annular Epidermolytic, 1
Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform eryth... OMIM:607602
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Keratoderma Hereditarium Mutilans With Ichthyosis
Scaling skin on fingertip, Parakeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyp... ORPHA:79395
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Porokeratosis ORPHA:735
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... ORPHA:64745
Peeling Skin Syndrome 3
Pruritus, Erythema, White scaling skin OMIM:616265
Dowling-Degos Disease 4
Pruritus, Epidermal acanthosis, Hypergranulosis OMIM:615696
Bathing Suit Ichthyosis
Parakeratosis, Epidermal acanthosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, P... ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosifor... OMIM:604777
Acral Peeling Skin Syndrome
Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin ORPHA:263534
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk... ORPHA:498359
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Pruritus, Abnorm... ORPHA:79147
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Bazex Syndrome
Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosis nigri... ORPHA:166113
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... ORPHA:454
Ulerythema Ophryogenesis
Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat... ORPHA:3406
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... ORPHA:87503
Lamellar Ichthyosis
Pruritus, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Erythroderma, Dry skin ORPHA:313
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
Epidermal acanthosis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosi... OMIM:616295
Atrophoderma Vermiculata
Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule ORPHA:79100
Ichthyosis With Confetti
Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital nonbullous ichthyos... OMIM:609165
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Epidermal acanthosis, Crusting erythematous dermatitis, Cutis laxa ORPHA:79148
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Ichthyosis Vulgaris
Eczematoid dermatitis, Absent keratohyalin granules, Dry skin, Ichthyosis OMIM:146700
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Failure to thrive, Clavicular sclerosis OMIM:615198
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity, Tall stature OMIM:618406
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Hypotrichosis Simplex Of The Scalp
Parakeratosis, Epidermal acanthosis, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling skin ORPHA:90368
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Lack of skin elasticity ORPHA:1366
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Amyloidosis, Primary Localized Cutaneous, 1
Pruritus, Dry skin, Scaling skin OMIM:105250
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Epidermal acanthosis, Cutis laxa, Generalized ichthyosis, Scaling skin, Dry skin, Generalized hyp... ORPHA:2269
Ichthyosis, Congenital, Autosomal Recessive 8
Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:613943
Palmoplantar Keratoderma And Congenital Alopecia 2
Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly OMIM:212360
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythematous dermati... ORPHA:79481
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla... ORPHA:312
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis ORPHA:79503
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo... OMIM:614457
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Peeling Skin Syndrome 2
Erythema, Scaling skin 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
Epidermal acanthosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generali... OMIM:133200
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Tal... ORPHA:3152
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ... ORPHA:90280
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthok... OMIM:617525
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkerato... ORPHA:2199
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Ichthyosis, Congenital, Autosomal Recessive 7
Epidermal acanthosis, Hypergranulosis, Ichthyosis, Palmoplantar keratoderma, Erythroderma OMIM:615022
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Scaling skin ORPHA:90283
Aicardi-Goutieres Syndrome 5
Chilblains, Dry skin, Scaling skin OMIM:612952
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis, Epidermal acanthosis ORPHA:199267
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin, Ichthyosis ORPHA:461
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Classic Mycosis Fungoides
Skin rash, Eczema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin ORPHA:2584
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Cutaneous Mastocytoma
Maculopapular exanthema, Pruritus, Thickened skin, Erythema, Scaling skin ORPHA:79455
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin ORPHA:2812
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Dry skin, Scaling skin, Erythroderma OMIM:609180
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Anonychia With Flexural Pigmentation
Hyperkeratosis, Follicular hyperkeratosis ORPHA:69125
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Eosinophilic derma... ORPHA:293173
Vulvovaginal Gingival Syndrome
Pruritus, Parakeratosis, Erythema, Epidermal acanthosis ORPHA:83453
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hyper... OMIM:300918
Olmsted Syndrome 2
Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratos... OMIM:619208
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Thickened skin, Palmoplantar keratoderma, Lack of skin elasticity ORPHA:1979
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis ORPHA:79399
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Palmoplantar hyperkeratosis OMIM:604536
Peeling Skin Syndrome 1
Pruritus, Scaling skin, Erythroderma OMIM:270300
Lichen Planus Pemphigoides
Skin vesicle, Hyperkeratosis, Pruritus ORPHA:254478
Superficial Epidermolytic Ichthyosis
Ichthyosis, Erythema, Palmoplantar keratoderma, Acantholysis ORPHA:455
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Hyperkeratosis, Malar rash, Psoriasiform lesion ORPHA:163525
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Hyperkeratosis, Palmoplantar hyperkeratosis ORPHA:89838
Hypotrichosis 6
Pruritus, Erythema, Follicular hyperkeratosis OMIM:607903
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Stiff Skin Syndrome
Thickened skin, Lack of skin elasticity ORPHA:2833
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin, Reduced epidermal extracellular matrix protein 1 protein expression OMIM:247100
Leri Pleonosteosis
Thickened skin, Lack of skin elasticity ORPHA:2900
Cole Disease
Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm... OMIM:615522
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:615023
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis OMIM:148600
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis OMIM:615821
Acute Radiation Syndrome
Hyperkeratosis, Inflammatory abnormality of the skin, Scaling skin, Skin ulcer ORPHA:454831
Ehlers-Danlos Syndrome, Hypermobility Type
Soft skin, Hyperextensible skin, Striae distensae OMIM:130020
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Classic Phenylketonuria
Eczema, Lack of skin elasticity ORPHA:79254
Darier Disease
Acrokeratosis, Pruritus, Thickened skin, Palmoplantar keratoderma, Skin vesicle, Subungual hyperk... ORPHA:218
Erythrokeratodermia Variabilis
Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Dry skin ORPHA:317
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis... OMIM:148700
Irida Syndrome
Hyperkeratosis, Pallor, Ichthyosis ORPHA:209981
Costello Syndrome
Acanthosis nigricans, Hyperkeratosis, Redundant skin, Lack of skin elasticity ORPHA:3071
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis OMIM:610227
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Erythema, Scaling skin ORPHA:90156
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Erythema migrans, Skin vesicle ORPHA:158681
White Sponge Nevus 2
Hyperparakeratosis, Epidermal acanthosis OMIM:615785
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke... ORPHA:79151
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Dry skin, Scaling skin, Palmoplantar keratoderma OMIM:618373
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... OMIM:601952
Sjögren-Larsson Syndrome
Hyperkeratosis, Erythema, Dry skin, Ichthyosis ORPHA:816
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthy... OMIM:242300
Dermatitis, Atopic
Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Ichthyos... OMIM:603165
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... OMIM:606545
Diffuse Cutaneous Mastocytosis
Pruritus, Thickened skin, Scaling skin, Erythroderma ORPHA:79456
Acrokeratoelastoidosis Of Costa
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratoti... ORPHA:38
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Acantholysis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Palmoplantar keratoderma, P... OMIM:605676
Ichthyosis Prematurity Syndrome
Epidermal acanthosis, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma OMIM:608649
Pseudoxanthoma Elasticum
Acne, Skin rash, Pruritus, Lack of skin elasticity, Excessive wrinkled skin, Hyperextensible skin... ORPHA:758
Lichen Planopilaris
Pruritus, Hyperkeratosis, Skin ulcer ORPHA:525
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Iga Pemphigus
Neutrophilic infiltration of the skin, Acantholysis, Pustule, Pruritus, Skin vesicle, Cutaneous a... ORPHA:555905
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmo... OMIM:602540
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Mpdu1-Cdg
Eczema, Scaling skin, Ichthyosis ORPHA:79323
Antisynthetase Syndrome
Pruritus, Skin rash, Lack of skin elasticity ORPHA:81
Elastoderma
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa ORPHA:228240
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k... ORPHA:2897
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... ORPHA:2200
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Ichthyosis, Congenital, Autosomal Recessive 2
Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythro... OMIM:242100
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Immunodeficiency 58
Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Seborrheic dermatitis, Chroni... OMIM:618131
Cutis Laxa, Autosomal Recessive, Type Iib
Excessive wrinkled skin, Redundant skin, Lack of skin elasticity OMIM:612940
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis OMIM:618546
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... ORPHA:210110
Werner Syndrome
Hyperkeratosis, Lack of skin elasticity, Skin ulcer ORPHA:902
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin OMIM:612379
Osteopetrosis, Autosomal Recessive 9
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Baralle-Macken Syndrome
Acanthosis nigricans, Striae distensae OMIM:619255
Schopf-Schulz-Passarge Syndrome
Hyperkeratosis, Dry skin, Palmoplantar keratoderma OMIM:224750
Intellectual Developmental Disorder, Autosomal Dominant 62
Striae distensae OMIM:618793
Darier-White Disease
Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis OMIM:124200
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lack of skin elasticity OMIM:615381
Dowling-Degos Disease
Pruritus, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Acne inversa ORPHA:79145
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin OMIM:618527
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin OMIM:308800
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis OMIM:615735
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis ORPHA:89843
8Q22.1 Microdeletion Syndrome
Lack of skin elasticity ORPHA:178303
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Hyperextensible skin, Petechiae, Striae distensae OMIM:225310
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Proteus Syndrome
Hyperkeratosis, Epidermal acanthosis OMIM:176920
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... OMIM:614594
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Pustule, Erythema OMIM:614204
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Pruritus, Palmoplantar keratoderma, Scaling skin, Follicu... ORPHA:158668
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
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Erythroderma, ... OMIM:615508
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Hyperextensible skin, Follicular hyperkeratosis 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, Scaling skin, Ichthyosis ORPHA:35173
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Epidermal acanthosis, Follicular hyperkeratosis OMIM:613102
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Acantholysis ORPHA:704
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Facial erythema, Palmoplantar keratoderma, Scaling skin, Dry skin, Sclerodactyly ORPHA:1010
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Abnormal elasticity of skin, Dry skin, Follicular hyperkeratosis ORPHA:486815
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, Erythroderma, Scaling skin, Chronic oral candidiasis OMIM:606367
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Increased bone mineral density, Recurrent fractures OMIM:611490
Keratoderma Hereditarium Mutilans
Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Ichthyosis ORPHA:494
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma OMIM:613576
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Follicular hyperkeratosis OMIM:615147
Basan Syndrome
Palmoplantar keratoderma, Epidermal acanthosis OMIM:129200
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Leopard Syndrome 3
Hyperkeratosis, Dry skin, Epidermal hyperkeratosis OMIM:613707
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca... ORPHA:294023
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Prolidase Deficiency
Pruritus, Erythema, Crusting erythematous dermatitis, Skin ulcer, Hyperkeratosis, Palmoplantar ke... ORPHA:742
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Pathologic fractu... OMIM:259700
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis OMIM:616029
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin ORPHA:1028
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Noonan Syndrome 8
Palmoplantar cutis laxa, Hyperkeratosis, Hyperextensible skin, Eczema OMIM:615355
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer ORPHA:36386
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis OMIM:618625
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Epidermal acanthosis, Pruritus, Ichthyosis, Orthokeratosis, Dry skin OMIM:607626
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... OMIM:614856
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Pruritus, Erythroderma ORPHA:330064
Congenital Disorder Of Glycosylation, Type Im
Hyperkeratosis, Inflammatory abnormality of the skin, Dry skin, Ichthyosis OMIM:610768
Chronic Mucocutaneous Candidiasis
Skin rash, Pruritus, Erythema, Skin ulcer, Hyperkeratosis ORPHA:1334
Neu-Laxova Syndrome
Lack of skin elasticity, Ichthyosis ORPHA:2671
Harlequin Ichthyosis
Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma, Ichthyosis ORPHA:457
Mass Syndrome
Striae distensae OMIM:604308
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Redundant skin, Cutis laxa ORPHA:91135
Recon Progeroid Syndrome
Dry skin, Scaling skin OMIM:620370
Graft Versus Host Disease
Inflammatory abnormality of the skin, Maculopapular exanthema, Scaling skin ORPHA:39812
Maxillonasal Dysplasia
Striae distensae ORPHA:1248
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Decreased body weight OMIM:617306
Rat-Bite Fever
Maculopapular exanthema, Skin rash, Erythema nodosum, Pustule, Scaling skin, Morbilliform rash ORPHA:31205
Diastrophic Dysplasia
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness ORPHA:628
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Synovitis, Increase... ORPHA:77297
Familial Cervical Artery Dissection
Striae distensae ORPHA:36382
Weill-Marchesani Syndrome 2
Thickened skin, Lack of skin elasticity, Striae distensae OMIM:608328
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Cutis laxa OMIM:614434
Pemphigus Erythematosus
Malar rash, Acantholysis ORPHA:79480
Lipoid Proteinosis
Hyperkeratosis, Thickened skin, Pustule, Acne ORPHA:530
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Erythroderma ORPHA:169154
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lack of skin elasticity ORPHA:90153
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... ORPHA:1782
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification ORPHA:163649
Geleophysic Dysplasia 1
Thickened skin, Lack of skin elasticity OMIM:231050
Bacterial Toxic-Shock Syndrome
Recurrent skin infections, Ecchymosis, Skin rash, Scaling skin ORPHA:36234
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Scaling skin, Cutaneous abscess ORPHA:101330
Autoinflammation With Arthritis And Dyskeratosis
Dry skin, Epidermal acanthosis, Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617388
Ichthyosis, Congenital, Autosomal Recessive 11
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:602400
Odontoonychodermal Dysplasia
Plantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Erythema, Palmoplantar hyperkerato... OMIM:257980
Warty Dyskeratoma
Acrokeratosis, Epidermal thickening, Acantholysis ORPHA:69745
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Palmoplantar keratoderma, Epidermal acanthosis, Follicular hyperkeratosis OMIM:615225
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Osteopetrosis OMIM:615085
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... OMIM:259710
Lymphatic Malformation 4
Hyperkeratosis OMIM:615907
Hidrotic Ectodermal Dysplasia
Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... ORPHA:189
Punctate Palmoplantar Keratoderma Type 1
Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis... ORPHA:79501
Riddle Syndrome
Erythema, Chromosomal breakage induced by ionizing radiation, Scaling skin ORPHA:420741
Ramon Syndrome
Hyperkeratosis ORPHA:3019
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis, Failure... OMIM:239000
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Camurati-Engelmann Disease
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... OMIM:131300
Ehlers-Danlos Syndrome, Classic-Like
Soft skin, Hyperextensible skin, Striae distensae OMIM:606408
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:281090
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Striae distensae OMIM:300354
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Thickened skin, Skin ulcer, Scaling skin, Dry skin, Erysipelas ORPHA:2526
Naxos Disease
Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Diffuse palmoplantar hyperkeratosis... OMIM:601214
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Subungual hyperkeratosis, Perianal erythema, Eczema, Recurrent skin infe... OMIM:308205
Scleroderma, Familial Progressive
Scleroderma, Abnormality of chromosome stability, Chromosome breakage, Sclerodactyly OMIM:181750
Autosomal Recessive Cutis Laxa Type 1
Redundant skin, Cutis laxa, Lack of skin elasticity ORPHA:90349
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Pustule, Hyperkeratosis, Epidermal acanthosis, Skin rash OMIM:612852
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Meige Disease
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Recurrent skin infections, ... ORPHA:90186
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Pycnodysostosis
Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Increased s... ORPHA:763
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis OMIM:181600
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa OMIM:617337
Neonatal Lupus Erythematosus
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash ORPHA:398124
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Skin ulcer ORPHA:1806
Immunodeficiency, Common Variable, 8, With Autoimmunity
Erythema nodosum, Psoriasiform lesion OMIM:614700
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... ORPHA:2780
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Chromomycosis
Hyperkeratosis, Hyperparakeratosis, Hyperkeratotic papule, Pruritus ORPHA:182
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Palmoplantar keratoderma, Ichthyosis OMIM:609528
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Malar rash ORPHA:85436
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Epidermal acanthosis OMIM:616069
Amyloidosis, Finnish Type
Cutis laxa OMIM:105120
Atypical Werner Syndrome
Hyperkeratosis, Lack of skin elasticity, Skin ulcer ORPHA:79474
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture ORPHA:77259
Congenital Disorder Of Glycosylation, Type Iil
Hyperkeratosis, Dry skin OMIM:614576
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis ORPHA:79279
Netherton Syndrome
Parakeratosis, Recurrent skin infections, Eczema, Congenital nonbullous ichthyosiform erythroderm... OMIM:256500
Myoectodermal Gonadal Dysgenesis Syndrome
Dry skin, Scaling skin OMIM:618419
Radio-Tartaglia Syndrome
Dry skin, Striae distensae OMIM:619312
Linear Verrucous Nevus Syndrome
Hyperkeratosis ORPHA:2611
Hypohidrotic Ectodermal Dysplasia
Hyperkeratosis, Dry skin, Eczema ORPHA:238468
Trichothiodystrophy 1, Photosensitive
Hyperkeratosis, Dry skin, Congenital nonbullous ichthyosiform erythroderma, Erythroderma OMIM:601675
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis OMIM:615279
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis ORPHA:1883
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... 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
Milroy Disease
Hyperkeratosis, Erysipelas ORPHA:79452
Restrictive Dermopathy
Epidermal hyperkeratosis, Generalized hyperkeratosis, Scaling skin, Dermal translucency ORPHA:1662
Monilethrix
Follicular hyperkeratosis ORPHA:573
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis OMIM:609638
Pituitary Adenoma 4, Acth-Secreting
Ecchymosis, Purpura, Striae distensae, Facial erythema OMIM:219090
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Congenital Disorder Of Glycosylation, Type Iir
Cutis laxa OMIM:301045
Desmosterolosis
Increased bone mineral density, Failure to thrive, Osteopetrosis ORPHA:35107
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis ORPHA:1839
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Pachyonychia Congenita 3
Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ... OMIM:615726
Cardiofaciocutaneous Syndrome
Redundant skin, Excessive wrinkled skin, Hyperkeratosis, Hyperextensible skin, Palmoplantar kerat... ORPHA:1340
Monilethrix
Perifollicular hyperkeratosis OMIM:158000
Lymphatic Malformation 12
Hyperkeratosis OMIM:620014
Parkes Weber Syndrome
Scaling skin, Skin ulcer ORPHA:90307
Trichothiodystrophy 8, Nonphotosensitive
Eczema, Cutis laxa OMIM:619691
Gaucher Disease, Perinatal Lethal
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Petechiae, Purpura OMIM:608013
Poikiloderma With Neutropenia
Hyperkeratosis, Plantar hyperkeratosis, Palmoplantar keratoderma, Skin rash OMIM:604173
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis ORPHA:94089
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:618476
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis OMIM:259720
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Epidermal acanthosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythrode... OMIM:308050
Restrictive Dermopathy 1
Scaling skin, Epidermal hyperkeratosis OMIM:275210
Acth-Independent Macronodular Adrenal Hyperplasia
Striae distensae OMIM:219080
Poems Syndrome
Sclerosis of hand bone, Sclerosis of skull base, Sclerosis of foot bone, Weight loss ORPHA:2905
Hidrotic Ectodermal Dysplasia, Halal Type
Follicular hyperkeratosis ORPHA:1809
Pachyonychia Congenita
Palmoplantar keratoderma, Linear arrays of macular hyperkeratoses in flexural areas, Follicular h... ORPHA:2309
Pigmented Nodular Adrenocortical Disease, Primary, 2
Striae distensae OMIM:610475
Arthrogryposis And Ectodermal Dysplasia
Hyperkeratosis, Dry skin OMIM:601701
Sialidosis Type 1
Hyperkeratosis ORPHA:812
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
12Q14 Microdeletion Syndrome
Osteopoikilosis, Failure to thrive ORPHA:94063
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Failure to thrive, Camptodactyly of finger, Tarsal synostosis, Ca... ORPHA:90652
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Epidermal hyperkeratosis, Dermal translucency OMIM:137940
Tyrosinemia Type 2
Hyperkeratosis, Palmoplantar keratoderma ORPHA:28378
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Loeys-Dietz Syndrome 4
Hyperextensible skin, Striae distensae OMIM:614816
Hutchinson-Gilford Progeria Syndrome
Premature skin wrinkling, Lack of skin elasticity ORPHA:740
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... ORPHA:800
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Erythema, Atopic dermatitis, Cutis laxa, Facial erythema, Scaling skin, Ichthyosis, Dry skin OMIM:619503
Fibromuscular Dysplasia, Multifocal
Soft skin, Hyperextensible skin, Soft, doughy skin, Striae distensae, Dermal translucency OMIM:619329
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology ORPHA:398189
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis ORPHA:163966
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... ORPHA:2658
Donohue Syndrome
Acanthosis nigricans, Hyperkeratosis OMIM:246200
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Small for gestational age, Thickened cortex of long bones OMIM:127000
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Obesity, Reduced bone mineral density, Hyperostosis frontalis int... ORPHA:79443
Incontinentia Pigmenti
Hyperkeratosis, Erythema, Maculopapular exanthema, Pallor OMIM:308300
Bone Marrow Failure Syndrome 3
Hyperkeratosis, Chromosome breakage, Eczema OMIM:617052
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Hyperkeratosis, Recurrent bacterial skin infections, Ichthyosis OMIM:148210
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis OMIM:259730
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Increased bone mineral density, Obesity ORPHA:79444
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis ORPHA:33364
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss ORPHA:35687
Toxic Epidermal Necrolysis
Erythema, Skin ulcer, Acantholysis ORPHA:537
Kanzaki Disease
Hyperkeratosis, Dry skin, Petechiae OMIM:609242
Noonan Syndrome 10
Palmoplantar cutis laxa, Hyperkeratosis, Hyperextensible skin OMIM:616564
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... ORPHA:89936
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hyperkeratosis, Ichthyosis ORPHA:1005
Pigmented Nodular Adrenocortical Disease, Primary, 1
Striae distensae OMIM:610489
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin ORPHA:79431
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Cutis laxa OMIM:610842
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Acne, Striae distensae ORPHA:189427
Lethal Acantholytic Erosive Disorder
Acantholysis ORPHA:158687
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation OMIM:259775
Desmosterolosis
Generalized osteosclerosis, Failure to thrive, Joint contracture of the hand, Arthrogryposis mult... OMIM:602398
Incontinentia Pigmenti
Hyperkeratosis, Erythema, Skin rash, Skin ulcer ORPHA:464
Noonan Syndrome 2
Palmoplantar cutis laxa, Hyperkeratosis, Hyperextensible skin OMIM:605275
Mycetoma
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis ORPHA:2583
Cardiac Valvular Dysplasia, X-Linked
Cutis laxa OMIM:314400
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... ORPHA:355
Stevens-Johnson Syndrome
Erythema, Acantholysis ORPHA:36426
Adrenocortical Carcinoma
Striae distensae ORPHA:1501
Macs Syndrome
Redundant skin, Cutis laxa, Hyperextensible skin, Ichthyosis, Soft skin OMIM:613075
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Soft skin, Hyperextensible skin, Follicular hyperkeratosis, Cutis laxa 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
Hyperkeratosis, Erythema, Skin ulcer, Ichthyosis ORPHA:3474
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hyperkeratosis, Hyperextensible skin, Eczema, Ichthyosis OMIM:607721
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hyperkeratosis OMIM:301220
Bethlem Myopathy
Hyperkeratosis ORPHA:610
Ullrich Congenital Muscular Dystrophy 1
Follicular hyperkeratosis OMIM:254090
Xeroderma Pigmentosum
Hyperkeratosis, Thickened skin, Erythema, Dry skin ORPHA:910
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly OMIM:610644
Loeys-Dietz Syndrome 6
Striae distensae OMIM:619656
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Excessive wrinkled skin, Hyperextensible skin, Follicular hyperkeratosis, Palmoplantar cutis laxa... OMIM:225400
Cednik Syndrome
Diffuse palmoplantar hyperkeratosis, Ichthyosis ORPHA:66631
Kindler Epidermolysis Bullosa
Hyperkeratosis, Erythema, Recurrent skin infections, Palmoplantar keratoderma ORPHA:2908
Cardiofaciocutaneous Syndrome 1
Hyperkeratosis, Atopic dermatitis, Ichthyosis OMIM:115150
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Cutis Laxa, Autosomal Dominant 3
Premature skin wrinkling, Cutis laxa, Dermal translucency OMIM:616603
Premature Aging Syndrome, Penttinen Type
Hyperkeratosis, Thickened skin, Palmoplantar hyperkeratosis OMIM:601812
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Sclerosteosis 1
Overgrowth, Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, ... OMIM:269500
Cushing Disease
Acne, Recurrent cutaneous fungal infections, Skin ulcer, Ecchymosis, Striae distensae, Purpura ORPHA:96253
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
De Sanctis-Cacchione Syndrome
Parakeratosis, Defective DNA repair after ultraviolet radiation damage OMIM:278800
Aortic Aneurysm, Familial Thoracic 10
Striae distensae OMIM:617168
Immunodeficiency 49
Psoriasiform dermatitis, Cutis laxa OMIM:617237
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Soft skin, Hyperextensible skin, Cutis laxa, Dermal translucency OMIM:615349
Pseudoxanthoma Elasticum
Civatte bodies, Cutis laxa OMIM:264800
Primary Hyperoxaluria
Generalized osteosclerosis, Failure to thrive, Recurrent fractures ORPHA:416
Eec Syndrome
Hyperkeratosis, Dry skin ORPHA:1896
Fucosidosis
Generalized hyperkeratosis ORPHA:349
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Hyperkeratosis OMIM:620189
Agel Amyloidosis
Pruritus, Dry skin, Cutis laxa ORPHA:85448
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hyperkeratosis OMIM:615510
Mucoepithelial Dysplasia, Hereditary
Chronic mucocutaneous candidiasis, Follicular hyperkeratosis OMIM:158310
Reactive Arthritis
Pustule, Hyperkeratosis ORPHA:29207
Leprosy
Hyperkeratosis, Penetrating foot ulcers, Acral ulceration ORPHA:548
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Hermansky-Pudlak Syndrome
Hyperkeratosis, Thickened skin ORPHA:79430
Nelson Syndrome
Striae distensae ORPHA:199244
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, Ecz... ORPHA:83617
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Failure to thrive in infancy, Joint sti... ORPHA:904
Leprechaunism
Acanthosis nigricans, Thickened skin, Hyperkeratosis, Hyperextensible skin ORPHA:508
Cutis Laxa, Autosomal Recessive, Type Ia
Redundant skin, Cutis laxa OMIM:219100
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Skin rash, Skin ulcer, Acantholysis ORPHA:95455
Chondrodysplasia Punctata, Autosomal Dominant
Hyperkeratosis with erythema OMIM:118650
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Recurrent fractures, Craniosynostosis, Reduced bone mineral density ORPHA:667
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hyperkeratosis ORPHA:79280
Classical Ehlers-Danlos Syndrome
Soft, doughy skin, Ecchymosis, Hyperextensible skin, Striae distensae ORPHA:287
Koolen-De Vries Syndrome Due To A Point Mutation
Hyperkeratosis, Eczema, Ichthyosis ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hyperkeratosis, Eczema, Ichthyosis ORPHA:363958
Meester-Loeys Syndrome
Striae distensae OMIM:300989
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hyperkeratosis, Erythema, Eczema, Ichthyosis ORPHA:2273
Cutis Laxa, Autosomal Dominant 1
Hyperextensible skin, Redundant skin, Cutis laxa OMIM:123700
Marfan Syndrome
Striae distensae ORPHA:558
Marfan Syndrome
Striae distensae OMIM:154700
Loeys-Dietz Syndrome 2
Soft skin, Striae distensae, Dermal translucency OMIM:610168
Kyphoscoliotic Ehlers-Danlos Syndrome
Soft, doughy skin, Hyperextensible skin, Follicular hyperkeratosis ORPHA:536545
Warburg-Cinotti Syndrome
Erythema, Follicular hyperkeratosis OMIM:618175
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hyperparakeratosis, Seborrheic dermatitis ORPHA:276280
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Failure to thrive, Recurrent fractures ORPHA:2785
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Failure to thrive, Increased density of long bones, Thickened cortex of ... OMIM:269150
Cushing Syndrome Due To Ectopic Acth Secretion
Acne, Recurrent cutaneous fungal infections, Skin ulcer, Ecchymosis, Striae distensae, Purpura ORPHA:99889
Lymphatic Filariasis
Hyperkeratosis ORPHA:2035
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperkeratosis, Dry skin OMIM:210710
Fabry Disease
Hyperkeratosis ORPHA:324
Ramon Syndrome
Hyperkeratosis OMIM:266270
Autosomal Dominant Cutis Laxa
Redundant neck skin, Redundant skin, Cutis laxa, Increased number of skin folds, Hyperextensible ... ORPHA:90348
Loeys-Dietz Syndrome
Striae distensae ORPHA:60030
6Q Terminal Deletion Syndrome
Hyperkeratosis ORPHA:75857
Loeys-Dietz Syndrome 3
Soft skin, Striae distensae, Dermal translucency OMIM:613795
Aneurysm-Osteoarthritis Syndrome
Striae distensae ORPHA:284984
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hyperkeratosis OMIM:604292
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hyperkeratosis OMIM:129900
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Orthokeratotic hyperkeratosis, Epidermal thickening, Thickened skin ORPHA:73223
Cowden Syndrome
Palmoplantar keratoderma, Generalized hyperkeratosis ORPHA:201
Carney Complex
Striae distensae ORPHA:1359
Proteus Syndrome
Thickened skin, Generalized hyperkeratosis ORPHA:744

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Bone marrow - hyperplasia Snap29tm1a(EUCOMM)Wtsi HET Early adult
Spleen - MPATH diagnostic term extramedullary hemopoiesis Snap29tm1a(EUCOMM)Wtsi HET Early adult
Spleen - hyperplasia Snap29tm1a(EUCOMM)Wtsi HET Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Snap29.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Snap29tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Snap29tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Snap29tm1a(EUCOMM)Wtsi PMC6459510
Establishment of Two Mouse Models for CEDNIK Syndrome Reveals the Pivotal Role of SNAP29 in Epidermal Differentiation. The Journal of investigative dermatology (December 2015) Snap29tm1c(EUCOMM)Wtsi Snap29tm1a(EUCOMM)Wtsi Snap29tm1b(EUCOMM)Wtsi 26747696
Identification of roles for the SNARE-associated protein, SNAP29, in mouse platelets. Platelets (November 2015) Snap29tm1c(EUCOMM)Wtsi Snap29tm1a(EUCOMM)Wtsi 26587753

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Snap29tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Snap29tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Snap29tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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