Gene Summary

Name:
ATP-binding cassette, sub-family A member 12
Synonyms:
4833417A11Rik,  4832428G11Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
edema Abca12em1(IMPC)J HOM E18.5 0.00
abnormal facial morphology Abca12em1(IMPC)J HOM E18.5 0.00
abnormal skin appearance Abca12em1(IMPC)J HOM E18.5 0.00
abnormal outer ear morphology Abca12em1(IMPC)J HOM E18.5 0.00
preweaning lethality, complete penetrance Abca12em1(IMPC)J HOM   Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

MicroCT E18.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

Electrocardiogram (ECG)

Waveform Image

15 Images

Gross Morphology Placenta E18.5

Images

3 Images

Gross Morphology Embryo E18.5

Images

4 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Abca12 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 Abca12 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Abca12 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... OMIM:148730
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Ulerythema Ophryogenesis
Acne, Miscarriage, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, C... ORPHA:3406
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... ORPHA:64745
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Porokeratosis ORPHA:735
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Porokeratosis Plantaris Palmaris Et Disseminata
Pruritus, Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis ORPHA:737
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... ORPHA:454
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome
Palmoplantar keratoderma, Ichthyosis ORPHA:281201
Palmoplantar Keratoderma, Punctate Type Ii
Porokeratosis, Spinous keratoses of palms and soles OMIM:175860
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... OMIM:601952
Aquagenic Palmoplantar Keratoderma
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... ORPHA:498359
White Sponge Nevus 2
Hyperparakeratosis, Edema OMIM:615785
Bazex Syndrome
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosi... ORPHA:166113
Huriez Syndrome
Dry skin, Lack of skin elasticity, Sclerodactyly, Palmoplantar keratoderma ORPHA:384
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis OMIM:101900
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Lamellar Ichthyosis
Pruritus, Lack of skin elasticity, Dehydration, Erythroderma, Hyperkeratosis, Ichthyosis, Dry skin ORPHA:313
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Erythroderma, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ... OMIM:612281
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... OMIM:617571
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin OMIM:602723
Palmoplantar Keratoderma And Congenital Alopecia 2
Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly OMIM:212360
Keratoderma Hereditarium Mutilans With Ichthyosis
Scaling skin on fingertip, Parakeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Honeycomb... ORPHA:79395
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Vulvovaginal Gingival Syndrome
Pruritus, Parakeratosis, Erythema ORPHA:83453
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
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
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... OMIM:604777
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Erythema migrans, Skin vesicle ORPHA:158681
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Atop... ORPHA:530838
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 OMIM:615028
Classic Mycosis Fungoides
Skin rash, Eczema, Edema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin ORPHA:2584
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis OMIM:615821
Bathing Suit Ichthyosis
Parakeratosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Palmoplantar scaling sk... ORPHA:100976
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis ORPHA:79503
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta... OMIM:300918
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... OMIM:617526
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Acral Self-Healing Collodion Baby
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... ORPHA:281127
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin, Ichthyosis ORPHA:461
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Ichthyosis Vulgaris
Eczematoid dermatitis, Dry skin, Ichthyosis OMIM:146700
Hypotrichosis Simplex Of The Scalp
Parakeratosis, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling skin ORPHA:90368
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... OMIM:619208
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin, Fragile skin OMIM:146590
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... OMIM:614594
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Lack of skin elasticity ORPHA:1366
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla... ORPHA:312
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ... OMIM:242300
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule ORPHA:464318
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin OMIM:618527
Erythrokeratodermia Variabilis
Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Dry skin ORPHA:317
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin, Ichthyosis ORPHA:2271
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Oral ulcer, Facial erythema, Vasculi... OMIM:620321
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... ORPHA:87503
Superficial Epidermolytic Ichthyosis
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Ichthyosis ORPHA:455
Dermatitis, Atopic
Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Ichthyos... OMIM:603165
Peeling Skin Syndrome 5
Hyperkeratosis, Scaling skin OMIM:617115
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Atrophoderma Vermiculata
Hyperkeratotic papule, Erythema, Follicular hyperkeratosis, Pruritus ORPHA:79100
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ... ORPHA:90280
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa ORPHA:79148
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin ORPHA:2812
Psoriasis 14, Pustular
Pustule, Parakeratosis, Erythema, Psoriasiform dermatitis OMIM:614204
Cutaneous Mastocytoma
Maculopapular exanthema, Telangiectasia of the skin, Pruritus, Dyspnea, Angioedema, Erythema, Thi... ORPHA:79455
Anonychia With Flexural Pigmentation
Hyperkeratosis, Follicular hyperkeratosis ORPHA:69125
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Death in childhood, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform e... OMIM:614457
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79151
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Sjögren-Larsson Syndrome
Hyperkeratosis, Erythema, Dry skin, Ichthyosis ORPHA:816
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma OMIM:133200
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin, Folli... OMIM:616295
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc... ORPHA:90158
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Abnormal oral mu... ORPHA:79147
Lipedema
Edema OMIM:614103
Amyloidosis, Primary Localized Cutaneous, 3
Pruritus, Dry skin OMIM:617920
Netherton Syndrome
Hypernatremic dehydration, Parakeratosis, Recurrent skin infections, Eczema, Angioedema, Congenit... OMIM:256500
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Epidermal hyperkeratosis, Dermal transluc... OMIM:137940
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Pruritus, Ichthyosis, Orthokeratosis, Dry skin OMIM:607626
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis ORPHA:79399
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin OMIM:308800
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Hyperkeratosis, Palmoplantar hyperkeratosis ORPHA:89838
Schopf-Schulz-Passarge Syndrome
Hyperkeratosis, Dry skin, Palmoplantar keratoderma OMIM:224750
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... OMIM:620148
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:613943
Hypotrichosis 6
Pruritus, Erythema, Follicular hyperkeratosis OMIM:607903
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Pruritus, Dry skin, Eczema, Palmoplantar keratoderma OMIM:618535
Lichen Planus Pemphigoides
Skin vesicle, Hyperkeratosis, Pruritus ORPHA:254478
Acral Peeling Skin Syndrome
Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin ORPHA:263534
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Dry skin, Death in infancy, Ichthyosis ORPHA:1954
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Cutis laxa, Generalized ichthyosis, Scaling skin, Dry skin, Generalized hyperkeratosis ORPHA:2269
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis OMIM:618546
Progressive Symmetric Erythrokeratodermia
Erythema, Palmoplantar keratoderma ORPHA:316
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin OMIM:612379
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Asbestos Intoxication
Edema, Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular in... ORPHA:2302
Congenital Disorder Of Glycosylation, Type If
Death in infancy, Hyperkeratosis, Scaling skin, Erythroderma, Dry skin OMIM:609180
Peeling Skin Syndrome 4
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis OMIM:607936
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Asthma, Dehydration, Urticaria, Ichthyosis, ... ORPHA:634
Antisynthetase Syndrome
Recurrent respiratory infections, Skin rash, Telangiectasia of the skin, Edema, Pruritus, Xerosto... ORPHA:81
Harlequin Ichthyosis
Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis, Erythroderma ORPHA:457
Epidermolytic Hyperkeratosis 1
Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital bullous... OMIM:113800
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Abnormal elasticity of skin, Dry skin, Follicular hyperkeratosis ORPHA:486815
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Swollen lip, Facial edema,... ORPHA:100057
Peeling Skin Syndrome 3
Pruritus, Erythema, White scaling skin OMIM:616265
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Epidermolytic Palmoplantar Keratoderma
Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype... ORPHA:2199
Sézary Syndrome
Edema, Pruritus, Palmoplantar keratoderma, Erythroderma, Dry skin ORPHA:3162
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... ORPHA:2200
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
Lymphatic Malformation 4
Hyperkeratosis, Pedal edema, Lymphedema OMIM:615907
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Crackles, Nonproductive cough, Tachypnea, Decreased DLCO, Peri... ORPHA:79126
Costello Syndrome
Redundant skin, Polyhydramnios, Lack of skin elasticity, Hyperkeratosis, Acanthosis nigricans ORPHA:3071
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Palmoplantar keratoderma OMIM:617524
Pemphigus Foliaceus
Psoriasiform dermatitis, Abnormal oral mucosa morphology, Acantholysis, Pruritus, Pustule, Erythe... ORPHA:79481
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Chromomycosis
Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato... ORPHA:182
Sydenham Chorea
Movement abnormality of the tongue, Erythema, Recurrent streptococcus pneumoniae infections ORPHA:306731
Darier Disease
Acrokeratosis, Pruritus, Thickened skin, Palmoplantar keratoderma, Skin vesicle, Subungual hyperk... ORPHA:218
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Thickened skin, Palmoplantar keratoderma, Lack of skin elasticity ORPHA:1979
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Thickened skin, Abn... ORPHA:659
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Pili Torti-Onychodysplasia Syndrome
Dry skin, Generalized keratosis follicularis, Eczema, Palmoplantar keratoderma ORPHA:2890
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Mastocytosis, Cutaneous
Urticaria, Erythema, Edema, Telangiectasia macularis eruptiva perstans OMIM:154800
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... OMIM:267450
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Irida Syndrome
Hyperkeratosis, Pallor, Ichthyosis ORPHA:209981
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Redundant skin, Gingival hyperkeratosis, Hyperextensible skin, Blepharochalasis, Soft, doughy ski... OMIM:225410
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Inflammatory abnormality of the skin, Hyperkeratosis, Ichthyosis, Dry skin OMIM:610768
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Edema, Acantholysis, Palmoplantar hyperkeratosis, Death in adolescence,... OMIM:605676
Cutaneous Small Vessel Vasculitis
Skin rash, Recurrent skin infections, Cutis marmorata, Erythema, Urticaria, Abnormal oral cavity ... ORPHA:889
Palmoplantar Keratoderma, Epidermolytic, 1
Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm... OMIM:144200
Familial Cold Autoinflammatory Syndrome 3
Recurrent sinopulmonary infections, Allergic rhinitis, Pruritus, Angioedema, Erythema, Asthma, De... OMIM:614468
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Lichen Planopilaris
Pruritus, Hyperkeratosis, Skin ulcer ORPHA:525
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Immunodeficiency 58
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Psoriasiform lesion, All... OMIM:618131
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Skin ulcer, Dehydration ORPHA:33355
Jessner Lymphocytic Infiltration Of The Skin
Pruritus, Cutaneous photosensitivity, Erythema ORPHA:33314
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Skin rash, Eczema, Abnormality of th... ORPHA:2314
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Persistence of primary teeth, Erythema, Recurrent ... OMIM:147060
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... ORPHA:2902
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta... ORPHA:330058
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Chronic Mucocutaneous Candidiasis
Recurrent respiratory infections, Skin rash, Abnormal dental enamel morphology, Pruritus, Erythem... ORPHA:1334
Primary Erythromelalgia
Pruritus, Recurrent respiratory infections, Erythema ORPHA:90026
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper... OMIM:620014
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin ORPHA:1028
Iga Pemphigus
Neutrophilic infiltration of the skin, Acantholysis, Pustule, Pruritus, Skin vesicle, Cutaneous a... ORPHA:555905
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis OMIM:615225
Neonatal Lupus Erythematosus
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash ORPHA:398124
Vibratory Urticaria
Urticaria, Flushing, Facial erythema OMIM:125630
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema, Facial erythema OMIM:618307
Leopard Syndrome 3
Hyperkeratosis, Dry skin, Epidermal hyperkeratosis OMIM:613707
Dermatofibrosarcoma Protuberans
Thickened skin, Erythema, Skin ulcer ORPHA:31112
Diffuse Cutaneous Mastocytosis
Pruritus, Thickened skin, Wheezing, Darier's sign, Urticaria, Dermatographic urticaria, Scaling s... ORPHA:79456
Prolidase Deficiency
Recurrent respiratory infections, Carious teeth, Pruritus, Erythema, Crusting erythematous dermat... ORPHA:742
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, Cobblestone-... OMIM:602540
Werner Syndrome
Miscarriage, Prematurely aged appearance, Telangiectasia of the skin, Pulmonary artery stenosis, ... ORPHA:902
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Death in infancy, Erythema OMIM:219095
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Interstitial pn... ORPHA:454831
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Perioral erythema, Ichthyosis OMIM:248300
Meige Disease
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... ORPHA:90186
Ichthyosis With Confetti
Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital nonbullous ichthyos... OMIM:609165
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... OMIM:606545
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... ORPHA:2897
Erythema Of Acral Regions
Erythema, Abnormality of the dentition OMIM:227000
Erosive Pustular Dermatosis Of The Scalp
Pustule, Erythema ORPHA:222
Quinquaud Folliculitis Decalvans
Pustule, Erythema, Recurrent skin infections ORPHA:346
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin OMIM:247100
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema ORPHA:90160
Inflammatory Skin And Bowel Disease, Neonatal, 2
Epidermal acanthosis, Polyhydramnios, Pustule, Recurrent pneumonia, Dehydration, Recurrent bronch... OMIM:616069
Cole Disease
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:615522
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis ORPHA:89843
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... OMIM:615023
Maculopapular Cutaneous Mastocytosis
Pruritus, Dyspnea, Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of ... ORPHA:79457
Phenylketonuria
Scleroderma, Dry skin, Eczema OMIM:261600
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Pruritus, Plantar hyperkeratosis OMIM:616487
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i... ORPHA:90159
Lupus Erythematosus Tumidus
Cutaneous photosensitivity, Deep dermal perivascular inflammatory infiltrate, Scaling skin ORPHA:90283
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis... ORPHA:280779
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Acantholysis, Facial edema, Pruritus, Pustule, Eosi... ORPHA:293173
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Hyperextensible skin, Dermal translucency OMIM:619120
Ichthyosis, Congenital, Autosomal Recessive 2
Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythro... OMIM:242100
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... ORPHA:70588
Transgrediens Et Progrediens Palmoplantar Keratoderma
Recurrent bacterial skin infections, Plantar hyperkeratosis, Angular cheilitis, Thickened skin, D... ORPHA:495
Dowling-Degos Disease
Pruritus, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Acne inversa ORPHA:79145
Ichthyosis Prematurity Syndrome
Polyhydramnios, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma OMIM:608649
Polyarteritis Nodosa
Cutis marmorata, Abnormal lung morphology, Erythema, Skin ulcer, Pleuritis ORPHA:767
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... OMIM:148700
Amyloidosis, Primary Localized Cutaneous, 1
Pruritus, Dry skin, Scaling skin OMIM:105250
Macs Syndrome
Irregular dentition, Palpebral edema, Redundant skin, Bronchiectasis, Gingival overgrowth, Cutis ... OMIM:613075
Aicardi-Goutieres Syndrome 5
Chilblains, Dry skin, Scaling skin OMIM:612952
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Stiff Skin Syndrome
Thickened skin, Lack of skin elasticity ORPHA:2833
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Crusting erythematous dermatitis, Palmoplantar hyperkeratosis, Telangiectasia, Thin ski... ORPHA:158673
Leri Pleonosteosis
Thickened skin, Lack of skin elasticity ORPHA:2900
Moynahan Syndrome
Hyperkeratosis ORPHA:2574
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... ORPHA:70587
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Dowling-Degos Disease 4
Pruritus, Epidermal acanthosis, Hypergranulosis OMIM:615696
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Hi... OMIM:612940
Grubben-De Cock-Borghgraef Syndrome
Dry skin, Eczema ORPHA:2101
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Glutamine Deficiency, Congenital
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Erythema, Thin vermilion ... OMIM:610015
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Chronic sinusitis, Recurre... OMIM:604571
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Cutaneous photosensitivity, V... ORPHA:163525
Darier-White Disease
Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis OMIM:124200
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Polyhydramnios, Atelectasis, High palate, Neonatal death OMIM:300219
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Neu-Laxova Syndrome
Abnormality of the philtrum, Polyhydramnios, Submucous cleft hard palate, Lack of skin elasticity... ORPHA:2671
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Chronic Hiccup
Dehydration, Abnormal eating behavior ORPHA:396
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Follicular hyperkeratosis OMIM:615147
Classic Phenylketonuria
Eczema, Lack of skin elasticity ORPHA:79254
Familial Cold Urticaria
Pruritus, Urticaria, Erythema, Dehydration ORPHA:47045
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Hyperextensible skin, Dermal translucency OMIM:619115
Gaucher Disease, Perinatal Lethal
Respiratory distress, Everted upper lip vermilion, Apnea, Nonimmune hydrops fetalis, Polyhydramni... OMIM:608013
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin OMIM:218650
Autoinflammation With Arthritis And Dyskeratosis
Dry skin, Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617388
Uv-Sensitive Syndrome 3
Dry skin OMIM:614640
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Ectodermal Dysplasia/Skin Fragility Syndrome
Ectodermal dysplasia, Fragile skin, Scaling skin, Palmoplantar hyperkeratosis OMIM:604536
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Acantholysis ORPHA:704
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Dermal translucency ORPHA:529965
Keratolytic Winter Erythema
Erythema OMIM:148370
Noonan Syndrome 8
Eczema, Polyhydramnios, Hyperkeratosis, Hyperextensible skin, Palmoplantar cutis laxa, Pleural ef... OMIM:615355
Pierpont Syndrome
Smooth philtrum, Thin upper lip vermilion, Abnormal subcutaneous fat tissue distribution, Thin ve... ORPHA:487825
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Abnormal dental morphology, Recurrent skin infections, Abnormality of the dentition,... ORPHA:158668
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Hyperkeratosis, Dry skin, Death in infancy OMIM:614576
Ataxia-Photosensitivity-Short Stature Syndrome
Dry skin ORPHA:1184
Ichthyosis, Congenital, Autosomal Recessive 7
Ichthyosis, Palmoplantar keratoderma, Hypergranulosis, Erythroderma OMIM:615022
Acrokeratoelastoidosis Of Costa
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis ORPHA:38
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Dehydration, Decreased circulating carnitine co... ORPHA:79159
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Soft, doughy skin, Hyperextensible skin, Oligohydramnios, Dermal translucency ORPHA:541423
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Fragile skin ORPHA:542592
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
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Stillbirth, Ortho... OMIM:308050
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Uv-Sensitive Syndrome 1
Dry skin OMIM:600630
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Erythema ORPHA:36237
Dermoodontodysplasia
Dry skin OMIM:125640
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Hyperextensible skin, Follicular hyperkeratosis ORPHA:300179
Recon Progeroid Syndrome
Dental crowding, Progeroid facial appearance, Livedo reticularis, Cutaneous photosensitivity, Thi... OMIM:620370
Pilarowski-Bjornsson Syndrome
Dermal translucency OMIM:617682
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Lipoid Proteinosis
Recurrent respiratory infections, Nasal polyposis, Acne, Abnormal oral mucosa morphology, Pustule... ORPHA:530
Odontoonychodermal Dysplasia
Plantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Erythema, Abnormality of primary t... OMIM:257980
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis, Tented upper lip vermilion, Acrocyanosis ORPHA:896
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis OMIM:618625
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lack of facial subcuta... ORPHA:90156
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Chronic oral candidiasis, Psoriasiform dermatitis, Eczema, Pulm... OMIM:606367
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Pseudoxanthoma Elasticum
Acne, Skin rash, Telangiectasia of the skin, Pruritus, Lack of skin elasticity, Excessive wrinkle... ORPHA:758
Hypohidrotic Ectodermal Dysplasia
Hyperkeratosis, Dry skin, Xerostomia, Eczema ORPHA:238468
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Erythema Palmare Hereditarium
Erythema OMIM:133000
Benign Chronic Pemphigus
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Dry skin, Scaling skin, Palmoplantar keratoderma OMIM:618373
Flynn-Aird Syndrome
Hyperkeratosis OMIM:136300
Dermatitis Herpetiformis
Eczema, Edema, Pruritus, Erythema, Urticaria, Skin vesicle ORPHA:1656
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Telangiectasia of the skin, Dental crowding, Lack of skin elasticity, Narrow mouth OMIM:615381
X-Linked Dominant Chondrodysplasia Punctata
Abnormal lung morphology, Erythroderma, High palate, Scaling skin, Ichthyosis ORPHA:35173
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine growth retardation, Dehydration OMIM:601410
Cutis Laxa, Autosomal Dominant 3
Premature skin wrinkling, Cutis laxa, Dermal translucency OMIM:616603
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas ORPHA:79452
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Peeling Skin Syndrome 1
Pruritus, Asthma, Scaling skin, Erythroderma OMIM:270300
Autosomal Erythropoietic Protoporphyria
Eczema, Edema, Pruritus, Erythema, Cutaneous photosensitivity ORPHA:79278
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Urticaria, Everted lower lip vermilion, Abnormal dental morphology, Palmoplantar keratoderma ORPHA:2251
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Erythroderma, ... OMIM:615508
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Redundant skin, Progeroid facial appearance, Periorbital edema, Atelectasis, Re... OMIM:613177
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Death in infancy, Dehydration OMIM:251850
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Eczema, Premature loss of primary teeth, Abnormality of the dentition... ORPHA:2907
8Q22.1 Microdeletion Syndrome
Long philtrum, Submucous cleft hard palate, Lack of skin elasticity, Abnormality of the dentition ORPHA:178303
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer ORPHA:36386
Ehlers-Danlos Syndrome, Classic Type, 2
Hyperextensible skin, Recurrent sinusitis, Soft, doughy skin, Bruising susceptibility, Fragile sk... OMIM:130010
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Soft skin, Hyperextensible skin, Cutis laxa, Dermal translucency OMIM:615349
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Chronic mucocutaneous candidiasis... OMIM:618282
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Carious teeth, Recurrent pneumonia, Dehydration, Death in childhood, T... OMIM:214150
Mycosis Fungoides
Pruritus, Erythema, Eczema, Psoriasiform dermatitis OMIM:254400
Mpdu1-Cdg
Thin vermilion border, Eczema, Scaling skin, Ichthyosis ORPHA:79323
Adult-Onset Still Disease
Skin rash, Pruritus, Recurrent pharyngitis, Erythema, Joint swelling, Restrictive ventilatory def... ORPHA:829
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Enanthema, Dyspnea, Angioedema, Erythema, Pustule, Erythroderma, Pulmonary infiltrates... ORPHA:139402
Tempi Syndrome
Transudative pleural effusion, Facial erythema, Hypoxemia, Telangiectasia, Abnormality of the pul... ORPHA:284227
Omenn Syndrome
Edema, Pruritus, Thickened skin, Erythroderma, Dry skin ORPHA:39041
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Skin rash, Cutis marmorata, Pustule, Erythema, Tachypnea, Lived... OMIM:615934
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Dry skin, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkerat... ORPHA:69087
Trichothiodystrophy 1, Photosensitive
Death in infancy, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma,... OMIM:601675
Ehlers-Danlos Syndrome, Hypermobility Type
Soft skin, Hyperextensible skin, Striae distensae OMIM:130020
Fountain Syndrome
Cutis marmorata, Facial edema, Thick lower lip vermilion, Erythema, Gingival overgrowth, Wide mou... ORPHA:3219
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Thin upper lip vermilion, Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Whe... OMIM:620233
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Acanthosis nigricans, Dry skin ORPHA:3085
Graft Versus Host Disease
Inflammatory abnormality of the skin, Maculopapular exanthema, Pneumonia, Jaundice, Oral ulcer, P... ORPHA:39812
Protoporphyria, Erythropoietic, 1
Pruritus, Erythema, Eczema, Edema OMIM:177000
Limited Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Skin ulcer, Pulmonary fibrosis, Pulmonary arterial hypertension, Muco... ORPHA:220402
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Intrauterine growth retardation, Thin vermilion border, Everted lower lip vermilion, Smooth philtrum ORPHA:73273
Snakebite Envenomation
Epistaxis, Edema, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Gingival blee... ORPHA:449285
Cutis Laxa, Autosomal Recessive, Type Iiib
Excessive wrinkled skin, Cutis laxa, Dermal translucency OMIM:614438
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Dehydration, Dystonia ORPHA:289504
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth ORPHA:2016
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Eryth... ORPHA:420741
Riddle Syndrome
Dry skin OMIM:611943
Nicolaides-Baraitser Syndrome
Eczema, High, narrow palate, Wide mouth, Excessive wrinkled skin, Thin vermilion border, Everted ... ORPHA:3051
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Pneumonia, Pruritus, Thickened skin, Erythema, Thick lower lip vermil... ORPHA:2135
Trichothiodystrophy 6, Nonphotosensitive
Dry skin, Ichthyosis OMIM:616943
Kanzaki Disease
Hyperkeratosis, Dry skin, Petechiae, Lymphedema OMIM:609242
Man1B1-Cdg
Thin upper lip vermilion, Cutis laxa, Thick vermilion border, Short philtrum, Eclabion, Smooth ph... ORPHA:397941
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Dermal translucency, Soft, doughy skin, Repeated pneumothoraces, Carious te... ORPHA:536467
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Rhizomelic Chondrodysplasia Punctata
Dry skin, Ichthyosis ORPHA:177
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... ORPHA:217390
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Autosomal Recessive Cutis Laxa Type 1
Redundant skin, Pneumothorax, Recurrent pneumonia, Lack of skin elasticity, Respiratory insuffici... ORPHA:90349
Baralle-Macken Syndrome
Acanthosis nigricans, Striae distensae OMIM:619255
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Skin rash, Recurrent skin infections, Bronchiectasis... ORPHA:33110
Renal Hypodysplasia/Aplasia 2
Redundant skin, Pulmonary hypoplasia OMIM:615721
Proteus Syndrome
Hyperkeratosis OMIM:176920
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Striae distensae, Hyperextensible skin, Thin skin, Bruising susceptibility, Petechiae OMIM:225310
Bullous Pemphigoid
Urticaria, Erythema, Eczema, Psoriasiform dermatitis ORPHA:703
14Q11.2 Microdeletion Syndrome
Exaggerated cupid's bow, Deep philtrum, Everted lower lip vermilion, High palate, Narrow mouth, L... ORPHA:261120
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess OMIM:619986
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... ORPHA:244
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Complex Regional Pain Syndrome
Edema of the upper limbs, Erythema, Dry skin, Pedal edema ORPHA:83452
Bone Marrow Failure Syndrome 4
Dry skin, Eczema OMIM:618116
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Follicular hyperkeratosis OMIM:613102
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Redundant neck skin, Nonimmune hydrops fetalis, Pulmonary arterial... OMIM:619003
Pemphigus Erythematosus
Malar rash, Acantholysis ORPHA:79480
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Lujo Hemorrhagic Fever
Respiratory distress, Generalized edema, Maculopapular exanthema, Skin rash, Crackles, Facial ede... ORPHA:319213
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion,... OMIM:616898
Rheumatic Fever
Sinusitis, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, Erythema, Respiratory in... ORPHA:3099
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Dehydration, Dysphagia OMIM:618958
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Lymphedema ORPHA:79279
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Cutis laxa OMIM:614100
Restrictive Dermopathy 1
Natal tooth, Prominent superficial blood vessels, Polyhydramnios, Epidermal hyperkeratosis, Submu... OMIM:275210
Juvenile Dermatomyositis
Palpebral edema, Skin rash, Telangiectasia of the skin, Pruritus, Dyspnea, Erythema, Skin ulcer, ... ORPHA:93672
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Skin rash, Pneumonia, Edema, Recurrent skin infections, Respirat... ORPHA:36234
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Atelis Syndrome 1
Dry skin, Eczema OMIM:620184
Mandibuloacral Dysplasia With Type A Lipodystrophy
Prematurely aged appearance, Progeroid facial appearance, Abnormality of the dentition, Lack of s... ORPHA:90153
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Recurrent sinopulmonary infections, Interstitial pneumonitis, Erythema OMIM:614878
Cofs Syndrome
Intrauterine growth retardation, Cutaneous photosensitivity, Everted lower lip vermilion, Death i... ORPHA:1466
Central Diabetes Insipidus
Hyponatremia, Polydipsia, Dehydration, Anorexia ORPHA:178029
Dracunculiasis
Pruritus, Recurrent cutaneous abscess formation, Skin rash, Skin ulcer ORPHA:231
Ichthyosis, Congenital, Autosomal Recessive 11
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:602400
Chand Syndrome
Atelectasis, Bifid tongue, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morp... ORPHA:1401
Fixed Drug Eruption
Erythema, Crusting erythematous dermatitis, Oral ulcer, Stomatitis, Generalized abnormality of skin ORPHA:293812
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... ORPHA:2025
Ramon Syndrome
Hyperkeratosis ORPHA:3019
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Chilblain Lupus 1
Chilblains, Skin ulcer OMIM:610448
Cdkl5-Deficiency Disorder
Deep philtrum, Everted lower lip vermilion, Thick vermilion border, Abnormal respiratory system p... ORPHA:505652
Spinocerebellar Ataxia Type 34
Dry skin ORPHA:1955
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Dry skin OMIM:600906
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Plantar hyperkeratosis, Hyperkeratotic papule, Palmar hyperkeratosis ORPHA:79397
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Dry skin ORPHA:248
Restrictive Dermopathy
Polyhydramnios, Epidermal hyperkeratosis, Scaling skin, Generalized hyperkeratosis, Dermal transl... ORPHA:1662
Attenuated Chédiak-Higashi Syndrome
Recurrent respiratory infections, Epistaxis, Skin ulcer, Gingival bleeding, Bruising susceptibility ORPHA:352723
Cutis Laxa-Marfanoid Syndrome
Emphysema, Redundant skin ORPHA:171719
Arthrogryposis And Ectodermal Dysplasia
Hyperkeratosis, Dry skin OMIM:601701
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Juvenile Hyaline Fibromatosis
Death in infancy, Gingival fibromatosis, Skin ulcer, Gingival overgrowth ORPHA:2028
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, High palate, Eczema... OMIM:259100
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Edema, Lymphedema, Thickened skin, Skin ulcer, Thick vermilion border, Chylothorax, Scaling skin,... ORPHA:2526
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Hyperammonemia, Dehydration, Choreoathetosis, Dystonia ORPHA:79312
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Recurrent upper respiratory tract infections, Oral ulcer, Erythroderma, Recu... ORPHA:169154
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin OMIM:614450
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Carious teeth, Facial erythema, Folliculitis, Palmoplantar keratoderma, Enamel hypoplasia OMIM:612843
Transient Neonatal Diabetes Mellitus
Macroglossia, Intrauterine growth retardation, Dehydration ORPHA:99886
Intellectual Developmental Disorder, X-Linked 19
Thick lower lip vermilion, Dental crowding, Everted lower lip vermilion OMIM:300844
Isolated Agammaglobulinemia
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn... ORPHA:229717
Warty Dyskeratoma
Acrokeratosis, Epidermal thickening, Acantholysis ORPHA:69745
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Hyperkalemia, Dehydration, Increased ci... OMIM:610600
Elastoderma
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa ORPHA:228240
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Acanthosis nigricans, Dry skin OMIM:268020
Cardiofaciocutaneous Syndrome
Redundant skin, Lymphedema, Excessive wrinkled skin, Hyperkeratosis, Hyperextensible skin, Palmop... ORPHA:1340
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Everted upper lip vermilion, Conical tooth, Oligodontia, Thick vermilion border, Periorbital wrin... OMIM:224900
Acrogeria
Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Excessive wrinkled skin, Thi... ORPHA:2500
Warburg-Cinotti Syndrome
Dental crowding, Poor wound healing, Erythema, Pneumothorax, Gingival overgrowth, Joint swelling,... OMIM:618175
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death, Acantholysis OMIM:609638
Intellectual Developmental Disorder, Autosomal Dominant 62
Striae distensae OMIM:618793
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Dry skin OMIM:129490
Maxillonasal Dysplasia
Open bite, Cleft palate, Tooth agenesis, Microdontia, Striae distensae ORPHA:1248
Free Sialic Acid Storage Disease
Recurrent respiratory infections, Ascites, Hydrops fetalis, Skin ulcer ORPHA:834
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Recurrent skin infections, Recurrent pneumonia, Pyoderma gang... OMIM:616576
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Polyhydramnios, Edema, Hamartoma of tongue, Atelectasis, Respirato... OMIM:269860
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Recurrent respiratory infections, Conical tooth, Xerostomia, Ectodermal dysplasia, Rhinitis, Ever... OMIM:614941
Mitral Valve Prolapse 1
High, narrow palate, High palate, Striae distensae OMIM:157700
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Immotile cilia... OMIM:244400
Hypothyroidism, Congenital, Nongoitrous, 4
Dry skin OMIM:275100
Autosomal Dominant Prognathism
Open bite, Everted lower lip vermilion ORPHA:2964
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:281090
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Death in infancy, Subungual hyperkeratosis, Perianal erythema, Eczema, R... OMIM:308205
Pierpont Syndrome
Smooth philtrum, Prominent median palatal raphe, Thin vermilion border, Widely spaced teeth, Ever... OMIM:602342
Immunodeficiency 23
Recurrent respiratory infections, Allergic rhinitis, Eczema, Asthma, Erythema, Bronchiectasis, Ch... OMIM:615816
Dermatomyositis
Recurrent respiratory infections, Telangiectasia of the skin, Edema, Periorbital edema, Pruritus,... ORPHA:221
Atypical Werner Syndrome
Prominent superficial veins, Prematurely aged appearance, Telangiectasia of the skin, Progeroid f... ORPHA:79474
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Skin ulcer, Thin skin, Subcutaneous hemorrhage, Purpura ORPHA:743
Loeys-Dietz Syndrome 4
Broad uvula, High, narrow palate, Pneumothorax, Hyperextensible skin, High palate, Emphysema, Bru... OMIM:614816
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Persistence of primary teeth, Thick lower lip vermilion, Overjet, High palate, S... OMIM:618342
De Barsy Syndrome
Excessive wrinkled skin, Cutis laxa, Dermal translucency ORPHA:2962
Vitamin B12-Responsive Methylmalonic Acidemia
Hyperammonemia, Dehydration ORPHA:28
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hyperparakeratosis, Seborrheic dermatitis ORPHA:276280
Prolidase Deficiency
Petechiae, Eczema, Asthma, Recurrent pneumonia, Crusting erythematous dermatitis, Diffuse telangi... OMIM:170100
Fibromuscular Dysplasia, Multifocal
Soft skin, Hyperextensible skin, Soft, doughy skin, Striae distensae, Dermal translucency OMIM:619329
Hatipoglu Immunodeficiency Syndrome
Eczema, Thickened skin, Atopic dermatitis, Dry skin, Petechiae OMIM:620331
Pituitary Adenoma 4, Acth-Secreting
Edema, Poor wound healing, Facial erythema, Thin skin, Ecchymosis, Bruising susceptibility, Stria... OMIM:219090
Microcephalic Primordial Dwarfism, Montreal Type
Dry skin ORPHA:2617
Dermoodontodysplasia
Dry skin ORPHA:1660
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa OMIM:617337
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Wide mouth, Thin upper lip vermilion, Everted lower lip vermilion, Short philtrum ORPHA:2429
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Acanthosis nigricans, Dry skin OMIM:262190
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Oligodontia, Everted lower lip vermilion, Anodontia ORPHA:276630
Xeroderma Pigmentosum Variant