Gene Summary

ATP-binding cassette, sub-family A (ABC1), member 12
4833417A11Rik,  4832428G11Rik

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased grip strength Abca12em1(IMPC)J HET   Early adult 7.46×10-05
abnormal outer ear morphology Abca12em1(IMPC)J HOM E18.5 0.00
preweaning lethality, complete penetrance Abca12em1(IMPC)J HOM   Early adult 0.00
abnormal facial morphology Abca12em1(IMPC)J HOM E18.5 0.00
abnormal skin appearance Abca12em1(IMPC)J HOM E18.5 0.00
edema Abca12em1(IMPC)J HOM E18.5 0.00

Download data as:  TSV  XLS

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

lacZ Expression

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.

Combined SHIRPA and Dysmorphology


3 Images

Electroretinography 3

Fundus file

13 Images


XRay Images Skull Lateral Orientation

9 Images

Gross Morphology Placenta E18.5


3 Images

Electrocardiogram (ECG)

Waveform Image

15 Images


XRay Images Forepaw

9 Images


XRay Images Whole Body Lateral Orientation

9 Images


XRay Images Whole Body Dorso Ventral

9 Images


XRay Images Skull Dorso Ventral Orientation

9 Images

Gross Morphology Embryo E18.5


2 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
Matching phenotypes Source
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis OMIM:146750
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperke... OMIM:148730
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Stria... ORPHA:64745
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617574
Porokeratosis Of Mibelli
Pruritus, Porokeratosis, Hyperkeratosis ORPHA:735
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Congenital ichthyosiform erythroderma, Hyperkeratosis OMIM:270220
Thickened skin, Hyperkeratosis ORPHA:1659
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis ORPHA:737
Acquired Ichthyosis
Pruritus, Palmoplantar keratoderma, Erythema, Recurrent skin infections, Ichthyosis, Hyperkeratos... ORPHA:454
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome
Palmoplantar keratoderma, Ichthyosis ORPHA:281201
Palmoplantar Keratoderma, Punctate Type Ii
Spinous keratoses of palms and soles, Porokeratosis OMIM:175860
Cole Disease
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:615522
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Linear arrays of macular hyperkeratoses in flexural areas, Parakeratosis, Congenital nonbullous i... OMIM:601952
Bazex Syndrome
Acanthosis nigricans, Pruritus, Edema, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, S... ORPHA:166113
White Sponge Nevus 2
Edema, Hyperparakeratosis OMIM:615785
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Orthokeratotic hyperkeratosis, Edema, Palmoplantar keratoderma, Palmar pruritu... ORPHA:498359
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Huriez Syndrome
Dry skin, Palmoplantar keratoderma, Lack of skin elasticity, Sclerodactyly ORPHA:384
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Vohwinkel Syndrome, Variant Form
Hyperkeratosis, Orthokeratosis, Hypergranulosis, Parakeratosis OMIM:604117
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Psoriasis 2
Hyperkeratosis, Psoriasiform dermatitis, Scaling skin, Parakeratosis OMIM:602723
Acrokeratosis Verruciformis
Acrokeratosis, Hyperkeratosis OMIM:101900
Lamellar Ichthyosis
Erythroderma, Pruritus, Lack of skin elasticity, Ichthyosis, Hyperkeratosis, Dry skin, Dehydration ORPHA:313
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Pruritus, Erythema migrans, Skin vesicle, Parakeratosis ORPHA:158681
Ichthyosis, Congenital, Autosomal Recessive 6
Dry skin, Erythroderma, Palmoplantar keratoderma, Generalized ichthyosis, Parakeratosis, Congenit... OMIM:612281
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Pruritus, Parakeratosis, Hyperkeratosis, Scaling skin ORPHA:90368
Palmoplantar Keratoderma And Congenital Alopecia 2
Sclerodactyly, Facial erythema, Hyperkeratosis, Dry skin, Palmoplantar hyperkeratosis OMIM:212360
Keratoderma Hereditarium Mutilans With Ichthyosis
Palmoplantar keratoderma, Generalized ichthyosis, Parakeratosis, Hypergranulosis, Congenital nonb... ORPHA:79395
Vulvovaginal Gingival Syndrome
Pruritus, Erythema, Parakeratosis ORPHA:83453
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Porokeratosis 3, Multiple Types
Porokeratosis, Parakeratosis OMIM:175900
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Pruritus, Erythema, Hyperkeratosis, Scaling skin OMIM:617571
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis OMIM:173200
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Classic Mycosis Fungoides
Eczema, Pruritus, Edema, Erythema, Skin rash, Hyperkeratosis, Dry skin, Skin ulcer ORPHA:2584
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Palmoplantar Keratoderma, Nagashima Type
Hypergranulosis, Orthokeratotic hyperkeratosis OMIM:615598
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Palmoplantar keratoderma, Erythema, Parakeratosis, Ichthyosis, Hyperkeratosis OMIM:615821
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Dry skin, Erythema, Scaling skin, Nonepidermolytic palmoplantar hyperkeratosis... ORPHA:530838
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis ORPHA:79503
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, Palmoplantar h... OMIM:300918
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Bathing Suit Ichthyosis
Erythroderma, Thickened skin, Parakeratosis, Congenital nonbullous ichthyosiform erythroderma, Ic... ORPHA:100976
Ulerythema Ophryogenesis
Hyperkeratotic papule, Contact dermatitis, Acne, Follicular hyperkeratosis, Facial erythema, Dry ... ORPHA:3406
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Palmoplantar keratoderma, Erythema, Hyperkeratosis OMIM:617525
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:604777
Acral Self-Healing Collodion Baby
Erythema, Localized epidermolytic hyperkeratosis, Lack of skin elasticity, Edema of the dorsum of... ORPHA:281127
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... ORPHA:284426
Recessive X-Linked Ichthyosis
Dry skin, Ichthyosis, Hyperkeratosis ORPHA:461
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Ichthyosis Vulgaris
Dry skin, Eczematoid dermatitis, Ichthyosis OMIM:146700
Olmsted Syndrome 2
Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Palmo... OMIM:619208
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Lack of skin elasticity ORPHA:1366
Olmsted Syndrome 1
Pruritus, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis OMIM:614594
Pachyonychia Congenita 4
Palmoplantar keratoderma, Hyperkeratosis OMIM:615728
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosif... ORPHA:312
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Erythema, Skin rash, Hyperkeratosis, Dry skin ORPHA:317
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Dermatitis, Atopic
Atopic dermatitis, Eczema, Pruritus, Recurrent skin infections, Ichthyosis, Facial erythema, Dry ... OMIM:603165
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin, Ichthyosis ORPHA:2271
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Pa... ORPHA:87503
Cutaneous Mastocytoma
Peau d'orange, Angioedema, Pruritus, Thickened skin, Erythema, Telangiectasia of the skin, Dermat... ORPHA:79455
Chilblain Lupus
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Malar rash, Skin rash... ORPHA:90280
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Pruritus ORPHA:505
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Dry skin, Cutis laxa, Generalized ichthyosis, Scaling skin, Generalized hyperkeratosis ORPHA:2269
Superficial Epidermolytic Ichthyosis
Acantholysis, Edema, Palmoplantar keratoderma, Erythema, Ichthyosis ORPHA:455
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... OMIM:613736
Atrophoderma Vermiculata
Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis, Erythema ORPHA:79100
Psoriasis 14, Pustular
Psoriasiform dermatitis, Erythema, Pustule, Parakeratosis OMIM:614204
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Dry skin, Orthokeratosis, Ichthyosis, Parakeratosis OMIM:607626
Congenital Disorder Of Glycosylation, Type If
Dry skin, Erythroderma, Scaling skin, Hyperkeratosis OMIM:609180
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa ORPHA:79148
Anonychia With Flexural Pigmentation
Follicular hyperkeratosis, Hyperkeratosis ORPHA:69125
Amyloidosis, Primary Localized Cutaneous, 3
Dry skin, Pruritus OMIM:617920
Parana Hard Skin Syndrome
Thickened skin, Hyperkeratosis ORPHA:2812
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Erythema, Diffuse palmoplantar hyperkeratosis, Skin ulcer ORPHA:2337
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
Congenital bullous ichthyosiform erythroderma, Erythema, Palmoplantar hyperkeratosis, Ichthyosis OMIM:607602
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, Parakeratosis OMIM:242300
Sjögren-Larsson Syndrome
Dry skin, Erythema, Ichthyosis, Hyperkeratosis ORPHA:816
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus, Erythema, Reduced subcutaneous adipose tissue, Mo... ORPHA:90158
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Maculopa... ORPHA:79147
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis OMIM:133200
Edema OMIM:614103
Netherton Syndrome
Erythroderma, Angioedema, Hypernatremic dehydration, Parakeratosis, Congenital nonbullous ichthyo... OMIM:256500
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema, Hypergranulosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform e... OMIM:613943
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Facial erythema, Dry skin OMIM:308800
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Erythema, Scaling skin, Ichthyosis, Hyperkeratosis, Dry skin OMIM:614457
Immunodeficiency 55
Dry skin, Eczema, Recurrent skin infections, Ichthyosis OMIM:617827
Ichthyosis With Confetti
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:609165
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:89838
Antisynthetase Syndrome
Respiratory insufficiency, Xerostomia, Pruritus, Edema, Pulmonary arterial hypertension, Telangie... ORPHA:81
Lichen Planus Pemphigoides
Pruritus, Skin vesicle, Hyperkeratosis ORPHA:254478
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Plantar hyperkeratosis, Palmar hyperkeratosis, Hyperkeratosis ORPHA:79399
Asbestos Intoxication
Wheezing, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea, Restrictive ventilatory de... ORPHA:2302
Hypotrichosis 6
Pruritus, Follicular hyperkeratosis, Erythema OMIM:607903
Acral Peeling Skin Syndrome
Eczema, Erythema, Ichthyosis, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Congenital Lethal Erythroderma
Dry skin, Congenital exfoliative erythroderma, Death in infancy, Ichthyosis ORPHA:1954
Trichothiodystrophy 7, Nonphotosensitive
Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma OMIM:618546
Progressive Symmetric Erythrokeratodermia
Palmoplantar keratoderma, Erythema ORPHA:316
Familial Benign Chronic Pemphigus
Erythema, Acantholysis, Skin vesicle, Hyperkeratosis ORPHA:2841
Harlequin Ichthyosis
Erythroderma, Ichthyosis, Hyperkeratosis, Dehydration, Congenital ichthyosiform erythroderma ORPHA:457
Epidermolytic Hyperkeratosis
Erythroderma, Congenital bullous ichthyosiform erythroderma, Scaling skin, Palmoplantar hyperkera... OMIM:113800
Netherton Syndrome
Eczema, Acanthosis nigricans, Erythroderma, Urticaria, Congenital nonbullous ichthyosiform erythr... ORPHA:634
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Tongue edema, Pharyngeal edema, Angioedema, Swollen lip, Erythema, Facial edema, Upper airway obs... ORPHA:100057
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Peeling Skin Syndrome 4
Palmoplantar keratoderma, Orthokeratosis, Ichthyosis, Hyperkeratosis, Scaling skin OMIM:607936
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Circumungual hyperkeratosis, Palmoplantar keratoderma, Gingival hyperke... ORPHA:2200
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Follicular hyperkeratosis, Abnormal elasticity of skin ORPHA:486815
Sézary Syndrome
Erythroderma, Pruritus, Edema, Palmoplantar keratoderma, Dry skin ORPHA:3162
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Edema, Recurrent pneumonia, Recurrent bronchiolitis, Dehydration, Epidermal acanthosis OMIM:616069
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Ichthyosis, Congenital, Autosomal Recessive 3
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Erythema, Hyperkeratosis OMIM:606545
Epidermolytic Palmoplantar Keratoderma
Epidermal hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Di... ORPHA:2199
Hyperkeratotic papule, Lymphedema, Pruritus, Edema, Hyperparakeratosis, Hyperkeratosis, Predomina... ORPHA:182
Costello Syndrome
Acanthosis nigricans, Polyhydramnios, Lack of skin elasticity, Hyperkeratosis, Redundant skin ORPHA:3071
Lymphatic Malformation 4
Lymphedema, Hyperkeratosis OMIM:615907
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
Pemphigus Foliaceus
Psoriasiform dermatitis, Erythroderma, Acantholysis, Pustule, Pruritus, Erythema, Abnormal oral m... ORPHA:79481
Acute Interstitial Pneumonia
Crackles, Respiratory failure, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Interlobular... ORPHA:79126
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Thickened skin, Palmoplantar keratoderma, Lack of skin elasticity ORPHA:1979
Erythrokeratodermia Variabilis Et Progressiva 2
Palmoplantar keratoderma, Erythema OMIM:617524
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Ichthyosis, Congenital, Autosomal Recessive 2
Palmoplantar keratoderma, Erythema, Hypergranulosis, Congenital nonbullous ichthyosiform erythrod... OMIM:242100
Mastocytosis, Cutaneous
Urticaria, Edema, Erythema, Telangiectasia macularis eruptiva perstans OMIM:154800
Pili Torti-Onychodysplasia Syndrome
Dry skin, Generalized keratosis follicularis, Eczema, Palmoplantar keratoderma ORPHA:2890
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Palmoplantar Carcinoma, Multiple Self-Healing
Follicular hyperkeratosis, Palmoplantar keratoderma, Parakeratosis OMIM:615225
Immunodeficiency 58
Eczema, Chronic bronchitis, Allergic rhinitis, Chronic pulmonary obstruction, Psoriasiform lesion... OMIM:618131
Familial Cold Autoinflammatory Syndrome 3
Allergic rhinitis, Angioedema, Recurrent sinopulmonary infections, Pruritus, Erythema, Cold urtic... OMIM:614468
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Carious teeth, Hypodontia, Neoplasm of the lung, Thickened skin, Palmoplantar keratoderma, Erythe... ORPHA:659
Sydenham Chorea
Erythema, Movement abnormality of the tongue, Recurrent streptococcus pneumoniae infections ORPHA:306731
Cutaneous Small Vessel Vasculitis
Abnormal oral cavity morphology, Erythema, Urticaria, Cutis marmorata, Recurrent skin infections,... ORPHA:889
Darier Disease
Pruritus, Subungual hyperkeratotic fragments, Palmoplantar keratoderma, Thickened skin, Acrokerat... ORPHA:218
Chronic Mucocutaneous Candidiasis
Abnormal lip morphology, Cheilitis, Pruritus, Erythema, Abnormal dental enamel morphology, Cough,... ORPHA:1334
Palmoplantar Keratoderma, Epidermolytic
Palmoplantar hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis, Localized epidermolyt... OMIM:144200
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Diffuse Cutaneous Mastocytosis
Wheezing, Erythroderma, Peau d'orange, Pruritus, Thickened skin, Dermatographic urticaria, Genera... ORPHA:79456
Irida Syndrome
Pallor, Ichthyosis, Hyperkeratosis ORPHA:209981
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Palmoplantar keratoderma, Angular cheilitis, Hyperkeratosis, Scaling skin, Epidermal acanthosis OMIM:616295
Peeling Skin Syndrome 1
Scaling skin, Pruritus, Erythema, Asthma OMIM:270300
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Cutis laxa, Ichthyosis, Hyperkeratosis OMIM:612379
Jessner Lymphocytic Infiltration Of The Skin
Pruritus, Erythema, Cutaneous photosensitivity ORPHA:33314
Macs Syndrome
Thick lower lip vermilion, Irregular dentition, High palate, Cutis laxa, Eclabion, Bronchiectasis... OMIM:613075
Neonatal Lupus Erythematosus
Parakeratosis, Malar rash, Skin rash, Maculopapular exanthema, Hyperkeratosis ORPHA:398124
Lichen Planopilaris
Pruritus, Skin ulcer, Hyperkeratosis ORPHA:525
Dermatofibrosarcoma Protuberans
Thickened skin, Erythema, Skin ulcer ORPHA:31112
Maculopapular Cutaneous Mastocytosis
Pruritus, Erythema, Dermatographic urticaria, Generalized abnormality of skin, Darier's sign, Flu... ORPHA:79457
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, High palate, Recurrent sinopulmonary infections, Erythema, Chronic mucocut... OMIM:147060
Palmoplantar Keratoderma, Punctate Type Ia
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Orthokeratosis OMIM:148600
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Hypoxemia, Atopic dermatitis, Crackles, Abnormal pulmonary thoracic imaging finding, Hy... ORPHA:2902
Leopard Syndrome 3
Epidermal hyperkeratosis, Dry skin, Hyperkeratosis OMIM:613707
Vibratory Urticaria
Urticaria, Flushing, Facial erythema OMIM:125630
Amelo-Onycho-Hypohidrotic Syndrome
Dry skin, Hyperkeratosis ORPHA:1028
Carious teeth, Widely spaced primary teeth, Dry skin, Microdontia of primary teeth, Scaling skin,... OMIM:257960
Reticular Dysgenesis
Recurrent respiratory infections, Dehydration, Skin ulcer, Skin rash ORPHA:33355
Meige Disease
Lymphedema, Edema of the dorsum of hands, Facial edema, Recurrent bacterial skin infections, Cobb... ORPHA:90186
Iga Pemphigus
Pustule, Acantholysis, Pruritus, Neutrophilic infiltration of the skin, Cutaneous abscess, Skin v... ORPHA:555905
Primary Erythromelalgia
Pruritus, Recurrent respiratory infections, Erythema ORPHA:90026
Cutaneous Photosensitivity And Colitis, Lethal
Death in infancy, Early cutaneous photosensitivity, Erythema OMIM:219095
Mal De Meleda
Perioral erythema, Congenital symmetrical palmoplantar keratosis, Ichthyosis OMIM:248300
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Hypodontia, Abnormality of primary molar morphology, Gingival bleeding, Spontaneous neonatal pneu... OMIM:225410
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Dry skin, Edema, Eczema OMIM:612947
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Pruritus, Dry skin, Cutis laxa OMIM:105250
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin, Erythema, Reduced subcutaneous adipose tissue ORPHA:90160
Erythema Of Acral Regions
Abnormality of the dentition, Erythema OMIM:227000
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Edema, Respiratory distress, Pulmonary edema, Dyspnea, ... OMIM:267450
Pityriasis Rubra Pilaris
Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Thickened skin, Palmoplantar k... ORPHA:2897
Autosomal Dominant Hyper-Ige Syndrome
Eczema, Cleft palate, Pruritus, Cough, Delayed eruption of teeth, Generalized abnormality of skin... ORPHA:2314
Erosive Pustular Dermatosis Of The Scalp
Erythema, Pustule ORPHA:222
Prolidase Deficiency
Carious teeth, Cutaneous photosensitivity, Pruritus, Erythema, Palmoplantar keratoderma, Thin ski... ORPHA:742
Quinquaud Folliculitis Decalvans
Erythema, Pustule, Recurrent skin infections ORPHA:346
Dry skin, Eczema, Scleroderma OMIM:261600
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Palmoplantar keratoderma, Erythroderma, Congenital ichthyosiform erythroderma OMIM:615024
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema, Stomatitis OMIM:618307
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... OMIM:615294
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Erythema, Reduced subcutaneous adipose tissue, Vasculitis i... ORPHA:90159
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis ORPHA:89843
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Stillbirth, Parakeratosis, Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:308050
Ciliary Dyskinesia, Primary, 29
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... OMIM:615872
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Dermal translucency, Hyperextensible skin OMIM:619120
Cutaneous Collagenous Vasculopathy
Diffuse telangiectasia, Petechiae, Vascular skin abnormality, Pruritus, Erythema, Prominent super... ORPHA:280779
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Rare Cutaneous Lupus Erythematosus
Vascular skin abnormality, Facial edema, Maculopapular exanthema, Cheilitis, Discoid lupus rash, ... ORPHA:535
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Ectodermal dysplasia, Palmoplantar hyperkeratosis, Fragile skin OMIM:604536
Ciliary Dyskinesia, Primary, 20
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615067
Transgrediens Et Progrediens Palmoplantar Keratoderma
High palate, Thickened skin, Angular cheilitis, Nonepidermolytic palmoplantar hyperkeratosis, Rec... ORPHA:495
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Aicardi-Goutieres Syndrome 5
Dry skin, Chilblains, Scaling skin OMIM:612952
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar keratoderma, Erythroderma, Ichthyosis, Hyperkeratosis OMIM:602540
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Streaks of hyperkeratosis along each fin... OMIM:148700
Dowling-Degos Disease
Hyperkeratotic papule, Pruritus, Acne inversa, Hyperkeratosis, Skin vesicle ORPHA:79145
Ichthyosis Prematurity Syndrome
Erythroderma, Pruritus, Polyhydramnios, Follicular hyperkeratosis, Generalized ichthyosis OMIM:608649
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lowe... OMIM:616726
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Hypergranulosis, O... OMIM:615508
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Leri Pleonosteosis
Thickened skin, Lack of skin elasticity ORPHA:2900
Stiff Skin Syndrome
Thickened skin, Lack of skin elasticity ORPHA:2833
Pulmonary Blastoma
Cough, Pulmonary infiltrates, Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma ORPHA:64741
Moynahan Syndrome
Hyperkeratosis ORPHA:2574
Pruritus, Hyperkeratosis ORPHA:79358
Grubben-De Cock-Borghgraef Syndrome
Dry skin, Eczema ORPHA:2101
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Neonatal death, Erythema, Thin vermilion border, Apnea, Recurrent ... OMIM:610015
Familial Keratoacanthoma
Skin ulcer, Hyperkeratosis ORPHA:493
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Telangiectasia, Narrow mouth, Lack of skin elasticity, Dental crowding, Scleroderma OMIM:615381
Polyarteritis Nodosa
Pleuritis, Erythema, Cutis marmorata, Abnormal lung morphology, Skin ulcer ORPHA:767
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Palmoplantar Keratoderma And Congenital Alopecia 1
Epidermal hyperkeratosis, Palmoplantar erythema, Palmoplantar keratoderma, Plantar hyperkeratosis OMIM:104100
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Palmoplantar keratoderma, Epidermal acanthosis OMIM:615735
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Telangiectasia, Cutaneous photosensitivity, Palmoplantar keratosis with erythema and scale, Eryth... ORPHA:158673
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Nonimmune hydrops fetalis, Intrauterine growth retardation, Ascites,... OMIM:608013
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... ORPHA:60032
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Elevated bronchoalveolar lavage flu... OMIM:610978
Neu-Laxova Syndrome
Cleft palate, Intrauterine growth retardation, Abnormality of the philtrum, Bifid uvula, Polyhydr... ORPHA:2671
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Cutis Laxa, Autosomal Recessive, Type Iiib
Excessive wrinkled skin, Dermal translucency, Cutis laxa OMIM:614438
Darier-White Disease
Acrokeratosis, Subungual hyperkeratotic fragments, Pruritus, Acantholysis OMIM:124200
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Atelectasis, Recurrent bronchitis OMIM:300455
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin OMIM:218650
Werner Syndrome
Neoplasm of the lung, Telangiectasia of the skin, Subcutaneous calcification, Prematurely aged ap... ORPHA:902
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Familial Cold Urticaria
Pruritus, Urticaria, Erythema, Dehydration ORPHA:47045
Anhidrosis, Familial Generalized, With Abnormal Or Absent Sweat Glands
Dry skin, Palmoplantar hyperkeratosis OMIM:206600
Autoinflammation With Arthritis And Dyskeratosis
Dry skin, Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617388
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Intrauterine growth retardation, Atelectasis, Transient pulmonary infiltrate... ORPHA:70588
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Dermal translucency, Hyperextensible skin OMIM:619115
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Respiratory tract infection, Pulmonary edema, Cyanosis, Respirat... ORPHA:70587
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Oligohydramnios, Dermal translucency, Soft, doughy skin, Hyperextensible skin ORPHA:541423
Classic Phenylketonuria
Eczema, Lack of skin elasticity ORPHA:79254
Uv-Sensitive Syndrome 3
Dry skin OMIM:614640
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis OMIM:616029
Keratolytic Winter Erythema
Erythema, Pustule ORPHA:50943
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Chronic Hiccup
Dehydration, Abnormal eating behavior ORPHA:396
Congenital Disorder Of Glycosylation, Type Iil
Dry skin, Death in infancy, Peau d'orange, Hyperkeratosis OMIM:614576
Pierpont Syndrome
Widely spaced teeth, Smooth philtrum, Long upper lip, Abnormal subcutaneous fat tissue distributi... ORPHA:487825
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Dermal translucency ORPHA:529965
Keratolytic Winter Erythema
Erythema OMIM:148370
Noonan Syndrome 8
Eczema, Palmoplantar cutis laxa, Polyhydramnios, Hyperextensible skin, Hyperkeratosis, Pleural ef... OMIM:615355
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, Erythroderma, Chronic oral candidiasis, Pulmonary infiltrates, P... OMIM:606367
Ectodermal Dysplasia-Skin Fragility Syndrome
Carious teeth, Cheilitis, Chapped lip, Pruritus, Palmoplantar keratoderma, Abnormality of dental ... ORPHA:158668
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Congenital ichthyosiform erythroderma, Epidermal acanthosis OMIM:615023
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Erythroderma, Follicular hyperkeratosis, Oligohydramnios, Scaling skin, Dry skin OMIM:308205
Keratoderma Hereditarium Mutilans
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:494
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Recurrent pneumonia, Atelectasis, Reduced subcutaneous adipose t... OMIM:268500
Ataxia-Photosensitivity-Short Stature Syndrome
Dry skin ORPHA:1184
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Chronic sinusitis, Bronchiolitis, Emphysema, Nasal polyposi... OMIM:604571
Ichthyosis, Congenital, Autosomal Recessive 7
Hypergranulosis, Palmoplantar keratoderma, Erythroderma, Ichthyosis OMIM:615022
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Erythema, Telangiectasia of the skin, Fragile skin, Skin ulcer ORPHA:542592
Odontoonychodermal Dysplasia
Erythema, Hypergranulosis, Orthokeratosis, Dry skin, Plantar hyperkeratosis OMIM:257980
Uv-Sensitive Syndrome 1
Dry skin OMIM:600630
Drug-Induced Localized Lipodystrophy
Erythema, Reduced subcutaneous adipose tissue ORPHA:90157
Acrokeratosis Verruciformis Of Hopf
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79151
Dry skin OMIM:125640
Pemphigus Vulgaris
Acantholysis, Recurrent cutaneous abscess formation ORPHA:704
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Dehydration, Elevated circulating acylcarnitine concentration ORPHA:79159
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lack of facial subcutaneous fat, Erythema, Reduced subcutan... ORPHA:90156
Bullous Impetigo
Erythema, Pustule, Recurrent bacterial skin infections ORPHA:36237
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis, Hyperextensible skin ORPHA:300179
Ectodermal Dysplasia-Syndactyly Syndrome 2
Congenital bullous ichthyosiform erythroderma, Follicular hyperkeratosis, Palmoplantar keratoderma OMIM:613576
Hypohidrotic Ectodermal Dysplasia
Dry skin, Eczema, Xerostomia, Hyperkeratosis ORPHA:238468
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Erythema OMIM:194400
Erythema Palmare Hereditarium
Erythema OMIM:133000
Benign Chronic Pemphigus
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Autosomal Erythropoietic Protoporphyria
Eczema, Cutaneous photosensitivity, Pruritus, Edema, Erythema ORPHA:79278
Dermatitis Herpetiformis
Eczema, Pruritus, Edema, Erythema, Urticaria, Skin vesicle ORPHA:1656
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Hypergranulosis ORPHA:38
Autosomal Recessive Cutis Laxa Type 1
Intrauterine growth retardation, Cutis laxa, Peripheral pulmonary artery stenosis, Respiratory in... ORPHA:90349
Flynn-Aird Syndrome
Hyperkeratosis OMIM:136300
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Pseudoxanthoma Elasticum
High palate, Excessive wrinkled skin, Pruritus, Acne, Telangiectasia of the skin, Striae distensa... ORPHA:758
Mednik Syndrome
Ichthyosis, Hyperkeratosis ORPHA:171851
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Plantar hyperkeratosis OMIM:616487
Milroy Disease
Lymphedema, Hyperkeratosis, Pedal edema, Erysipelas, Predominantly lower limb lymphedema ORPHA:79452
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology, Bronchiectasis, Chronic rhinitis, Chronic sinusiti... ORPHA:922
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hypodontia, High palate, Smooth philtrum, Short philtrum, Everted lower lip vermilion, Thick verm... OMIM:618342
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis OMIM:618625
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Erythema, Ichthyosis OMIM:609313
Granulomatous Slack Skin
Erythema, Cutis laxa, Redundant skin ORPHA:33111
Scaling skin, Eczema, Thin vermilion border, Ichthyosis ORPHA:79323
Tempi Syndrome
Hypoxemia, Telangiectasia, Ascites, Abnormality of the pulmonary vasculature, Facial erythema, Tr... ORPHA:284227
Diarrhea 2, With Microvillus Atrophy
Death in infancy, Dehydration OMIM:251850
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Dry skin, Acanthosis nigricans OMIM:618527
Lipoid Proteinosis
Thick lower lip vermilion, High palate, Pustule, Tongue nodules, Thickened skin, Microglossia, Ab... ORPHA:530
Adult-Onset Still Disease
Restrictive ventilatory defect, Pruritus, Pleuritis, Erythema, Skin rash, Recurrent pharyngitis, ... ORPHA:829
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine growth retardation, Dehydration OMIM:601410
X-Linked Dominant Chondrodysplasia Punctata
High palate, Erythroderma, Ichthyosis, Abnormal lung morphology, Scaling skin ORPHA:35173
Popov-Chang syndrome
Dry skin, Hyperkeratosis OMIM:618428
Kanzaki Disease
Dry skin, Lymphedema, Hyperkeratosis OMIM:609242
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... ORPHA:3348
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Abnormality of dental morphology, Urticaria, Palmoplantar keratoderma, Everted lower lip vermilion ORPHA:2251
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Pyoderma gangrenosum, Recurrent sinopulmonary infe... OMIM:616576
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Erythema, Pruritus OMIM:254400
Drug Reaction With Eosinophilia And Systemic Symptoms
Erythroderma, Pustule, Interstitial pneumonitis, Angioedema, Erythema, Cough, Pulmonary infiltrat... ORPHA:139402
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Acne inversa, Hyperkeratosis OMIM:617337
Naegeli-Franceschetti-Jadassohn Syndrome
Dry skin, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Subungual hyperkerat... ORPHA:69087
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Dehydration OMIM:143500
8Q22.1 Microdeletion Syndrome
Abnormality of the dentition, Lack of skin elasticity, Submucous cleft hard palate, Long philtrum ORPHA:178303
Dowling-Degos Disease 4
Hypergranulosis, Epidermal acanthosis OMIM:615696
Fountain Syndrome
Thick lower lip vermilion, Abnormal palate morphology, Wide mouth, Erythema, Gingival overgrowth,... ORPHA:3219
Hereditary Sensory And Autonomic Neuropathy Type 1
Penetrating foot ulcers, Skin ulcer, Hyperkeratosis ORPHA:36386
Kid Syndrome
Neoplasm of the tongue, Psoriasiform dermatitis, Lip fissure, Folliculitis, Recurrent cutaneous a... ORPHA:477
Hereditary Acrokeratotic Poikiloderma
Eczema, Pustule, Gingival bleeding, Open bite, Xerostomia, Erythema, Telangiectasia of the skin, ... ORPHA:2907
Snakebite Envenomation
Ecchymosis, Gingival bleeding, Angioedema, Edema, Erythema, Respiratory paralysis, Epistaxis, Res... ORPHA:449285
Protoporphyria, Erythropoietic, 1
Eczema, Pruritus, Edema, Erythema OMIM:177000
Omenn Syndrome
Erythroderma, Pruritus, Thickened skin, Edema, Dry skin ORPHA:39041
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Dry skin, Acanthosis nigricans ORPHA:3085
Ehlers-Danlos Syndrome, Classic Type, 2
Soft, doughy skin, Fragile skin, Hyperextensible skin, Soft skin, Recurrent sinusitis, Bruising s... OMIM:130010
Riddle Syndrome
Restrictive ventilatory defect, Telangiectasia, Pneumonia, Erythema, Chronic sinusitis, Conjuncti... ORPHA:420741
Ehlers-Danlos Syndrome, Hypermobility Type
Hyperextensible skin, Soft skin, Striae distensae OMIM:130020
Trichothiodystrophy 1, Photosensitive
Dry skin, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Hyperkeratosis OMIM:601675
Sting-Associated Vasculopathy, Infantile-Onset
Telangiectasia, Pustule, Tachypnea, Erythema, Malar rash, Cutis marmorata, Skin rash, Pulmonary f... OMIM:615934
Rhizomelic Chondrodysplasia Punctata
Dry skin, Ichthyosis ORPHA:177
Graft Versus Host Disease
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Pulmonary infiltrates, Maculopapular... ORPHA:39812
Hennekam-Beemer Syndrome
Thick lower lip vermilion, High palate, Respiratory insufficiency, Pneumonia, Pruritus, Thickened... ORPHA:2135
Autosomal Agammaglobulinemia
Sinusitis, High palate, Bronchiectasis, Cough, Recurrent skin infections, Skin rash, Recurrent re... ORPHA:33110
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Exertional dyspnea, Atelectasis, Pulmonary fibrosis, Bronchiolitis ORPHA:254361
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Hyperkeratotic papule, Pruritus, Skin vesicle ORPHA:79410
Riddle Syndrome
Dry skin OMIM:611943
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Thin vermilion border, Smooth philtrum, Intrauterine growth retardation, Everted lower lip vermilion ORPHA:73273
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Honeycomb lung, Hypoxemia, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... ORPHA:79127
Smooth philtrum, Eclabion, Cutis laxa, Short philtrum, Thick vermilion border, Thin upper lip ver... ORPHA:397941
Xfe Progeroid Syndrome
Dry skin, Ascites OMIM:610965
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Hypodontia, Smooth philtrum, Long philtrum, Thin vermilion border, Scaling skin, Dry skin OMIM:618419
Rheumatic Fever
Sinusitis, Respiratory insufficiency, Erythema, Epistaxis, Abnormal pleura morphology, Recurrent ... ORPHA:3099
Bronchogenic Cyst
Pneumonia, Bronchogenic cyst, Cough, Abnormal pleura morphology, Pulmonary cyst, Dyspnea, Abnorma... ORPHA:2357
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Telangiectasia of the skin, Pulmonary fibrosis, Mucosal telangie... ORPHA:220402
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Bone Marrow Failure Syndrome 4
Dry skin, Eczema OMIM:618116
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Pneumonia, Recurrent bacterial skin infections, Asthma, Recurrent sinusitis, R... ORPHA:217390
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Erythema, Urticaria ORPHA:703
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Cutis laxa OMIM:614100
Bacterial Toxic-Shock Syndrome
Ecchymosis, Sinusitis, Pneumonia, Tachypnea, Edema, Respiratory distress, Respiratory tract infec... ORPHA:36234
Fryns Macrocephaly
Macrodontia of permanent maxillary central incisor, Short philtrum, Wide mouth, Everted lower lip... OMIM:600302
Trichothiodystrophy 6, Nonphotosensitive
Dry skin, Ichthyosis OMIM:616943
Proteus Syndrome
Hyperkeratosis OMIM:176920
14Q11.2 Microdeletion Syndrome
High palate, Long philtrum, Deep philtrum, Exaggerated cupid's bow, Narrow mouth, Everted lower l... ORPHA:261120
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Petechiae, Striae distensae, Thin skin, Hyperextensible skin, Bruising susceptibility OMIM:225310
Baralle-Macken Syndrome
Acanthosis nigricans, Striae distensae OMIM:619255
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Cutis Laxa-Marfanoid Syndrome
Emphysema, Redundant skin ORPHA:171719
Mitochondrial Complex I Deficiency, Nuclear Type 35
Redundant neck skin, Neonatal respiratory distress, Nonimmune hydrops fetalis, Intrauterine growt... OMIM:619003
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Dehydration, Dysphagia OMIM:618958
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Juvenile Dermatomyositis
Restrictive ventilatory defect, Cutaneous photosensitivity, Pruritus, Erythema, Telangiectasia of... ORPHA:93672
Fibromatosis, Gingival, With Distinctive Facies
Irregular dentition, High palate, Delayed eruption of permanent teeth, Everted lower lip vermilio... OMIM:228560
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Lymphedema, Hyperkeratosis ORPHA:79279
Complex Regional Pain Syndrome
Dry skin, Edema of the upper limbs, Pedal edema, Erythema ORPHA:83452
Hypotrichosis And Recurrent Skin Vesicles
Follicular hyperkeratosis, Skin vesicle OMIM:613102
Restrictive Dermopathy
Epidermal hyperkeratosis, Polyhydramnios, Dermal translucency, Scaling skin, Generalized hyperker... ORPHA:1662
Nicolaides-Baraitser Syndrome
High, narrow palate, Eczema, Smooth philtrum, Wide mouth, Long philtrum, Excessive wrinkled skin,... ORPHA:3051
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Hypodontia, Abnormal number of teeth, Xerostomia, Rhinitis, Ectodermal dysplasia, Conical tooth, ... OMIM:614941
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Idiopathic Bronchiectasis
Wheezing, Productive cough, Abnormal respiratory system physiology, Crackles, Bronchiectasis, Hal... ORPHA:60033
Pemphigus Erythematosus
Malar rash, Acantholysis ORPHA:79480
Cutis Laxa, Autosomal Dominant 1
Progeroid facial appearance, Prematurely aged appearance, Emphysema, Redundant skin OMIM:123700
Arthrogryposis And Ectodermal Dysplasia
Dry skin, Hyperkeratosis OMIM:601701
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Congenital Heart Defects And Ectodermal Dysplasia
Dry skin OMIM:617364
Ramon Syndrome
Hyperkeratosis ORPHA:3019
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Pulmonary situs ambiguus, Neonatal respiratory distress, Bronchiectas... ORPHA:244
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Progeroid facial appearance, Thin skin, Prematurely aged appearance, Lack of skin el... ORPHA:90153
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Spinocerebellar Ataxia Type 34
Dry skin ORPHA:1955
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Delayed eruption of teeth, Abnormality of dental morphology, Ex... ORPHA:2025
Pruritus, Skin ulcer, Skin rash, Recurrent cutaneous abscess formation ORPHA:231
Cofs Syndrome
Cutaneous photosensitivity, Death in infancy, Intrauterine growth retardation, Everted lower lip ... ORPHA:1466
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death, Intrauterine growth retardation, Redundant skin OMIM:301021
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Dry skin ORPHA:248
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, High palate, Neonatal death, Polyhydramnios, Respiratory distress, Atelectasis OMIM:300219
Attenuated Chédiak-Higashi Syndrome
Gingival bleeding, Epistaxis, Recurrent respiratory infections, Skin ulcer, Bruising susceptibility ORPHA:352723
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Erythema, Interstitial pneumonitis, Bronchiolitis OMIM:614878
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Carious teeth, Bruising susceptibility, High palate, Microdontia, Respiratory insufficiency, Long... ORPHA:536467
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin OMIM:614450
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Thin skin, Subcutaneous hemorrhage, Purpura, Pulmonary embolism, Skin ulcer ORPHA:743
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia, Redundant skin OMIM:615721
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Transient Neonatal Diabetes Mellitus
Macroglossia, Intrauterine growth retardation, Dehydration ORPHA:99886
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Dehydration ORPHA:289504
Fibromuscular Dysplasia, Multifocal
Striae distensae, Dermal translucency, Soft, doughy skin, Hyperextensible skin, Soft skin OMIM:619329
Juvenile Hyaline Fibromatosis
Gingival fibromatosis, Death in infancy, Gingival overgrowth, Skin ulcer ORPHA:2028
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Carious teeth, Folliculitis, Palmoplantar keratoderma, Enamel hypoplasia, Facial erythema OMIM:612843
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Eczematoid dermatitis, High palate, Seborrheic dermatitis, Erythema, Redundant skin, Flushing, Pa... OMIM:259100
Maxillonasal Dysplasia
Cleft palate, Microdontia, Open bite, Striae distensae, Tooth agenesis ORPHA:1248
Fixed Drug Eruption
Stomatitis, Erythema, Generalized abnormality of skin, Oral ulcer, Crusting erythematous dermatitis ORPHA:293812
Skin Fragility-Woolly Hair Syndrome
Palmoplantar keratosis with erythema and scale, Acantholysis OMIM:607655
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Hyperparakeratosis ORPHA:276280
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Plantar hyperkeratosis, Palmar hyperkeratosis ORPHA:79397
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Nonspecif... OMIM:610921
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Lymphedema, Long philtrum, Edema, Thickened skin, Erysipelas, Scaling skin, Thick vermilion borde... ORPHA:2526
Respiratory insufficiency, Cutaneous photosensitivity, Lung adenocarcinoma, Pruritus, Edema, Eryt... ORPHA:221
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating corticosterone level, Increased circulating ren... OMIM:610600
Intellectual Developmental Disorder, X-Linked 19
Thick lower lip vermilion, Dental crowding, Everted lower lip vermilion OMIM:300844
Warty Dyskeratoma
Epidermal thickening, Acrokeratosis, Acantholysis ORPHA:69745
Warburg-Cinotti Syndrome
High palate, Dental crowding, Pneumothorax, Erythema, Gingival overgrowth, Thin skin, Follicular ... OMIM:618175
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Dry skin, Acanthosis nigricans OMIM:268020
Toxic Epidermal Necrolysis
Acantholysis, Excessive salivation, Erythema, Cough, Respiratory distress, Abnormal pleura morpho... ORPHA:537
Intellectual Developmental Disorder, Autosomal Dominant 62
Striae distensae OMIM:618793
Laryngoonychocutaneous Syndrome
Skin ulcer, Amelogenesis imperfecta OMIM:245660
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Psoriasiform lesion, Recurrent lower respiratory tract infections, Recurrent upper ... ORPHA:169154
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Skin rash, Recurrent respiratory inf... ORPHA:229717
Oral Erosive Lichen
Dry skin, Erythema, Cheilitis, Oral ulcer ORPHA:31142
Excessive wrinkled skin, Telangiectasia of the skin, Thin skin, Prematurely aged appearance, Skin... ORPHA:2500
Premature skin wrinkling, Eczema, Cutis laxa, Erysipelas ORPHA:228240
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Dry skin OMIM:129490
Cdkl5-Deficiency Disorder
Deep philtrum, Abnormal respiratory system physiology, Everted lower lip vermilion, Thick vermili... ORPHA:505652
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Pulmonary infiltrates, Abnorma... ORPHA:724
Reynolds Syndrome
Respiratory insufficiency, Ascites, Xerostomia, Pruritus, Telangiectasia of the skin, Sclerodacty... ORPHA:779
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Hypernatremic dehydration, Dehydration OMIM:143860
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Hypodontia, Everted upper lip vermilion, Microdontia, Periorbital wrinkles, Abnormality of dental... OMIM:224900
Cardiofaciocutaneous Syndrome
Excessive wrinkled skin, Palmoplantar keratoderma, Ichthyosis, Hyperextensible skin, Hyperkeratos... ORPHA:1340
Pierpont Syndrome
Widely spaced teeth, Smooth philtrum, Long upper lip, Thin vermilion border, Everted lower lip ve... OMIM:602342
Autosomal Dominant Prognathism
Everted lower lip vermilion, Open bite ORPHA:2964
Beta-Mercaptolactate Cysteine Disulfiduria
Dry skin ORPHA:1035
De Barsy Syndrome
Excessive wrinkled skin, Dermal translucency, Cutis laxa ORPHA:2962
Neonatal Inflammatory Skin And Bowel Disease
Psoriasiform dermatitis, Pustule, Chapped lip, Erythema, Generalized abnormality of skin, Recurre... ORPHA:294023
Prolidase Deficiency
Eczema, High palate, Diffuse telangiectasia, Petechiae, Crusting erythematous dermatitis, Recurre... OMIM:170100
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death, Acantholysis OMIM:609638
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Apnea, Facial erythema ORPHA:439218
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Dry skin, Acanthosis nigricans OMIM:262190
Ichthyosis, Congenital, Autosomal Recessive 11
Congenital ichthyosiform erythroderma, Hyperkeratosis OMIM:602400
Dry skin ORPHA:1660
Microcephalic Primordial Dwarfism, Montreal Type
Dry skin ORPHA:2617
Mitral Valve Prolapse 1
High, narrow palate, High palate, Striae distensae OMIM:157700
Sunct Syndrome
Rhinorrhea, Facial edema, Palpebral edema, Facial erythema, Flushing ORPHA:57145
Syndromic Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis ORPHA:281090
Immunodeficiency 23
Eczema, High palate, Allergic rhinitis, Bronchiectasis, Erythema, Vasculitis in the skin, Chronic... OMIM:615816
Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia, Delayed eruption of teeth, Conical tooth, Abnormality of dental morphology, Everted l... ORPHA:2228
Xeroderma Pigmentosum Variant
Dry skin ORPHA:90342
Immunoglobulin A Vasculitis
Pustule, Angioedema, Vascular skin abnormality, Edema, Erythema, Urticaria, Purpura, Skin rash, R... ORPHA:761
Chilblain Lupus 1
Skin ulcer OMIM:610448
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Pruritus, Erythema ORPHA:79099
Thyroid Dyshormonogenesis 1
Dry skin OMIM:274400
Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Pericardial effusion, Thickened skin, Skin rash, Generalized hyperkerato... ORPHA:92
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pneumonia, Bronchiectasis, Psoriasiform lesion, Recurrent pneumonia, Asthma, Chronic lung disease... OMIM:614700
Progeroid Syndrome, Petty Type
Intrauterine growth retardation, Cutis laxa, Reduced subcutaneous adipose tissue, Redundant skin,... ORPHA:2963
Loeys-Dietz Syndrome 4
High, narrow palate, High palate, Pneumothorax, Bifid uvula, Striae distensae, Broad uvula, Hyper... OMIM:614816
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers