Gene Summary

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

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
abnormal outer ear morphology Abca12em1(IMPC)J HOM E18.5 0.00
abnormal skin appearance Abca12em1(IMPC)J HOM E18.5 0.00
abnormal facial morphology Abca12em1(IMPC)J HOM E18.5 0.00
preweaning lethality, complete penetrance Abca12em1(IMPC)J HOM   Early adult 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.

MicroCT E18.5

Embryo reconstruction

8 Images

Electrocardiogram (ECG)

Waveform Image

15 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Gross Morphology Embryo E18.5

Images

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Gross Morphology Placenta E18.5

Images

3 Images

Combined SHIRPA and Dysmorphology

Images

3 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
Hyperkeratosis, Pruritus, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Follicular hyperkeratosi... OMIM:613000
Ulerythema Ophryogenesis
Facial erythema, Hyperkeratotic papule, Miscarriage, Contact dermatitis, Follicular hyperkeratosi... ORPHA:3406
Keratosis, Focal Palmoplantar And Gingival
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... OMIM:148730
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:617574
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus OMIM:618531
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on hand, Facial erythema, Palmoplantar erythema, Striae distensae, Skin vesicle, Pruritu... ORPHA:64745
Porokeratosis Of Mibelli
Porokeratosis, Pruritus, Hyperkeratosis ORPHA:735
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis, Scaling skin, Dry skin, Pruritus, Atopic dermatitis OMIM:618084
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Porokeratosis Plantaris Palmaris Et Disseminata
Porokeratosis, Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis ORPHA:737
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Acquired Ichthyosis
Ichthyosis, Pruritus, Hyperkeratosis, Erythema, Recurrent skin infections, Palmoplantar keratoder... 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
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Hypergranul... OMIM:604117
Congenital Panfollicular Nevus
Hyperkeratosis, Pruritus 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
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroder... OMIM:601952
Bazex Syndrome
Pruritus, Parakeratosis, Edema, Scaling skin, Hyperkeratosis, Acanthosis nigricans, Palmoplantar ... ORPHA:166113
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers, Orthokeratotic hyperkeratosis, Edema, Pa... ORPHA:498359
White Sponge Nevus 2
Edema, Hyperparakeratosis OMIM:615785
Huriez Syndrome
Sclerodactyly, Palmoplantar keratoderma, Dry skin, Lack of skin elasticity ORPHA:384
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Acrokeratosis Verruciformis
Hyperkeratosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis OMIM:101900
Infantile Digital Fibromatosis
Parakeratosis, Hyperkeratosis ORPHA:199267
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
Lamellar Ichthyosis
Lack of skin elasticity, Ichthyosis, Hyperkeratosis, Erythroderma, Dehydration, Pruritus, Dry skin ORPHA:313
Ichthyosis, Congenital, Autosomal Recessive 6
Generalized ichthyosis, Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Paraker... OMIM:612281
Psoriasis 2
Parakeratosis, Scaling skin, Hyperkeratosis, Psoriasiform dermatitis OMIM:602723
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperkeratosis, Scalin... OMIM:617571
Palmoplantar Keratoderma And Congenital Alopecia 2
Sclerodactyly, Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Dry skin OMIM:212360
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Vulvovaginal Gingival Syndrome
Parakeratosis, Pruritus, Erythema ORPHA:83453
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Keratoderma Hereditarium Mutilans With Ichthyosis
Generalized ichthyosis, Orthokeratosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyper... ORPHA:79395
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Ichthyosis, Congenital, Autosomal Recessive 10
Generalized ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperker... OMIM:615024
Pityriasis Rubra Pilaris
Orthokeratosis, Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis OMIM:173200
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Parakeratosis, Erythroderma, Wh... OMIM:604777
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Skin vesicle, Erythema migrans, Palmoplantar hyperkeratosis, Parakeratosis, Pruritus ORPHA:158681
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar scaling skin, Diffu... ORPHA:530838
Classic Mycosis Fungoides
Pruritus, Skin rash, Skin ulcer, Eczema, Edema, Erythema, Hyperkeratosis, Dry skin ORPHA:2584
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Ichthyosis, Pruritus, Parakeratosis, Hyperkeratosis, Erythema, Palmoplantar keratoderma OMIM:615821
Olmsted Syndrome, X-Linked
Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Subungual hyperkeratosis, Palmoplanta... OMIM:300918
Bathing Suit Ichthyosis
Thickened skin, Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform eryt... ORPHA:100976
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Recurrent skin infections ORPHA:79503
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Palmoplantar hyperkeratosis, Erythema, Congenital nonbullous ichthyosiform erythr... OMIM:617526
Erythrokeratodermia Variabilis Et Progressiva 3
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis, Erythema OMIM:617525
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Psoriasiform lesion, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pust... ORPHA:284426
Acral Self-Healing Collodion Baby
Lack of skin elasticity, Edema of the dorsum of hands, Edema of the dorsum of feet, Palmoplantar ... ORPHA:281127
Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis, Dry skin ORPHA:461
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Tylosis With Esophageal Cancer
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Follicular hyperkeratosis OMIM:148500
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Ichthyosis Vulgaris
Eczematoid dermatitis, Ichthyosis, Dry skin OMIM:146700
Hypotrichosis Simplex Of The Scalp
Pruritus, Parakeratosis, Scaling skin, Hyperkeratosis, Atopic dermatitis ORPHA:90368
Olmsted Syndrome 2
Pruritus, Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Perioral hyperkeratosis, Pa... OMIM:619208
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Ichthyosis Hystrix, Curth-Macklin Type
Scaling skin, Palmoplantar keratoderma, Hyperkeratotic papule, Fragile skin OMIM:146590
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Lack of skin elasticity, Palmoplantar keratoderma ORPHA:1366
Autosomal Dominant Epidermolytic Ichthyosis
Ichthyosis, Congenital bullous ichthyosiform erythroderma, Skin ulcer, Hyperkeratosis, Erythroder... ORPHA:312
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis, Dry skin OMIM:617066
Ichthyosis, Congenital, Autosomal Recessive 1
Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Parake... OMIM:242300
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Parakeratosis, Hyperkeratosis OMIM:618339
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ichthyosis, Parakeratosis, Xerostomia, Acanthosis nigricans, Hyperkeratosis, Dry skin OMIM:618527
Erythrokeratodermia Variabilis
Skin rash, Erythema, Hyperkeratosis, Patchy palmoplantar hyperkeratosis, Dry skin ORPHA:317
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Ichthyosis, Dry skin ORPHA:2271
Olmsted Syndrome 1
Pruritus, Orthokeratosis, Parakeratosis, Hyperparakeratosis, Subungual hyperkeratosis, Palmoplant... OMIM:614594
Mal De Meleda
Ichthyosis, Inflammatory abnormality of the skin, Nonepidermolytic palmoplantar hyperkeratosis, S... ORPHA:87503
Dermatitis, Atopic
Facial erythema, Ichthyosis, Eczema, Pallor, Dry skin, Recurrent skin infections, Pruritus, Atopi... OMIM:603165
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer ORPHA:409
Superficial Epidermolytic Ichthyosis
Ichthyosis, Edema, Erythema, Acantholysis, Palmoplantar keratoderma ORPHA:455
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Chilblain Lupus
Pruritis on hand, Malar rash, Inflammatory abnormality of the skin, Discoid lupus rash, Skin rash... ORPHA:90280
Atrophoderma Vermiculata
Pruritus, Hyperkeratotic papule, Follicular hyperkeratosis, Erythema ORPHA:79100
Peeling Skin Syndrome 5
Scaling skin, Hyperkeratosis OMIM:617115
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Chronic furunculosis, Acne inversa, Recurrent cutaneous abscess formation, Foll... OMIM:613736
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Cutis laxa, Crusting erythematous dermatitis ORPHA:79148
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin ORPHA:2812
Amyloidosis, Primary Localized Cutaneous, 3
Pruritus, Dry skin OMIM:617920
Ichthyosis, Annular Epidermolytic, 1
Congenital bullous ichthyosiform erythroderma, Ichthyosis, Palmoplantar hyperkeratosis, Erythema OMIM:607602
Psoriasis 14, Pustular
Parakeratosis, Pustule, Psoriasiform dermatitis, Erythema OMIM:614204
Cutaneous Mastocytoma
Telangiectasia macularis eruptiva perstans, Angioedema, Darier's sign, Peau d'orange, Thickened s... ORPHA:79455
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Scaling skin, Erythema, Hyperkerato... OMIM:614457
Anonychia With Flexural Pigmentation
Hyperkeratosis, Follicular hyperkeratosis ORPHA:69125
Non-Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Pruritus, Skin ulcer, Erythema ORPHA:2337
Sjögren-Larsson Syndrome
Hyperkeratosis, Ichthyosis, Dry skin, Erythema ORPHA:816
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis, Hypergranulosis ORPHA:79151
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Scaling skin, Sclerode... ORPHA:90158
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythemat... ORPHA:79147
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma, Hypergranulosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis OMIM:133200
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Pruritus, Scaling skin, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis, Folli... OMIM:616295
Netherton Syndrome
Hypernatremic dehydration, Congenital nonbullous ichthyosiform erythroderma, Parakeratosis, Eryth... OMIM:256500
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Dermal translucency, Lymphedema, Nonimmune hydrops fetalis, Epidermal hyperkeratosis, Palpebral e... OMIM:137940
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin OMIM:308800
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Ichthyosis, Orthokeratosis, Parakeratosis, Pruritus, Dry skin OMIM:607626
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hyperkeratosis, Pruritus, Palmoplantar hyperkeratosis ORPHA:89838
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hyperkeratosis, Palmar hyperkeratosis, Pruritus, Plantar hyperkeratosis ORPHA:79399
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Palmoplantar keratoderma, Dry skin, Pruritus, Eczema OMIM:618535
Hypotrichosis 6
Pruritus, Follicular hyperkeratosis, Erythema OMIM:607903
Acral Peeling Skin Syndrome
Ichthyosis, Eczema, Scaling skin, Excessive wrinkling of palmar skin, Erythema ORPHA:263534
Lichen Planus Pemphigoides
Hyperkeratosis, Pruritus, Skin vesicle ORPHA:254478
Trichothiodystrophy 7, Nonphotosensitive
Ichthyosis, Follicular hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:618546
Ichthyosis, Congenital, Autosomal Recessive 8
Ichthyosis, Orthokeratosis, Erythema, Hyperkeratosis, Hypergranulosis OMIM:613943
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized ichthyosis, Cutis laxa, Eclabion, Scaling skin, Generalized hyperkeratosis, Epidermal... ORPHA:2269
Familial Benign Chronic Pemphigus
Acantholysis, Hyperkeratosis, Skin vesicle, Erythema ORPHA:2841
Congenital Lethal Erythroderma
Ichthyosis, Dry skin, Congenital exfoliative erythroderma, Death in infancy ORPHA:1954
Progressive Symmetric Erythrokeratodermia
Palmoplantar keratoderma, Erythema ORPHA:316
Congenital Disorder Of Glycosylation, Type Iq
Ichthyosis, Cutis laxa, Eczema, Hyperkeratosis, Dry skin OMIM:612379
Asbestos Intoxication
Cyanosis, Oxygen desaturation on exertion, Pleural thickening, Decreased DLCO, Diffuse reticular ... ORPHA:2302
Netherton Syndrome
Ichthyosis, Asthma, Skin rash, Eczema, Emphysema, Acanthosis nigricans, Congenital nonbullous ich... ORPHA:634
Antisynthetase Syndrome
Lack of skin elasticity, Respiratory insufficiency, Abnormal pulmonary interstitial morphology, P... ORPHA:81
Congenital Disorder Of Glycosylation, Type If
Death in infancy, Scaling skin, Erythroderma, Hyperkeratosis, Dry skin OMIM:609180
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Pruritus, Respiratory distress, Swollen lip, Upper airway obstruction, Palpebral edema, Erythema,... ORPHA:100057
Harlequin Ichthyosis
Ichthyosis, Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma ORPHA:457
Epidermolytic Hyperkeratosis
Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Erythro... OMIM:113800
Peeling Skin Syndrome 4
Ichthyosis, Orthokeratosis, Scaling skin, Hyperkeratosis, Palmoplantar keratoderma OMIM:607936
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Abnormal elasticity of skin, Follicular hyperkeratosis, Dry skin ORPHA:486815
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Focal Palmoplantar And Gingival Keratoderma
Gingival hyperkeratosis, Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperke... ORPHA:2200
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
Epidermolytic Palmoplantar Keratoderma
Palmoplantar hyperkeratosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palma... ORPHA:2199
Sézary Syndrome
Pruritus, Edema, Erythroderma, Palmoplantar keratoderma, Dry skin ORPHA:3162
Costello Syndrome
Lack of skin elasticity, Polyhydramnios, Redundant skin, Acanthosis nigricans, Hyperkeratosis ORPHA:3071
Acute Interstitial Pneumonia
Cyanosis, Bronchiectasis, Pericardial effusion, Pleural effusion, Crackles, Peripheral edema, Dec... ORPHA:79126
Pemphigus Foliaceus
Skin vesicle, Oral ulcer, Pruritus, Crusting erythematous dermatitis, Scaling skin, Pustule, Abno... ORPHA:79481
Chromomycosis
Hyperkeratotic papule, Pruritus, Lymphedema, Predominantly lower limb lymphedema, Edema, Hyperpar... ORPHA:182
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Thickened skin, Abnormality of the tongue, Hypodontia, Skin ulcer, Abnormal oral mucosa morpholog... ORPHA:659
Lymphatic Malformation 4
Pedal edema, Hyperkeratosis, Lymphedema OMIM:615907
Erythrokeratodermia Variabilis Et Progressiva 2
Palmoplantar keratoderma, Erythema OMIM:617524
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Lack of skin elasticity, Palmoplantar keratoderma, Thickened skin ORPHA:1979
Pili Torti-Onychodysplasia Syndrome
Palmoplantar keratoderma, Dry skin, Generalized keratosis follicularis, Eczema ORPHA:2890
Sydenham Chorea
Movement abnormality of the tongue, Recurrent streptococcus pneumoniae infections, Erythema ORPHA:306731
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Edema, Erythema, Urticaria OMIM:154800
Ciliary Dyskinesia, Primary, 21
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... OMIM:615294
Bronchopulmonary Dysplasia
Central apnea, Hyperoxemia, Pulmonary sequestration, Tracheobronchomalacia, Abnormal respiratory ... ORPHA:70589
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Blepharochalasis, Hyperextensible skin, Gingival hyperkeratosis, Dermal translucency, Redundant s... OMIM:225410
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... OMIM:615872
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Congenital Disorder Of Glycosylation, Type Im
Ichthyosis, Inflammatory abnormality of the skin, Death in infancy, Hyperkeratosis, Dry skin OMIM:610768
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Respiratory distress, Edema, Dyspnea, Neonatal respiratory distress, Atelectasis... OMIM:267450
Cutaneous Small Vessel Vasculitis
Abnormal oral cavity morphology, Skin rash, Purpura, Cutis marmorata, Erythema, Recurrent skin in... ORPHA:889
Palmoplantar Keratoderma, Epidermolytic
Palmar hyperkeratosis, Palmoplantar hyperkeratosis, Plantar hyperkeratosis, Localized epidermolyt... OMIM:144200
Immunodeficiency 58
Cold urticaria, Cutaneous photosensitivity, Recurrent aphthous stomatitis, Chronic bronchitis, Ic... OMIM:618131
Irida Syndrome
Hyperkeratosis, Ichthyosis, Pallor ORPHA:209981
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Chronic sinusitis, Atelectasis OMIM:300455
Darier Disease
Skin vesicle, Thickened skin, Pruritus, Acrokeratosis, Palmoplantar keratoderma, Subungual hyperk... ORPHA:218
Familial Cold Autoinflammatory Syndrome 3
Pruritus, Dermatographic urticaria, Allergic rhinitis, Asthma, Recurrent sinopulmonary infections... OMIM:614468
Autosomal Dominant Hyper-Ige Syndrome
Gingivitis, Skin vesicle, Delayed eruption of teeth, Skin rash, Skin ulcer, Eczema, Cough, Cleft ... ORPHA:2314
Lichen Planopilaris
Hyperkeratosis, Skin ulcer, Pruritus ORPHA:525
Jessner Lymphocytic Infiltration Of The Skin
Cutaneous photosensitivity, Pruritus, Erythema ORPHA:33314
Reticular Dysgenesis
Skin rash, Skin ulcer, Recurrent respiratory infections, Dehydration ORPHA:33355
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Skin rash, Cutaneous abscess, Recurrent sinopulmonary infections, Chronic mucocutane... OMIM:147060
Idiopathic Chronic Eosinophilic Pneumonia
Parenchymal consolidation, Abnormal pulmonary thoracic imaging finding, Asthma, Wheezing, Hypoxem... ORPHA:2902
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent pneumonia, Cough, Recurrent low... OMIM:616726
Palmoplantar Keratoderma, Punctate Type Ia
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis OMIM:148600
Primary Erythromelalgia
Pruritus, Recurrent respiratory infections, Erythema ORPHA:90026
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin ORPHA:1028
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis OMIM:615225
Neonatal Lupus Erythematosus
Malar rash, Skin rash, Parakeratosis, Hyperkeratosis, Maculopapular exanthema ORPHA:398124
Vibratory Urticaria
Facial erythema, Urticaria, Flushing OMIM:125630
Iga Pemphigus
Skin vesicle, Neutrophilic infiltration of the skin, Cutaneous abscess, Pustule, Acantholysis, Pr... ORPHA:555905
Chronic Mucocutaneous Candidiasis
Skin rash, Abnormal lip morphology, Skin ulcer, Cough, Hyperkeratosis, Erythema, Pruritus, Recurr... ORPHA:1334
Leopard Syndrome 3
Hyperkeratosis, Dry skin, Epidermal hyperkeratosis OMIM:613707
Dermatofibrosarcoma Protuberans
Thickened skin, Skin ulcer, Erythema ORPHA:31112
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Diffuse Cutaneous Mastocytosis
Darier's sign, Thickened skin, Peau d'orange, Dermatographic urticaria, Flushing, Scaling skin, G... ORPHA:79456
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Bronchiectasis, Respiratory insufficiency due to defective cili... OMIM:615067
Prolidase Deficiency
Thin skin, Cutaneous photosensitivity, Crusting erythematous dermatitis, Skin ulcer, Palmoplantar... ORPHA:742
Lymphatic Malformation 12
Polyhydramnios, Lymphedema, Nonimmune hydrops fetalis, Fetal ascites, Death in adolescence, Hyper... OMIM:620014
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema, Stomatitis, Emphysema OMIM:618307
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Erythema, Death in infancy OMIM:219095
Ichthyosis With Confetti
Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Scalin... OMIM:609165
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Ichthyosis, Perioral erythema OMIM:248300
Ichthyosis, Hystrix-Like, With Deafness
Ichthyosis, Cobblestone-like hyperkeratosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderm... OMIM:602540
Werner Syndrome
Lack of skin elasticity, Premature graying of hair, Prematurely aged appearance, Skin ulcer, Subc... ORPHA:902
Meige Disease
Pedal edema, Recurrent bacterial skin infections, Recurrent skin infections, Lymphedema, Edema of... ORPHA:90186
Erythema Of Acral Regions
Erythema, Abnormality of the dentition OMIM:227000
Skin Fragility-Woolly Hair Syndrome
Acantholysis, Palmoplantar erythema, Palmoplantar scaling skin, Palmoplantar hyperkeratosis OMIM:607655
Ichthyosis, Congenital, Autosomal Recessive 3
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplan... OMIM:606545
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin OMIM:247100
Pityriasis Rubra Pilaris
Thickened skin, Ichthyosis, Pruritus, Eczema, Pustule, Subungual hyperkeratosis, Erythroderma, Pa... ORPHA:2897
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Erythema, Inflammatory abnormality of the skin ORPHA:90160
Erosive Pustular Dermatosis Of The Scalp
Pustule, Erythema ORPHA:222
Quinquaud Folliculitis Decalvans
Pustule, Erythema, Recurrent skin infections ORPHA:346
Maculopapular Cutaneous Mastocytosis
Darier's sign, Dermatographic urticaria, Flushing, Dyspnea, Erythema, Pruritus, Generalized abnor... ORPHA:79457
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Pustule, Recurrent pneumonia, Dehydration, Epidermal acanthosis, Recurrent bronch... OMIM:616069
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Vasculitis in the skin, Erythema, Inflammatory abnormality o... ORPHA:90159
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Pruritus ORPHA:89843
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Phenylketonuria
Scleroderma, Dry skin, Eczema OMIM:261600
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Pruritus, Plantar hyperkeratosis OMIM:616487
Cole Disease
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, H... OMIM:615522
Lupus Erythematosus Tumidus
Scaling skin, Deep dermal perivascular inflammatory infiltrate, Cutaneous photosensitivity ORPHA:90283
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Hyperkeratosis, H... OMIM:615023
Angioma Serpiginosum
Vascular skin abnormality, Erythema ORPHA:95429
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Hyperextensible skin, Dermal translucency OMIM:619120
Polyarteritis Nodosa
Pleuritis, Skin ulcer, Cutis marmorata, Erythema, Abnormal lung morphology ORPHA:767
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Petechiae, Skin rash, Bruising susceptibility, Erythema, Vas... ORPHA:280779
Ichthyosis, Congenital, Autosomal Recessive 2
Congenital nonbullous ichthyosiform erythroderma, Everted lower lip vermilion, Hyperkeratosis, Er... OMIM:242100
Rare Cutaneous Lupus Erythematosus
Crusting erythematous dermatitis, Scaling skin, Superficial dermal perivascular inflammatory infi... ORPHA:535
Macs Syndrome
Irregular dentition, Hyperextensible skin, Ichthyosis, Recurrent aphthous stomatitis, Bronchiecta... OMIM:613075
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent skin infections, Orthokeratosis, Psoriasiform dermatitis, Erythroderma, Acantholysis, P... OMIM:615508
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Abnormal pulmonary thoracic ... ORPHA:70588
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Pruritus, Dry skin OMIM:105250
Ichthyosis Prematurity Syndrome
Polyhydramnios, Generalized ichthyosis, Erythroderma, Pruritus, Follicular hyperkeratosis OMIM:608649
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Streaks of hyperkeratosis along each ... OMIM:148700
Transgrediens Et Progrediens Palmoplantar Keratoderma
Facial erythema, Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Thic... ORPHA:495
Aicardi-Goutieres Syndrome 5
Scaling skin, Chilblains, Dry skin OMIM:612952
Orthostatic Hypotensive Disorder, Streeten Type
Facial erythema, Bruising susceptibility OMIM:143850
Stiff Skin Syndrome
Lack of skin elasticity, Thickened skin ORPHA:2833
Leri Pleonosteosis
Lack of skin elasticity, Thickened skin ORPHA:2900
Dowling-Degos Disease
Skin vesicle, Hyperkeratotic papule, Pruritus, Acne inversa, Hyperkeratosis ORPHA:79145
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Thin skin, Cutaneous photosensitivity, Telangiectasia, Crusting erythematous dermatitis, Palmopla... ORPHA:158673
Porokeratosis
Hyperkeratosis, Pruritus ORPHA:79358
Infant Acute Respiratory Distress Syndrome
Cyanosis, Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory fai... ORPHA:70587
Moynahan Syndrome
Hyperkeratosis ORPHA:2574
Dowling-Degos Disease 4
Pruritus, Epidermal acanthosis, Hypergranulosis OMIM:615696
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, R... ORPHA:60032
Cutis Laxa, Autosomal Recessive, Type Iib
Lack of skin elasticity, High palate, Long philtrum, Bruising susceptibility, Prominent superfici... OMIM:612940
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Glutamine Deficiency, Congenital
Recurrent respiratory infections, Apnea, Erythema, Neonatal respiratory distress, Thin vermilion ... OMIM:610015
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar keratoderma, Epidermal hyperkeratosis, Plantar hyperkeratosis, Palmoplantar erythema OMIM:104100
Grubben-De Cock-Borghgraef Syndrome
Dry skin, Eczema ORPHA:2101
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Darier-White Disease
Acantholysis, Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments OMIM:124200
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid neutrophil proportion, Parenchymal c... OMIM:610978
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Skin ulcer, Recurrent bronchitis, Nasal polyposis, Chronic sinusitis, Emphysema, ... OMIM:604571
Myotubular Myopathy With Abnormal Genital Development
Polyhydramnios, High palate, Death in infancy, Respiratory distress, Neonatal death, Atelectasis OMIM:300219
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Neu-Laxova Syndrome
Lack of skin elasticity, Polyhydramnios, Abnormality of the philtrum, Ichthyosis, Bifid uvula, Su... ORPHA:2671
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Recurrent upper respir... ORPHA:922
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Ichthyosis, Everted upper lip vermilion, Petechiae, Purpura, Nonimmune hydrops fe... OMIM:608013
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Familial Cold Urticaria
Pruritus, Urticaria, Erythema, Dehydration ORPHA:47045
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Hyperextensible skin, Dermal translucency OMIM:619115
Classic Phenylketonuria
Lack of skin elasticity, Eczema ORPHA:79254
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin OMIM:218650
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Follicular hyperkeratosis OMIM:615147
Chronic Hiccup
Abnormal eating behavior, Dehydration ORPHA:396
Autoinflammation With Arthritis And Dyskeratosis
Dry skin, Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617388
Ectodermal Dysplasia-Skin Fragility Syndrome
Abnormality of dental morphology, Scaling skin, Recurrent pneumonia, Palmoplantar keratoderma, Fr... ORPHA:158668
Uv-Sensitive Syndrome 3
Dry skin OMIM:614640
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Ectodermal dysplasia, Palmoplantar hyperkeratosis, Fragile skin OMIM:604536
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Congenital Disorder Of Glycosylation, Type Iil
Hyperkeratosis, Peau d'orange, Dry skin, Death in infancy OMIM:614576
Keratolytic Winter Erythema
Erythema OMIM:148370
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Dermal translucency ORPHA:529965
Noonan Syndrome 8
Polyhydramnios, Hyperextensible skin, Palmoplantar cutis laxa, Eczema, Pleural effusion, Hyperker... OMIM:615355
Pierpont Syndrome
Widely spaced teeth, Abnormal subcutaneous fat tissue distribution, Everted lower lip vermilion, ... ORPHA:487825
Pemphigus Vulgaris
Acantholysis, Recurrent cutaneous abscess formation ORPHA:704
Ataxia-Photosensitivity-Short Stature Syndrome
Dry skin ORPHA:1184
Pilarowski-Bjornsson Syndrome
Dermal translucency OMIM:617682
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Ichthyosis, Hypergranulosis, Erythroderma OMIM:615022
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Skin ulcer, Fragile skin, Erythema, Telangiectasia of the skin ORPHA:542592
Dermoodontodysplasia
Dry skin OMIM:125640
Uv-Sensitive Syndrome 1
Dry skin OMIM:600630
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Elevated circulating acylcarnitine concentration, Dehydration ORPHA:79159
Keratoderma Hereditarium Mutilans
Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis ORPHA:494
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Ectodermal Dysplasia-Syndactyly Syndrome 2
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Follicular hyperkeratosis OMIM:613576
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Scaling skin, Lack of ... ORPHA:90156
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Soft, doughy skin, Hyperextensible skin, Dermal translucency, Oligohydramnios ORPHA:541423
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Orthokeratosis, Parakeratosis, Stillbirth, Erythema, Hyperkeratosis, Congenital ichthyosiform ery... OMIM:308050
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Pulmonary infiltrates, Chronic oral candidiasis, Eczema, Scaling skin, Erythroderma, Psoriasiform... OMIM:606367
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Erythema ORPHA:36237
Tracheobronchopathia Osteochondroplastica
Bronchitis, Respiratory insufficiency, Recurrent respiratory infections, Productive cough, Exerti... ORPHA:3348
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis, Tented upper lip vermilion, Atelectasis ORPHA:896
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis ORPHA:38
Odontoonychodermal Dysplasia
Palmoplantar erythema, Hypergranulosis, Orthokeratosis, Hypodontia, Widely spaced primary teeth, ... OMIM:257980
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Hyperextensible skin, Follicular hyperkeratosis ORPHA:300179
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Scaling skin, Palmoplantar keratoderma, Dry skin OMIM:618373
Lipoid Proteinosis
Thickened skin, High palate, Tongue nodules, Thick lower lip vermilion, Nasal polyposis, Pustule,... ORPHA:530
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
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
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis OMIM:618625
Pseudoxanthoma Elasticum
Lack of skin elasticity, Striae distensae, Hyperextensible skin, High palate, Skin rash, Bruising... ORPHA:758
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lack of skin elasticity, Dental crowding, Narrow mouth, Telangiectasia of the skin OMIM:615381
X-Linked Dominant Chondrodysplasia Punctata
High palate, Ichthyosis, Scaling skin, Abnormal lung morphology, Erythroderma ORPHA:35173
Flynn-Aird Syndrome
Hyperkeratosis OMIM:136300
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Pulmonary fibrosis, Exertional dyspnea, Atelectasis ORPHA:254361
Dermatitis Herpetiformis
Skin vesicle, Eczema, Edema, Erythema, Pruritus, Urticaria ORPHA:1656
Bronchogenic Cyst
Abnormal pleura morphology, Abnormal pulmonary thoracic imaging finding, Pneumonia, Dyspnea, Coug... ORPHA:2357
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine growth retardation, Dehydration OMIM:601410
Milroy Disease
Pedal edema, Lymphedema, Predominantly lower limb lymphedema, Erysipelas, Hyperkeratosis ORPHA:79452
Peeling Skin Syndrome 1
Asthma, Scaling skin, Pruritus, Erythroderma OMIM:270300
Autosomal Erythropoietic Protoporphyria
Cutaneous photosensitivity, Eczema, Edema, Erythema, Pruritus ORPHA:79278
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Cutis Laxa, Autosomal Recessive, Type Ic
Long philtrum, Cutis laxa, Death in infancy, Pulmonary hypoplasia, Emphysema, Redundant skin, Rec... OMIM:613177
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Kid Syndrome
Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Gingivitis, Angular c... ORPHA:477
Hereditary Acrokeratotic Poikiloderma
Thin skin, Gingivitis, Ichthyosis, Abnormal pigmentation of the oral mucosa, Premature loss of pr... ORPHA:2907
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Death in infancy, Dehydration OMIM:251850
Mpdu1-Cdg
Scaling skin, Ichthyosis, Eczema, Thin vermilion border ORPHA:79323
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Everted lower lip vermilion, Palmoplantar keratoderma, Abnormality of dental morphology, Urticaria ORPHA:2251
Adult-Onset Still Disease
Pleuritis, Skin rash, Recurrent pharyngitis, Restrictive ventilatory defect, Joint swelling, Eryt... ORPHA:829
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Chronic oral candidiasis, Cutaneous abscess, Eczema, Chronic mucocutaneous candidiasis, Dry skin,... OMIM:618282
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Hyperextensible skin, Soft skin, Cutis laxa, Dermal translucency OMIM:615349
Tempi Syndrome
Facial erythema, Telangiectasia, Hypoxemia, Transudative pleural effusion, Ascites, Abnormality o... ORPHA:284227
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Skin ulcer, Penetrating foot ulcers ORPHA:36386
Mycosis Fungoides
Psoriasiform dermatitis, Pruritus, Eczema, Erythema OMIM:254400
Cerebrooculofacioskeletal Syndrome 1
Long philtrum, Delayed eruption of teeth, Recurrent pneumonia, Dehydration, Carious teeth, Thin v... OMIM:214150
Ehlers-Danlos Syndrome, Classic Type, 2
Hyperextensible skin, Recurrent sinusitis, Bruising susceptibility, Fragile skin, Soft, doughy sk... OMIM:130010
8Q22.1 Microdeletion Syndrome
Lack of skin elasticity, Submucous cleft hard palate, Long philtrum, Abnormality of the dentition ORPHA:178303
Naegeli-Franceschetti-Jadassohn Syndrome
Dry skin, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Subungual hyperkerat... ORPHA:69087
Sting-Associated Vasculopathy, Infantile-Onset
Malar rash, Telangiectasia, Skin rash, Cutis marmorata, Livedo reticularis, Pustule, Pustular ras... OMIM:615934
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Dry skin, Acanthosis nigricans ORPHA:3085
Drug Reaction With Eosinophilia And Systemic Symptoms
Pulmonary infiltrates, Interstitial pneumonitis, Skin rash, Pustule, Dyspnea, Cough, Erythema, Er... ORPHA:139402
Omenn Syndrome
Thickened skin, Edema, Erythroderma, Pruritus, Dry skin ORPHA:39041
Fountain Syndrome
Hyperextensible skin, Wide mouth, Thick lower lip vermilion, Cutis marmorata, Everted lower lip v... ORPHA:3219
Ehlers-Danlos Syndrome, Hypermobility Type
Soft skin, Striae distensae, Hyperextensible skin OMIM:130020
Trichothiodystrophy 1, Photosensitive
Death in infancy, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Hyperkeratosis,... OMIM:601675
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Graft Versus Host Disease
Pulmonary infiltrates, Oral ulcer, Inflammatory abnormality of the skin, Jaundice, Stomatitis, Sc... ORPHA:39812
Protoporphyria, Erythropoietic, 1
Edema, Pruritus, Eczema, Erythema OMIM:177000
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Mucosal telangiectasiae, Skin ulcer, Telangiectasia of the skin,... ORPHA:220402
Riddle Syndrome
Bronchitis, Abnormal pulmonary interstitial morphology, Telangiectasia, Recurrent sinusitis, Chro... ORPHA:420741
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Everted lower lip vermilion, Thin vermilion border, Intrauterine growth retardation, Smooth philtrum ORPHA:73273
Cleft Palate-Lateral Synechia Syndrome
Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth ORPHA:2016
Riddle Syndrome
Dry skin OMIM:611943
Trichothiodystrophy 6, Nonphotosensitive
Ichthyosis, Dry skin OMIM:616943
Cutis Laxa, Autosomal Recessive, Type Iiib
Dermal translucency, Cutis laxa, Excessive wrinkled skin OMIM:614438
Autosomal Recessive Cutis Laxa Type 1
Lack of skin elasticity, Respiratory insufficiency, Pneumothorax, Cutis laxa, Emphysema, Redundan... ORPHA:90349
Combined Malonic And Methylmalonic Acidemia
Dystonia, Dicarboxylic acidemia, Methylmalonic acidemia, Dehydration ORPHA:289504
Snakebite Envenomation
Respiratory paralysis, Ecchymosis, Epistaxis, Edema, Gingival bleeding, Erythema, Respiratory fai... ORPHA:449285
Kanzaki Disease
Hyperkeratosis, Dry skin, Petechiae, Lymphedema OMIM:609242
Man1B1-Cdg
Cutis laxa, Eclabion, Short philtrum, Thin upper lip vermilion, Smooth philtrum, Thick vermilion ... ORPHA:397941
Rhizomelic Chondrodysplasia Punctata
Ichthyosis, Dry skin ORPHA:177
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Asthma, Skin ulcer, Recurr... ORPHA:217390
Hennekam-Beemer Syndrome
Respiratory insufficiency, Skin vesicle, Thickened skin, High palate, Thick lower lip vermilion, ... ORPHA:2135
Nicolaides-Baraitser Syndrome
Long philtrum, Wide mouth, Eczema, Everted lower lip vermilion, Smooth philtrum, Thin vermilion b... ORPHA:3051
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory insufficiency, Thin skin, Dentinogenesis imperfecta, Hyperextensible skin, High palat... ORPHA:536467
Autosomal Agammaglobulinemia
High palate, Bronchiectasis, Skin rash, Sinusitis, Cough, Dehydration, Recurrent skin infections,... ORPHA:33110
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Erythema, Urticaria ORPHA:703
Renal Hypodysplasia/Aplasia 2
Redundant skin, Pulmonary hypoplasia OMIM:615721
14Q11.2 Microdeletion Syndrome
High palate, Long philtrum, Deep philtrum, Everted lower lip vermilion, Narrow mouth, Exaggerated... ORPHA:261120
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess OMIM:619986
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Palmoplantar keratoderma, Hyperkeratotic papule, Palmoplantar hyperkeratosis ORPHA:2698
Bone Marrow Failure Syndrome 4
Dry skin, Eczema OMIM:618116
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Rheumatic Fever
Respiratory insufficiency, Abnormal pleura morphology, Recurrent pharyngitis, Pallor, Epistaxis, ... ORPHA:3099
Proteus Syndrome
Hyperkeratosis OMIM:176920
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Thin skin, Striae distensae, Hyperextensible skin, Petechiae, Bruising susceptibility OMIM:225310
Lujo Hemorrhagic Fever
Cerebral edema, Rhinitis, Skin rash, Facial edema, Purpura, Respiratory distress, Ecchymosis, Cra... ORPHA:319213
Baralle-Macken Syndrome
Striae distensae, Acanthosis nigricans OMIM:619255
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Cleft lip, Recurrent vir... OMIM:616898
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Pulmonary hypoplasia, Redundant neck ... OMIM:619003
Pemphigus Erythematosus
Acantholysis, Malar rash ORPHA:79480
Primary Ciliary Dyskinesia
Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Peribronchova... ORPHA:244
Combined Oxidative Phosphorylation Deficiency 47
Dysphagia, Intrauterine growth retardation, Dehydration OMIM:618958
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Bacterial Toxic-Shock Syndrome
Respiratory tract infection, Skin rash, Respiratory distress, Ecchymosis, Scaling skin, Edema, Si... ORPHA:36234
Complex Regional Pain Syndrome
Pedal edema, Edema of the upper limbs, Dry skin, Erythema ORPHA:83452
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Lymphedema ORPHA:79279
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Cutis laxa, Emphysema OMIM:614100
Juvenile Dermatomyositis
Cutaneous photosensitivity, Mucosal telangiectasiae, Skin rash, Telangiectasia of the skin, Skin ... ORPHA:93672
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Follicular hyperkeratosis OMIM:613102
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lack of skin elasticity, Thin skin, High palate, Progeroid facial appearance, Prematurely aged ap... ORPHA:90153
Restrictive Dermopathy 1
Polyhydramnios, Thin skin, Prominent superficial blood vessels, Natal tooth, Submucous cleft hard... OMIM:275210
Chand Syndrome
Bifid tongue, Commissural lip pit, Abnormal oral frenulum morphology, Agenesis of permanent teeth... ORPHA:1401
Cofs Syndrome
Everted lower lip vermilion, Cutaneous photosensitivity, Intrauterine growth retardation, Death i... ORPHA:1466
Dracunculiasis
Skin rash, Pruritus, Skin ulcer, Recurrent cutaneous abscess formation ORPHA:231
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Delayed eruption of teeth, Abnormality of dental morphology, Gingival fibromatosis, ... ORPHA:2025
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Bronchiolitis, Recurrent sinopulmonary infections, Erythema OMIM:614878
Ichthyosis, Congenital, Autosomal Recessive 11
Hyperkeratosis, Pruritus, Congenital ichthyosiform erythroderma OMIM:602400
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Spinocerebellar Ataxia Type 34
Dry skin ORPHA:1955
Ramon Syndrome
Hyperkeratosis ORPHA:3019
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Chilblain Lupus 1
Chilblains, Skin ulcer OMIM:610448
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Dry skin OMIM:600906
Fixed Drug Eruption
Oral ulcer, Crusting erythematous dermatitis, Stomatitis, Erythema, Generalized abnormality of skin ORPHA:293812
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Dry skin ORPHA:248
Attenuated Chédiak-Higashi Syndrome
Skin ulcer, Bruising susceptibility, Epistaxis, Gingival bleeding, Recurrent respiratory infections ORPHA:352723
Cutis Laxa-Marfanoid Syndrome
Redundant skin, Emphysema ORPHA:171719
Arthrogryposis And Ectodermal Dysplasia
Hyperkeratosis, Dry skin OMIM:601701
Cdkl5-Deficiency Disorder
Everted lower lip vermilion, Abnormal respiratory system physiology, Deep philtrum, Thick vermili... ORPHA:505652
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin OMIM:614450
Juvenile Hyaline Fibromatosis
Gingival fibromatosis, Skin ulcer, Gingival overgrowth, Death in infancy ORPHA:2028
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
High palate, Palmoplantar hyperkeratosis, Flushing, Redundant skin, Erythema, Eczematoid dermatit... OMIM:259100
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Plantar hyperkeratosis, Palmar hyperkeratosis ORPHA:79397
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Thickened skin, Long philtrum, Lymphedema, Skin ulcer, Erysipelas, Pleural effusion, Scaling skin... ORPHA:2526
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Oral ulcer, Psoriasiform lesion, Recurrent upper respiratory tract infections, Erythroderma, Recu... ORPHA:169154
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Dry skin, Acanthosis nigricans OMIM:268020
Transient Neonatal Diabetes Mellitus
Macroglossia, Intrauterine growth retardation, Dehydration ORPHA:99886
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Facial erythema, Enamel hypoplasia, Folliculitis, Carious teeth, Palmoplantar keratoderma OMIM:612843
Cardiofaciocutaneous Syndrome
Hyperextensible skin, Ichthyosis, Lymphedema, Redundant skin, Hyperkeratosis, Palmoplantar kerato... ORPHA:1340
Restrictive Dermopathy
Polyhydramnios, Dermal translucency, Epidermal hyperkeratosis, Scaling skin, Generalized hyperker... ORPHA:1662
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Increased circulating renin level, Increased circulating 18-hydroxycortisone level,... OMIM:610600
Warburg-Cinotti Syndrome
Thin skin, Pneumothorax, High palate, Gingival overgrowth, Joint swelling, Erythema, Dental crowd... OMIM:618175
Acrogeria
Thin skin, Skin ulcer, Telangiectasia of the skin, Prematurely aged appearance, Excessive wrinkle... ORPHA:2500
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Dry skin OMIM:129490
Elastoderma
Premature skin wrinkling, Eczema, Cutis laxa, Erysipelas ORPHA:228240
Isolated Agammaglobulinemia
Recurrent respiratory infections, Skin rash, Skin ulcer, Recurrent cutaneous abscess formation, S... ORPHA:229717
Intellectual Developmental Disorder, X-Linked 19
Thick lower lip vermilion, Everted lower lip vermilion, Dental crowding OMIM:300844
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Conical tooth, Everted upper lip vermilion, Microdontia, Hypodontia, Oligodontia, Anodontia, Ever... OMIM:224900
Warty Dyskeratoma
Acantholysis, Acrokeratosis, Epidermal thickening ORPHA:69745
Intellectual Developmental Disorder, Autosomal Dominant 62
Striae distensae OMIM:618793
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Perianal erythema, Neonatal death, Ectodermal dysplasia, Hydromyelia, Death in infancy, Ichthyosi... OMIM:308205
Ciliary Dyskinesia, Primary, 1
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Nasal polyposis, Chronic sinusitis, Chronic... OMIM:244400
Free Sialic Acid Storage Disease
Ascites, Skin ulcer, Recurrent respiratory infections, Hydrops fetalis ORPHA:834
Short-Rib Thoracic Dysplasia 12
Respiratory insufficiency, Polyhydramnios, Lobulated tongue, Natal tooth, Pulmonary hypoplasia, M... OMIM:269860
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis, Neonatal death OMIM:609638
Maxillonasal Dysplasia
Striae distensae, Microdontia, Tooth agenesis, Cleft palate, Open bite ORPHA:1248
Immunodeficiency, Common Variable, 12, With Autoimmunity
Pyoderma gangrenosum, Bronchiectasis, Recurrent sinusitis, Recurrent sinopulmonary infections, Ch... OMIM:616576
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Hyperparakeratosis ORPHA:276280
Mitral Valve Prolapse 1
Striae distensae, High palate, High, narrow palate OMIM:157700
Oral Erosive Lichen
Oral ulcer, Cheilitis, Dry skin, Erythema ORPHA:31142
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Conical tooth, Ectodermal dysplasia, Rhinitis, Hypodontia, Everted lower lip vermilion, Xerostomi... OMIM:614941
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Thin skin, Subcutaneous hemorrhage, Skin ulcer, Purpura ORPHA:743
Autosomal Dominant Prognathism
Everted lower lip vermilion, Open bite ORPHA:2964
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Thick lower lip vermilion, Hypodontia, Short philtrum, Everted lower lip vermilion, ... OMIM:618342
Dermatomyositis
Respiratory insufficiency, Pulmonary arterial hypertension, Abnormal pulmonary interstitial morph... ORPHA:221
Hypothyroidism, Congenital, Nongoitrous, 4
Dry skin OMIM:275100
Pierpont Syndrome
Widely spaced teeth, Prominent median palatal raphe, Everted lower lip vermilion, Smooth philtrum... OMIM:602342
Atypical Werner Syndrome
Lack of skin elasticity, Thin skin, Premature graying of hair, Prematurely aged appearance, Skin ... ORPHA:79474
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:281090
Immunodeficiency 23
High palate, Bronchiectasis, Allergic rhinitis, Asthma, Eczema, Chronic mucocutaneous candidiasis... OMIM:615816
Loeys-Dietz Syndrome 4
Striae distensae, Pneumothorax, Hyperextensible skin, High palate, Bifid uvula, Bruising suscepti... OMIM:614816
De Barsy Syndrome
Dermal translucency, Cutis laxa, Excessive wrinkled skin ORPHA:2962
Fibromuscular Dysplasia, Multifocal
Striae distensae, Hyperextensible skin, Dermal translucency, Soft, doughy skin, Soft skin OMIM:619329
Central Diabetes Insipidus
Hyponatremia, Polydipsia, Dehydration ORPHA:178029
Dermoodontodysplasia
Dry skin ORPHA:1660
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Agenesis ... ORPHA:2228
Microcephalic Primordial Dwarfism, Montreal Type
Dry skin ORPHA:2617
Xeroderma Pigmentosum Variant
Dry skin ORPHA:90342
Thyroid Dyshormonogenesis 1
Dry skin OMIM:274400
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Dry skin, Acanthosis nigricans OMIM:262190
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Pustule, Scaling skin, Erythema, Generalized abnormality of ... ORPHA:294023
Vitamin B12-Responsive Methylmalonic Acidemia
Hyperammonemia, Dehydration ORPHA:28
Prolidase Deficiency
High palate, Prolonged neonatal jaundice, Petechiae, Crusting erythematous dermatitis, Asthma, Sk... OMIM:170100
Progeroid Syndrome, Petty Type
Cutis laxa, Reduced subcutaneous adipose tissue, Everted lower lip vermilion, Redundant skin, Too... ORPHA:2963
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Everted lower lip vermilion, Oligodontia, Anodontia ORPHA:276630
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hyperammonemia, Choreoathetosis, Dystonia, Dehydration ORPHA:79312
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Everted lower lip vermilion, Thin upper lip vermilion, Short philtrum, Wide mouth ORPHA:2429
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Acne inversa, Eczema, Subungual hyperkeratosis, Orthokeratosis OMIM:617337
Congenital Heart Defects And Ectodermal Dysplasia
Dry skin OMIM:617364
Hidrotic Ectodermal Dysplasia
Thickened skin, Hyperkeratotic papule, Cobblestone-like hyperkeratosis, Palmoplantar hyperkeratos... ORPHA:189
Beta-Mercaptolactate Cysteine Disulfiduria
Dry skin ORPHA:1035
De Sanctis-Cacchione Syndrome
Parakeratosis OMIM:278800
Juvenile Idiopathic Arthritis
Thickened skin, Pericardial effusion, Skin rash, Joint swelling, Generalized hyperkeratosis, Psor... ORPHA:92
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome