Gene Summary

Name:
ATP-binding cassette, sub-family A 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
preweaning lethality, complete penetrance Abca12em1(IMPC)J HOM   Early adult 0.00
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
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.

Gross Morphology Embryo E18.5

Images

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

MicroCT E18.5

Embryo reconstruction

8 Images

Electroretinography 3

Fundus file

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Gross Morphology Placenta E18.5

Images

4 Images

Auditory Brain Stem Response

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

8 Images

Electrocardiogram (ECG)

Waveform Image

15 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, Congenital nonbullous ichthyosiform erythroderma, Pruritus OMIM:146750
Keratosis, Focal Palmoplantar And Gingival
Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat... OMIM:148730
Ulerythema Ophryogenesis
Facial erythema, Contact dermatitis, Miscarriage, Dry skin, Acne, Hyperkeratotic papule, Follicul... ORPHA:3406
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Perioral hyperkeratosis,... OMIM:613000
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis OMIM:617574
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Facial erythema, Palmar pruritus, Pruritus on foot, Eczematoid dermatitis, Palmopl... ORPHA:64745
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis, Pruritus ORPHA:735
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Peeling Skin Syndrome 6
Scaling skin, Parakeratosis, Dry skin, Atopic dermatitis, Orthokeratosis, Pruritus OMIM:618084
Ichthyosis With Erythrokeratoderma
Scaling skin, Parakeratosis, Erythema, Diffuse palmoplantar hyperkeratosis, Congenital ichthyosif... OMIM:620507
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Porokeratosis, Pruritus, Palmoplantar hyperkeratosis ORPHA:737
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Acquired Ichthyosis
Ichthyosis, Hyperkeratosis, Dry skin, Pruritus, Palmoplantar keratoderma, Recurrent skin infectio... 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
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in flexural areas, Congenital ... OMIM:601952
Bazex Syndrome
Scaling skin, Parakeratosis, Acanthosis nigricans, Hyperkeratosis, Palmoplantar keratoderma, Edem... ORPHA:166113
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers, Palmar pruritus, Atopic dermatitis, Orth... ORPHA:498359
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Orthokerat... OMIM:604117
White Sponge Nevus 2
Edema, Hyperparakeratosis OMIM:615785
Huriez Syndrome
Palmoplantar keratoderma, Lack of skin elasticity, Dry skin, Sclerodactyly ORPHA:384
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Ichthyosis, Congenital, Autosomal Recessive 6
Scaling skin, Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Erythroderma, Dry skin, Cong... OMIM:612281
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus OMIM:618531
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Ichthyosis, Congenital, Autosomal Recessive 14
Scaling skin, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform ... OMIM:617571
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Scaling skin on fingertip, Congenital nonb... ORPHA:79395
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin OMIM:602723
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Lamellar Ichthyosis
Ichthyosis, Hyperkeratosis, Dehydration, Dry skin, Lack of skin elasticity, Erythroderma, Pruritus ORPHA:313
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Skin vesicle, Parakeratosis, Erythema migrans, Pruritus ORPHA:158681
Hypotrichosis Simplex Of The Scalp
Scaling skin, Parakeratosis, Hyperkeratosis, Atopic dermatitis, Pruritus ORPHA:90368
Palmoplantar Keratoderma And Congenital Alopecia 2
Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly, Palmoplantar hyperkeratosis OMIM:212360
Vulvovaginal Gingival Syndrome
Parakeratosis, Erythema, Pruritus ORPHA:83453
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Pityriasis Rubra Pilaris
Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis OMIM:173200
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Ichthyosis, Congenital, Autosomal Recessive 10
Generalized ichthyosis, Hyperkeratosis, Erythroderma, Orthokeratotic hyperkeratosis, Congenital n... OMIM:615024
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Generalized hyperkeratosis, Hyperkeratosis, Erythroderma, Cobblestone-like hyperkeratosis, Congen... OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Erythroderma, White scaling skin, Congenital nonbullous ichthyosiform erythroderma... OMIM:604777
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Scaling skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkeratosis, Dry skin, Atopic de... ORPHA:530838
Ichthyosis, Annular Epidermolytic, 1
Scaling skin, Ichthyosis, Hyperparakeratosis, Congenital bullous ichthyosiform erythroderma, Palm... OMIM:607602
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Classic Mycosis Fungoides
Skin ulcer, Hyperkeratosis, Skin rash, Dry skin, Eczematoid dermatitis, Pruritus, Edema, Erythema ORPHA:2584
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Ichthyosis, Hyperkeratosis, Pruritus, Palmoplantar keratoderma, Erythema OMIM:615821
Olmsted Syndrome, X-Linked
Parakeratosis, Subungual hyperkeratosis, Hyperkeratosis, Palmoplantar hyperkeratosis, Palmoplanta... OMIM:300918
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Hyperkeratosis, Ichthyosis, Diffuse palmoplantar hyperkeratosis ORPHA:79503
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythema, Palmoplantar hyperker... OMIM:617526
Bathing Suit Ichthyosis
Scaling skin, Parakeratosis, Ichthyosis, Thickened skin, Congenital nonbullous ichthyosiform eryt... ORPHA:100976
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Scaling skin, Parakeratosis, Psoriasiform lesion, Superficial dermal perivascular inflammatory in... ORPHA:284426
Acral Self-Healing Collodion Baby
Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Edema of the dorsum of hands, ... ORPHA:281127
Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis, Dry skin ORPHA:461
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Tylosis With Esophageal Cancer
Parakeratosis, Follicular hyperkeratosis, Diffuse palmoplantar hyperkeratosis OMIM:148500
Ichthyosis Vulgaris
Ichthyosis, Dry skin, Eczematoid dermatitis OMIM:146700
Olmsted Syndrome 2
Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Palmoplantar hyperkeratosis, Palmoplantar... OMIM:619208
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Ichthyosis Hystrix, Curth-Macklin Type
Scaling skin, Hyperkeratotic papule, Palmoplantar keratoderma, Fragile skin OMIM:146590
Olmsted Syndrome 1
Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Subungual hyperkeratosis, Palmop... OMIM:614594
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Lack of skin elasticity ORPHA:1366
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Ichthyosis, Hyperkeratosis, Erythroderma, Congenital bullous ichthyosiform erythroder... ORPHA:312
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Ichthyosis, Congenital ichthyosiform erythroderma, Congenital nonbullous ichthyosi... OMIM:242300
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Ichthyosis, Acanthosis nigricans, Hyperkeratosis, Dry skin, Xerostomia OMIM:618527
Erythrokeratodermia Variabilis
Hyperkeratosis, Skin rash, Dry skin, Patchy palmoplantar hyperkeratosis, Erythema ORPHA:317
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Ichthyosis, Dry skin ORPHA:2271
C1Q Deficiency 2
Facial erythema, Atelectasis, Recurrent lower respiratory tract infections, Malar rash, Oral ulce... OMIM:620321
Mal De Meleda
Epidermal acanthosis, Ichthyosis, Superficial dermal perivascular inflammatory infiltrate, Nonepi... ORPHA:87503
Superficial Epidermolytic Ichthyosis
Ichthyosis, Palmoplantar keratoderma, Acantholysis, Edema, Erythema ORPHA:455
Dermatitis, Atopic
Facial erythema, Ichthyosis, Dry skin, Atopic dermatitis, Eczematoid dermatitis, Recurrent skin i... OMIM:603165
Peeling Skin Syndrome 5
Scaling skin, Hyperkeratosis OMIM:617115
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Scaling skin, Generalized hyperkeratosis, Generalized ichthyosis, Dry skin, Cutis laxa ORPHA:2269
Atrophoderma Vermiculata
Hyperkeratotic papule, Erythema, Pruritus, Follicular hyperkeratosis ORPHA:79100
Chilblain Lupus
Skin ulcer, Malar rash, Hyperkeratosis, Discoid lupus rash, Skin rash, Inflammatory abnormality o... ORPHA:90280
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Pruritus ORPHA:505
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Skin ulcer, Pruritus ORPHA:409
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess fo... OMIM:613736
Elastosis Perforans Serpiginosa
Cutis laxa, Hyperkeratotic papule, Crusting erythematous dermatitis ORPHA:79148
Parana Hard Skin Syndrome
Thickened skin, Hyperkeratosis ORPHA:2812
Psoriasis 14, Pustular
Parakeratosis, Pustule, Erythema, Psoriasiform dermatitis OMIM:614204
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Scaling skin, Ichthyosis, Death in childhood, Hyperkeratosis, Dry skin, Congenital nonbullous ich... OMIM:614457
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Pruritus, Hyperkeratotic papule, Crusting... ORPHA:79147
Anonychia With Flexural Pigmentation
Hyperkeratosis, Follicular hyperkeratosis ORPHA:69125
Diffuse Palmoplantar Keratoderma, Bothnian Type
Skin ulcer, Erythema, Pruritus, Diffuse palmoplantar hyperkeratosis ORPHA:2337
Sjögren-Larsson Syndrome
Hyperkeratosis, Ichthyosis, Dry skin, Erythema ORPHA:816
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Generalized hyperkeratosis OMIM:133200
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Scaling skin, Hyperkeratosis, Dry skin, Punctate palmoplantar hyperkeratosis, Acantholysis, Pruri... OMIM:616295
Intellectual Developmental Disorder, Fra12A Type
Erythroderma, Hyperkeratosis OMIM:136630
Idiopathic Localized Lipodystrophy
Scaling skin, Morphea, Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin,... ORPHA:90158
Cutaneous Mastocytoma
Scaling skin, Erythema, Maculopapular exanthema, Telangiectasia macularis eruptiva perstans, Peau... ORPHA:79455
Netherton Syndrome
Parakeratosis, Eczematoid dermatitis, Angioedema, Congenital nonbullous ichthyosiform erythroderm... OMIM:256500
Amyloidosis, Primary Localized Cutaneous, 3
Dry skin, Pruritus OMIM:617920
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Lymphedema, Nonimmune hydrops fetalis, Epidermal hyperkeratosis, Dermal transluc... OMIM:137940
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Ichthyosis, Dry skin, Orthokeratosis, Pruritus OMIM:607626
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Ichthyosis, Dry skin, Death in infancy ORPHA:1954
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Facial erythema, Dry skin, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis OMIM:308800
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Palmar hyperkeratosis, Hyperkeratosis, Pruritus, Plantar hyperkeratosis ORPHA:79399
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hyperkeratosis, Pruritus, Palmoplantar hyperkeratosis ORPHA:89838
Ichthyosis, Annular Epidermolytic, 2
Scaling skin, Ichthyosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, ... OMIM:620148
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Palmoplantar keratoderma, Dry skin, Pruritus, Eczematoid dermatitis OMIM:618535
Ichthyosis, Congenital, Autosomal Recessive 8
Ichthyosis, Hyperkeratosis, Hypergranulosis, Orthokeratosis, Erythema OMIM:613943
Lichen Planus Pemphigoides
Skin vesicle, Hyperkeratosis, Pruritus ORPHA:254478
Schopf-Schulz-Passarge Syndrome
Palmoplantar keratoderma, Hyperkeratosis, Dry skin OMIM:224750
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Acantholysis, Erythema ORPHA:2841
Hypotrichosis 6
Erythema, Pruritus, Follicular hyperkeratosis OMIM:607903
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Acral Peeling Skin Syndrome
Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin, Eczematoid dermatitis, Erythema ORPHA:263534
Progressive Symmetric Erythrokeratodermia
Palmoplantar keratoderma, Erythema ORPHA:316
Netherton Syndrome
Ichthyosis, Emphysema, Acanthosis nigricans, Skin rash, Dehydration, Dry skin, Eczematoid dermati... ORPHA:634
Congenital Disorder Of Glycosylation, Type Iq
Ichthyosis, Hyperkeratosis, Dry skin, Eczematoid dermatitis, Cutis laxa OMIM:612379
Congenital Disorder Of Glycosylation, Type If
Scaling skin, Hyperkeratosis, Dry skin, Death in infancy, Erythroderma OMIM:609180
Peeling Skin Syndrome 4
Scaling skin, Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:607936
Harlequin Ichthyosis
Ichthyosis, Congenital ichthyosiform erythroderma, Hyperkeratosis, Dehydration, Erythroderma ORPHA:457
Epidermolytic Hyperkeratosis 1
Scaling skin, Epidermal acanthosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar h... OMIM:113800
Trichothiodystrophy 7, Nonphotosensitive
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis OMIM:618546
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Abnormal elasticity of skin, Dry skin, Follicular hyperkeratosis ORPHA:486815
Peeling Skin Syndrome 3
White scaling skin, Erythema, Pruritus OMIM:616265
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Hypergra... ORPHA:2199
Focal Palmoplantar And Gingival Keratoderma
Gingival hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Circumungual hyperke... ORPHA:2200
Lymphatic Malformation 4
Hyperkeratosis, Lymphedema, Pedal edema OMIM:615907
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
Sézary Syndrome
Erythroderma, Dry skin, Palmoplantar keratoderma, Edema, Pruritus ORPHA:3162
Costello Syndrome
Polyhydramnios, Acanthosis nigricans, Hyperkeratosis, Redundant skin, Lack of skin elasticity ORPHA:3071
Erythrokeratodermia Variabilis Et Progressiva 2
Palmoplantar keratoderma, Erythema OMIM:617524
Pemphigus Foliaceus
Scaling skin, Erythema, Oral ulcer, Acantholysis, Pustule, Abnormal oral mucosa morphology, Eryth... ORPHA:79481
Erythrokeratodermia Variabilis Et Progressiva 3
Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis, Erythema OMIM:617525
Chromomycosis
Hyperparakeratosis, Predominantly lower limb lymphedema, Hyperkeratosis, Lymphedema, Edema, Hyper... ORPHA:182
Vibratory Urticaria
Urticaria, Facial erythema, Flushing, Dermatographic urticaria OMIM:125630
Acrokeratosis Verruciformis
Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Acantholysis, Acrokeratosis OMIM:101900
Darier Disease
Thickened skin, Acrokeratosis, Palmoplantar keratoderma, Skin vesicle, Pruritus, Subungual hyperk... ORPHA:218
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Palmoplantar keratoderma, Thickened skin, Lack of skin elasticity ORPHA:1979
Reticular Dysgenesis
Skin rash, Skin ulcer, Dehydration, Recurrent respiratory infections ORPHA:33355
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Mastocytosis, Cutaneous
Edema, Urticaria, Erythema, Telangiectasia macularis eruptiva perstans OMIM:154800
Pili Torti-Onychodysplasia Syndrome
Palmoplantar keratoderma, Generalized keratosis follicularis, Dry skin, Eczematoid dermatitis ORPHA:2890
Congenital Disorder Of Glycosylation, Type Im
Ichthyosis, Hyperkeratosis, Dry skin, Death in infancy, Inflammatory abnormality of the skin OMIM:610768
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar scaling skin, Death in early adulthood, Death in adolescence, Palmoplantar erythema,... OMIM:605676
Antisynthetase Syndrome
Abnormal pulmonary interstitial morphology, Xerostomia, Skin rash, Lack of skin elasticity, Telan... ORPHA:81
Irida Syndrome
Hyperkeratosis, Ichthyosis, Pallor ORPHA:209981
Palmoplantar Keratoderma, Epidermolytic, 1
Palmar hyperkeratosis, Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplant... OMIM:144200
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Skin ulcer, Hypodontia, Neoplasm of the lung, Abnormality of the dentition, Thickened skin, Cario... ORPHA:659
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Hyperextensible skin, Gingival hyperkeratosis, Redundant skin, Blepharochalasis, Dermal transluce... OMIM:225410
Cutaneous Small Vessel Vasculitis
Purpura, Abnormal oral cavity morphology, Skin rash, Urticaria, Cutis marmorata, Recurrent skin i... ORPHA:889
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin, Pruritus OMIM:105250
Palmoplantar Keratoderma, Punctate Type Ia
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis OMIM:148600
Primary Erythromelalgia
Recurrent respiratory infections, Erythema, Pruritus ORPHA:90026
Lichen Planopilaris
Hyperkeratosis, Skin ulcer, Pruritus ORPHA:525
Hydroa Vacciniforme
Hydroa vacciniforme, Cutaneous photosensitivity, Malar rash, Superficial dermal perivascular infl... ORPHA:330058
Jessner Lymphocytic Infiltration Of The Skin
Erythema, Pruritus, Cutaneous photosensitivity ORPHA:33314
Neonatal Lupus Erythematosus
Parakeratosis, Malar rash, Hyperkeratosis, Skin rash, Maculopapular exanthema ORPHA:398124
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis, Abnormality of the dentition OMIM:612908
Sydenham Chorea
Recurrent streptococcus pneumoniae infections, Erythema ORPHA:306731
Iga Pemphigus
Skin vesicle, Pustule, Neutrophilic infiltration of the skin, Acantholysis, Cutaneous abscess, Pr... ORPHA:555905
Acute Interstitial Pneumonia
Ground-glass opacification, Cyanosis, Atelectasis, Pleural effusion, Parenchymal consolidation, B... ORPHA:79126
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Generalized abnormality of skin, Skin ulcer, Atelectasis, Delayed eruption of teeth, Skin rash, A... ORPHA:2314
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Parakeratosis, Follicular hyperkeratosis OMIM:615225
Prolidase Deficiency
Skin ulcer, Erythema, Cutaneous photosensitivity, Hyperkeratosis, Dry skin, Thin skin, Carious te... ORPHA:742
Familial Cold Autoinflammatory Syndrome 3
Erythema, Angioedema, Recurrent sinopulmonary infections, Cold urticaria, Dermatographic urticari... OMIM:614468
Lymphatic Malformation 12
Polyhydramnios, Hyperkeratosis, Lymphedema, Death in adolescence, Neonatal death, Nonimmune hydro... OMIM:620014
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin ORPHA:1028
Chronic Mucocutaneous Candidiasis
Cheilitis, Skin ulcer, Abnormal dental enamel morphology, Skin rash, Hyperkeratosis, Pruritus, Re... ORPHA:1334
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Leopard Syndrome 3
Hyperkeratosis, Epidermal hyperkeratosis, Dry skin OMIM:613707
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Facial erythema, Emphysema OMIM:618307
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Dermatofibrosarcoma Protuberans
Thickened skin, Skin ulcer, Erythema ORPHA:31112
Werner Syndrome
Neoplasm of the oral cavity, Premature graying of hair, Skin ulcer, Prematurely aged appearance, ... ORPHA:902
Acute Radiation Syndrome
Scaling skin, Skin ulcer, Hyperkeratosis, Inflammatory abnormality of the skin, Interstitial pneu... ORPHA:454831
Ichthyosis, Hystrix-Like, With Deafness
Ichthyosis, Hyperkeratosis, Erythroderma, Cobblestone-like hyperkeratosis, Palmoplantar hyperkera... OMIM:602540
Immunodeficiency 58
Scaling skin, Ichthyosis, Psoriasiform lesion, Recurrent aphthous stomatitis, Cutaneous photosens... OMIM:618131
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Erythema, Death in infancy OMIM:219095
Mal De Meleda
Perioral erythema, Congenital symmetrical palmoplantar keratosis, Ichthyosis OMIM:248300
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Asbestos Intoxication
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Pleural thickening, Atele... ORPHA:2302
Ichthyosis With Confetti
Scaling skin, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperker... OMIM:609165
Ichthyosis, Congenital, Autosomal Recessive 3
Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar kerato... OMIM:606545
Pityriasis Rubra Pilaris
Ichthyosis, Erythroderma, Eczematoid dermatitis, Thickened skin, Pustule, Subungual hyperkeratosi... ORPHA:2897
Meige Disease
Skin ulcer, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Lymphedema, Pleura... ORPHA:90186
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:619466
Erythema Of Acral Regions
Abnormality of the dentition, Erythema OMIM:227000
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Hyperkeratosis OMIM:247100
Inflammatory Skin And Bowel Disease, Neonatal, 2
Epidermal acanthosis, Polyhydramnios, Dehydration, Pustule, Recurrent pneumonia, Recurrent bronch... OMIM:616069
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema ORPHA:90160
Erosive Pustular Dermatosis Of The Scalp
Pustule, Erythema ORPHA:222
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule, Erythema ORPHA:346
Diffuse Cutaneous Mastocytosis
Scaling skin, Generalized abnormality of skin, Peau d'orange, Thickened skin, Urticaria, Darier's... ORPHA:79456
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Pruritus ORPHA:89843
Cutaneous Collagenous Vasculopathy
Diffuse telangiectasia, Vascular skin abnormality, Petechiae, Skin rash, Prominent superficial bl... ORPHA:280779
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Ichthyosis, Congenital, Autosomal Recessive 9
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Hypergranulosis, ... OMIM:615023
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Palpebral edema, Swollen lip, Tongue edema, Angioedema, Pharyngeal edema, Facial edema, Laryngeal... ORPHA:100057
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Pruritus, Plantar hyperkeratosis OMIM:616487
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... OMIM:616726
Panniculitis-Induced Localized Lipodystrophy
Vasculitis in the skin, Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin... ORPHA:90159
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Recurrent pneumonia, Atelectasis OMIM:615294
Acute Generalized Exanthematous Pustulosis
Scaling skin, Purpura, Facial edema, Predominantly dermal neutrophilic infiltrate, Pustule, Skin ... ORPHA:293173
Ichthyosis Prematurity Syndrome
Polyhydramnios, Generalized ichthyosis, Erythroderma, Pruritus, Follicular hyperkeratosis OMIM:608649
Polyarteritis Nodosa
Skin ulcer, Pleuritis, Abnormal lung morphology, Cutis marmorata, Erythema ORPHA:767
Angioma Serpiginosum
Vascular skin abnormality, Erythema ORPHA:95429
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Dermal translucency, Hyperextensible skin OMIM:619120
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Phenylketonuria
Dry skin, Scleroderma, Eczematoid dermatitis OMIM:261600
Ichthyosis, Congenital, Autosomal Recessive 2
Epidermal acanthosis, Congenital ichthyosiform erythroderma, Hyperkeratosis, Everted lower lip ve... OMIM:242100
Transgrediens Et Progrediens Palmoplantar Keratoderma
Facial erythema, Diffuse palmoplantar hyperkeratosis, High palate, Recurrent bacterial skin infec... ORPHA:495
Cole Disease
Hyperkeratosis, Hypergranulosis, Palmoplantar keratoderma, Punctate palmoplantar hyperkeratosis, ... OMIM:615522
Stiff Skin Syndrome
Thickened skin, Lack of skin elasticity ORPHA:2833
Respiratory Distress Syndrome In Premature Infants
Edema, Pulmonary edema, Atelectasis OMIM:267450
Macs Syndrome
Long philtrum, Palpebral edema, Ichthyosis, Hyperextensible skin, Recurrent aphthous stomatitis, ... OMIM:613075
Dowling-Degos Disease
Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Pruritus, Acne inversa ORPHA:79145
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Orthokeratotic hyperkeratosis, Streaks of hyperkeratosis along each finger onto the palm, Palmopl... OMIM:148700
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Cutaneous photosensitivity, Fragile skin, Thin skin, Palmoplantar hyperkeratosis, Crusting erythe... ORPHA:158673
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Leri Pleonosteosis
Thickened skin, Lack of skin elasticity ORPHA:2900
Moynahan Syndrome
Hyperkeratosis ORPHA:2574
Idiopathic Chronic Eosinophilic Pneumonia
Generalized abnormality of skin, Abnormal pulmonary thoracic imaging finding, Hypersensitivity pn... ORPHA:2902
Aicardi-Goutieres Syndrome 5
Scaling skin, Dry skin, Chilblains OMIM:612952
Dowling-Degos Disease 4
Hypergranulosis, Pruritus, Epidermal acanthosis OMIM:615696
Maculopapular Cutaneous Mastocytosis
Generalized abnormality of skin, Darier's sign, Pruritus, Flushing, Dermatographic urticaria, Ery... ORPHA:79457
Grubben-De Cock-Borghgraef Syndrome
Dry skin, Eczematoid dermatitis ORPHA:2101
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar keratoderma, Epidermal hyperkeratosis, Palmoplantar erythema, Plantar hyperkeratosis OMIM:104100
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Cutis Laxa, Autosomal Recessive, Type Iib
Excessive wrinkled skin, Redundant skin, High palate, Intrauterine growth retardation, Lack of sk... OMIM:612940
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Darier-White Disease
Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments OMIM:124200
Neu-Laxova Syndrome
Polyhydramnios, Ichthyosis, Abnormality of the philtrum, Everted lower lip vermilion, Bifid uvula... ORPHA:2671
Subacute Cutaneous Lupus Erythematosus
Malar rash, Hyperkeratosis, Discoid lupus rash, Psoriasiform lesion ORPHA:163525
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:615872
Woolly Hair-Skin Fragility Syndrome
Palmoplantar keratoderma, Acantholysis OMIM:620415
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Dermatitis Herpetiformis
Delayed eruption of teeth, Eczematoid dermatitis, Urticaria, Dental enamel pits, Pruritus, Edema,... ORPHA:1656
Chronic Hiccup
Abnormal eating behavior, Dehydration ORPHA:396
Classic Phenylketonuria
Tremor, Hyperphenylalaninemia, Eczematoid dermatitis, Lack of skin elasticity, Attention deficit ... ORPHA:79254
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Dermal translucency ORPHA:529965
Familial Cold Urticaria
Urticaria, Dehydration, Erythema, Pruritus ORPHA:47045
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Follicular hyperkeratosis OMIM:615147
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Dermal translucency, Hyperextensible skin OMIM:619115
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin OMIM:218650
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Autoinflammation With Arthritis And Dyskeratosis
Palmoplantar hyperkeratosis, Dry skin, Follicular hyperkeratosis OMIM:617388
Glutamine Deficiency, Congenital
Thin vermilion border, Recurrent respiratory infections, Neonatal death, Erythema OMIM:610015
Myotubular Myopathy With Abnormal Genital Development
Polyhydramnios, Atelectasis, High palate, Death in infancy, Neonatal death OMIM:300219
Uv-Sensitive Syndrome 3
Dry skin OMIM:614640
Keratolytic Winter Erythema
Erythema OMIM:148370
Bronchopulmonary Dysplasia
Abnormal lung morphology, Pulmonary sequestration, Emphysema, Atelectasis ORPHA:70589
Bare Lymphocyte Syndrome, Type I
Skin ulcer, Emphysema, Recurrent bronchitis, Bronchiolitis, Nasal polyposis, Bronchiectasis OMIM:604571
Pierpont Syndrome
Abnormal subcutaneous fat tissue distribution, Thin vermilion border, Widely spaced teeth, Long u... ORPHA:487825
Noonan Syndrome 8
Polyhydramnios, Hyperextensible skin, Hyperkeratosis, Pleural effusion, Eczematoid dermatitis, Pa... OMIM:615355
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Ectodermal dysplasia, Fragile skin, Palmoplantar hyperkeratosis OMIM:604536
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Hypergranulosis, Ichthyosis, Erythroderma OMIM:615022
Ectodermal Dysplasia-Skin Fragility Syndrome
Scaling skin, Cheilitis, Abnormal tongue morphology, Abnormality of the dentition, Fragile skin, ... ORPHA:158668
Ataxia-Photosensitivity-Short Stature Syndrome
Dry skin ORPHA:1184
Congenital Disorder Of Glycosylation, Type Iil
Hyperkeratosis, Peau d'orange, Dry skin, Death in infancy OMIM:614576
Lipoid Proteinosis
Thick lower lip vermilion, Hyperkeratosis, High palate, Nasal polyposis, Abnormality of the gingi... ORPHA:530
Pilarowski-Bjornsson Syndrome
Dermal translucency OMIM:617682
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Dehydration, Decreased circulating carnitine co... ORPHA:79159
Acrokeratosis Verruciformis Of Hopf
Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis ORPHA:79151
Gaucher Disease, Perinatal Lethal
Purpura, Polyhydramnios, Ichthyosis, Everted upper lip vermilion, Petechiae, Hyperkeratosis, Narr... OMIM:608013
Acrokeratoelastoidosis Of Costa
Hypergranulosis, Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis ORPHA:38
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Scaling skin, Chronic oral candidiasis, Recurrent respiratory infections, Pulmonary interstitial ... OMIM:606367
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Oligohydramnios, Dermal translucency, Hyperextensible skin, Soft, doughy skin ORPHA:541423
Keratoderma Hereditarium Mutilans
Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis ORPHA:494
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Parakeratosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Orthokeratosis,... OMIM:308050
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Meconium Aspiration Syndrome
Pneumothorax, Transient pulmonary infiltrates, Abnormal pulmonary thoracic imaging finding, Atele... ORPHA:70588
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Erythema ORPHA:36237
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Follicular hyperkeratosis OMIM:613576
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Hyperextensible skin, Follicular hyperkeratosis ORPHA:300179
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Uv-Sensitive Syndrome 1
Dry skin OMIM:600630
Dermoodontodysplasia
Dry skin OMIM:125640
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Necrobiosis Lipoidica
Skin ulcer, Fragile skin, Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema ORPHA:542592
Hypohidrotic Ectodermal Dysplasia
Hyperkeratosis, Dry skin, Xerostomia, Eczematoid dermatitis ORPHA:238468
Recon Progeroid Syndrome
Scaling skin, Thin vermilion border, Cutaneous photosensitivity, Dental crowding, Dry skin, Thin ... OMIM:620370
Odontoonychodermal Dysplasia
Epidermal acanthosis, Erythema, Smooth tongue, Conical incisor, Abnormality of primary teeth, Dry... OMIM:257980
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis OMIM:618625
Centrifugal Lipodystrophy
Scaling skin, Lack of facial subcutaneous fat, Reduced subcutaneous adipose tissue, Inflammatory ... ORPHA:90156
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Atelectasis, Respiratory tract infection, Pneumonia, Cyanosis ORPHA:70587
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Pseudoxanthoma Elasticum
Excessive wrinkled skin, Hyperextensible skin, Skin rash, High palate, Lack of skin elasticity, T... ORPHA:758
Erythema Palmare Hereditarium
Erythema OMIM:133000
Hailey-Hailey Disease
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
X-Linked Dominant Chondrodysplasia Punctata
Scaling skin, Ichthyosis, High palate, Abnormal lung morphology, Erythroderma ORPHA:35173
Flynn-Aird Syndrome
Hyperkeratosis OMIM:136300
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Palmoplantar keratoderma, Dry skin, Scaling skin OMIM:618373
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Dental crowding, Telangiectasia of the skin, Narrow mouth, Lack of skin elasticity OMIM:615381
Bullous Pemphigoid
Erythema, Eczematoid dermatitis, Urticaria, Pruritus, Psoriasiform dermatitis, Oral mucosal blisters ORPHA:703
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Ichthyosis, Erythroderma, Hypergranulosis, Palmoplantar keratoderma, Recurrent skin infections, A... OMIM:615508
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine growth retardation, Dehydration OMIM:601410
Cutis Laxa, Autosomal Dominant 3
Cutis laxa, Dermal translucency, Premature skin wrinkling OMIM:616603
Milroy Disease
Predominantly lower limb lymphedema, Hyperkeratosis, Lymphedema, Erysipelas, Pedal edema ORPHA:79452
Waardenburg Syndrome Type 3
Atelectasis, Tented upper lip vermilion, Acrocyanosis ORPHA:896
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Skin ulcer, Penetrating foot ulcers ORPHA:36386
Autosomal Erythropoietic Protoporphyria
Cutaneous photosensitivity, Eczematoid dermatitis, Pruritus, Edema, Erythema ORPHA:79278
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Cutis laxa, Emphysema OMIM:614100
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Ehlers-Danlos Syndrome, Classic Type, 2
Hyperextensible skin, Fragile skin, Recurrent sinusitis, Bruising susceptibility, Soft skin, Soft... OMIM:130010
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Emphysema, Redundant skin, Cutis laxa, Recurrent pneumonia, Lack of skin elasticity... ORPHA:90349
Familial Nasal Acilia
Bronchiectasis, Atelectasis, Abnormal respiratory motile cilium morphology, Recurrent upper respi... ORPHA:922
Variegate Porphyria, Childhood-Onset
Epidermal hyperkeratosis, Atopic dermatitis OMIM:620483
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration, Death in infancy OMIM:251850
Hereditary Acrokeratotic Poikiloderma
Skin ulcer, Ichthyosis, Xerostomia, Open bite, Gingival bleeding, Abnormality of the dentition, G... ORPHA:2907
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Urticaria, Everted lower lip vermilion, Abnormal dental morphology ORPHA:2251
Granulomatous Slack Skin
Cutis laxa, Redundant skin, Erythema ORPHA:33111
Cutis Laxa-Marfanoid Syndrome
Redundant skin, Emphysema ORPHA:171719
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Bronchiolitis, Pulmonary fibrosis ORPHA:254361
Kid Syndrome
Scaling skin, Progeroid facial appearance, Epidermal acanthosis, Palmoplantar keratoderma, Follic... ORPHA:477
Cutis Laxa, Autosomal Recessive, Type Ic
Death in childhood, Atelectasis, Emphysema, Redundant skin, Ascites, Death in infancy, Cutis laxa... OMIM:613177
Cerebrooculofacioskeletal Syndrome 1
Thin vermilion border, Death in childhood, Delayed eruption of teeth, Dehydration, Carious teeth,... OMIM:214150
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Chronic mucocutaneous candidiasis, Dry skin, Atopic dermatitis, Eczemat... OMIM:618282
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Cutis laxa, Soft skin, Hyperextensible skin, Dermal translucency OMIM:615349
Mycosis Fungoides
Psoriasiform dermatitis, Erythema, Pruritus, Eczematoid dermatitis OMIM:254400
8Q22.1 Microdeletion Syndrome
Long philtrum, Submucous cleft hard palate, Abnormality of the dentition, Lack of skin elasticity ORPHA:178303
Trichothiodystrophy 1, Photosensitive
Hyperkeratosis, Dry skin, Death in infancy, Congenital nonbullous ichthyosiform erythroderma, Ery... OMIM:601675
Mpdu1-Cdg
Scaling skin, Thin vermilion border, Ichthyosis, Eczematoid dermatitis ORPHA:79323
Omenn Syndrome
Dry skin, Thickened skin, Erythroderma, Edema, Pruritus ORPHA:39041
Fountain Syndrome
Abnormal palate morphology, Thick lower lip vermilion, Hyperextensible skin, Gingival overgrowth,... ORPHA:3219
Aplasia Cutis Congenita
Skin ulcer, Erythema ORPHA:1114
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Dystonia, Dehydration, Methylmalonic acidemia ORPHA:289504
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Atelectasis, Parenchymal consolidation, Elevated bronchoalveolar lava... OMIM:610978
Naegeli-Franceschetti-Jadassohn Syndrome
Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Dry skin, Subungual hyperkerat... ORPHA:69087
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Bronchogenic Cyst
Bronchogenic cyst, Abnormal pulmonary thoracic imaging finding, Atelectasis, Abnormal pleura morp... ORPHA:2357
Protoporphyria, Erythropoietic, 1
Edema, Erythema, Pruritus, Eczematoid dermatitis OMIM:177000
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Acanthosis nigricans, Dry skin ORPHA:3085
Renal Hypodysplasia/Aplasia 2
Redundant skin, Pulmonary hypoplasia OMIM:615721
Sting-Associated Vasculopathy, Infantile-Onset
Malar rash, Skin rash, Pustular rash, Pustule, Cutis marmorata, Pulmonary fibrosis, Livedo reticu... OMIM:615934
Tempi Syndrome
Abnormality of the pulmonary vasculature, Transudative pleural effusion, Facial erythema, Ascites... ORPHA:284227
Kanzaki Disease
Petechiae, Hyperkeratosis, Lymphedema, Dry skin OMIM:609242
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Skin vesicle, Hyperkeratotic papule, Pruritus ORPHA:79410
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Intrauterine growth retardation, Thin vermilion border, Everted lower lip vermilion, Smooth philtrum ORPHA:73273
Graft Versus Host Disease
Scaling skin, Jaundice, Stomatitis, Oral ulcer, Inflammatory abnormality of the skin, Pneumonia, ... ORPHA:39812
Cutis Laxa, Autosomal Recessive, Type Iiib
Cutis laxa, Dermal translucency, Excessive wrinkled skin OMIM:614438
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Recurrent viral upper respiratory tract infections, Everted lower lip vermilion, ... OMIM:616898
Bone Marrow Failure Syndrome 4
Dry skin, Eczematoid dermatitis OMIM:618116
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Angioedema, Pustule, Enanthema, Erythroderma, Interstitial pneumonitis, Pulmonary infi... ORPHA:139402
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Riddle Syndrome
Dry skin OMIM:611943
Peeling Skin Syndrome 1
Erythroderma, Scaling skin, Pruritus OMIM:270300
Nicolaides-Baraitser Syndrome
Thin vermilion border, High, narrow palate, Excessive wrinkled skin, Everted lower lip vermilion,... ORPHA:3051
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Hyperextensible skin, Petechiae, Thin skin, Bruising susceptibility, Striae distensae OMIM:225310
Chilblain Lupus 1
Skin ulcer, Chilblains, Cutaneous photosensitivity OMIM:610448
Man1B1-Cdg
Short philtrum, Cutis laxa, Eclabion, Thick vermilion border, Smooth philtrum, Thin upper lip ver... ORPHA:397941
Limited Cutaneous Systemic Sclerosis
Mucosal telangiectasiae, Skin ulcer, Telangiectasia of the skin, Pulmonary fibrosis ORPHA:220402
Rhizomelic Chondrodysplasia Punctata
Ichthyosis, Dry skin ORPHA:177
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Palmoplantar keratoderma, Hyperkeratotic papule, Palmoplantar hyperkeratosis ORPHA:2698
Complex Regional Pain Syndrome
Edema of the upper limbs, Pedal edema, Dry skin, Erythema ORPHA:83452
Ehlers-Danlos Syndrome, Hypermobility Type
Soft skin, Hyperextensible skin, Striae distensae OMIM:130020
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Pemphigus Erythematosus
Malar rash, Acantholysis ORPHA:79480
14Q11.2 Microdeletion Syndrome
Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Long philtrum, D... ORPHA:261120
Hennekam-Beemer Syndrome
Thick lower lip vermilion, High palate, Thickened skin, Urticaria, Pruritus, Telangiectasia of th... ORPHA:2135
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum, Cutaneous abscess, Chronic furunculosis OMIM:619986
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Baralle-Macken Syndrome
Acanthosis nigricans, Striae distensae OMIM:619255
Proteus Syndrome
Hyperkeratosis OMIM:176920
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Immunodeficiency 114, Folate-Responsive
Skin ulcer, Recurrent lower respiratory tract infections, Atopic dermatitis, Carious teeth, Aphth... OMIM:620603
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Lymphedema ORPHA:79279
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Dehydration, Dysphagia OMIM:618958
Restrictive Dermopathy 1
Scaling skin, Stillbirth, Polyhydramnios, Prominent superficial blood vessels, Narrow mouth, Subm... OMIM:275210
Chand Syndrome
Atelectasis, Agenesis of maxillary incisor, Dry skin, Abnormal oral frenulum morphology, Commissu... ORPHA:1401
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Recurrent sinopulmonary infections, Bronchiolitis, Erythema OMIM:614878
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Hyperextensible skin, Repeated pneumothoraces, High palate, Microdontia, Thin skin, ... ORPHA:536467
Autosomal Agammaglobulinemia
Skin rash, Dehydration, High palate, Bronchiectasis, Recurrent skin infections, Recurrent respira... ORPHA:33110
Combined Immunodeficiency Due To Dock8 Deficiency
Skin ulcer, Recurrent bacterial skin infections, Atopic dermatitis, Recurrent sinusitis, Pneumoni... ORPHA:217390
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent pneumonia, Atelectasis, Recurrent upper respiratory tract inf... ORPHA:60032
Atelis Syndrome 1
Dry skin, Eczematoid dermatitis OMIM:620184
Cofs Syndrome
Intrauterine growth retardation, Everted lower lip vermilion, Cutaneous photosensitivity, Death i... ORPHA:1466
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Skin ulcer, Pruritus ORPHA:231
Central Diabetes Insipidus
Polydipsia, Hyponatremia, Dehydration, Anorexia ORPHA:178029
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infections ORPHA:3348
Mandibuloacral Dysplasia With Type A Lipodystrophy
Prematurely aged appearance, High palate, Abnormality of the dentition, Thin skin, Lack of skin e... ORPHA:90153
Ramon Syndrome
Hyperkeratosis ORPHA:3019
Ichthyosis, Congenital, Autosomal Recessive 11
Congenital ichthyosiform erythroderma, Hyperkeratosis, Pruritus OMIM:602400
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Follicular hyperkeratosis OMIM:613102
Riddle Syndrome
Scaling skin, Abnormal pulmonary interstitial morphology, Bronchitis, Conjunctival telangiectasia... ORPHA:420741
Fixed Drug Eruption
Generalized abnormality of skin, Stomatitis, Oral ulcer, Crusting erythematous dermatitis, Erythema ORPHA:293812
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Exaggerated cupid's bow, H... ORPHA:2025
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Dehydration, Hyperammonemia, Dystonia, Choreoathetosis ORPHA:79312
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Recurrent lower respiratory tract infections, Oral ulcer, Recurrent upper re... ORPHA:169154
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Spinocerebellar Ataxia Type 34
Dry skin ORPHA:1955
Snakebite Envenomation
Gingival bleeding, Angioedema, Ecchymosis, Edema, Erythema ORPHA:449285
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Dry skin OMIM:600906
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Palmar hyperkeratosis, Hyperkeratotic papule, Plantar hyperkeratosis ORPHA:79397
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Dry skin, Eclabion, Congenital nonbullous ichthyosiform erythroderma, Cerebral edema, Long philtr... OMIM:620510
Mitochondrial Complex I Deficiency, Nuclear Type 35
Redundant neck skin, Neonatal death, Pulmonary hypoplasia, Nonimmune hydrops fetalis, Intrauterin... OMIM:619003
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Dry skin ORPHA:248
Transient Neonatal Diabetes Mellitus
Intrauterine growth retardation, Macroglossia, Dehydration ORPHA:99886
Arthrogryposis And Ectodermal Dysplasia
Hyperkeratosis, Dry skin OMIM:601701
Restrictive Dermopathy
Scaling skin, Polyhydramnios, Generalized hyperkeratosis, Epidermal hyperkeratosis, Dermal transl... ORPHA:1662
Warburg-Cinotti Syndrome
Pneumothorax, Dental crowding, Gingival overgrowth, High palate, Thin skin, Joint swelling, Poor ... OMIM:618175
Juvenile Hyaline Fibromatosis
Gingival fibromatosis, Skin ulcer, Gingival overgrowth, Death in infancy ORPHA:2028
Lujo Hemorrhagic Fever
Purpura, Atelectasis, Skin rash, Generalized edema, Cerebral edema, Ecchymosis, Periorbital edema... ORPHA:319213
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Free Sialic Acid Storage Disease
Recurrent respiratory infections, Hydrops fetalis, Ascites, Skin ulcer ORPHA:834
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Facial erythema, Folliculitis, Carious teeth, Enamel hypoplasia, Palmoplantar keratoderma OMIM:612843
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Scaling skin, Long philtrum, Skin ulcer, Chylothorax, Lymphedema, Pleural effusion, Dry skin, Thi... ORPHA:2526
Warty Dyskeratoma
Acantholysis, Epidermal thickening, Acrokeratosis ORPHA:69745
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Acanthosis nigricans, Dry skin OMIM:268020
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin OMIM:614450
Bacterial Toxic-Shock Syndrome
Scaling skin, Pneumonia, Skin rash, Respiratory tract infection, Ecchymosis, Edema, Recurrent ski... ORPHA:36234
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Seborrheic dermatitis, Redundant skin, High palate, Eczematoid dermatitis, Palmoplantar hyperkera... OMIM:259100
Trichothiodystrophy 6, Nonphotosensitive
Ichthyosis, Dry skin OMIM:616943
Elastoderma
Cutis laxa, Erysipelas, Premature skin wrinkling, Eczematoid dermatitis ORPHA:228240
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis, Neonatal death OMIM:609638
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lo... OMIM:620233
Intellectual Developmental Disorder, X-Linked 19
Dental crowding, Thick lower lip vermilion, Everted lower lip vermilion OMIM:300844
Cardiofaciocutaneous Syndrome
Ichthyosis, Excessive wrinkled skin, Hyperextensible skin, Hyperkeratosis, Redundant skin, Lymphe... ORPHA:1340
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Increased circulating corticosterone level, Dehydration, Increased circulating reni... OMIM:610600
Rheumatic Fever
Pallor, Recurrent pharyngitis, Abnormal pleura morphology, Erythema ORPHA:3099
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Acantholysis ORPHA:704
Isolated Agammaglobulinemia
Pneumonia, Skin ulcer, Skin rash, Recurrent cutaneous abscess formation, Recurrent respiratory in... ORPHA:229717
Acrogeria
Skin ulcer, Excessive wrinkled skin, Prematurely aged appearance, Thin skin, Telangiectasia of th... ORPHA:2500
Maxillonasal Dysplasia
Open bite, Microdontia, Tooth agenesis, Cleft palate, Striae distensae ORPHA:1248
Vitamin B12-Responsive Methylmalonic Acidemia
Hyperammonemia, Dehydration ORPHA:28
Attenuated Chédiak-Higashi Syndrome
Bruising susceptibility, Recurrent respiratory infections, Skin ulcer, Gingival bleeding ORPHA:352723
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Everted upper lip vermilion, Conical tooth, Periorbital wrinkles, Oligodontia, Everted lower lip ... OMIM:224900
Congenital Syphilis
Palmoplantar scaling skin, Purpura, Hydrops fetalis, Petechiae, Notched primary central incisor, ... ORPHA:499009
Intellectual Developmental Disorder, Autosomal Dominant 62
Striae distensae OMIM:618793
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:281090
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Dry skin OMIM:129490
Mitral Valve Prolapse 1
High, narrow palate, High palate, Striae distensae OMIM:157700
Hypothyroidism, Congenital, Nongoitrous, 4
Dry skin OMIM:275100
Pierpont Syndrome
Thin vermilion border, Widely spaced teeth, Long upper lip, Prominent median palatal raphe, Evert... OMIM:602342
Autosomal Dominant Prognathism
Open bite, Everted lower lip vermilion ORPHA:2964
Juvenile Dermatomyositis
Palpebral edema, Skin ulcer, Cutaneous photosensitivity, Skin rash, Dry skin, Pruritus, Telangiec... ORPHA:93672
Dermatomyositis
Palmar hyperkeratosis, Abnormal pulmonary interstitial morphology, Facial erythema, Skin ulcer, E... ORPHA:221
Fibromuscular Dysplasia, Multifocal
Dermal translucency, Hyperextensible skin, Soft skin, Striae distensae, Soft, doughy skin OMIM:619329
De Barsy Syndrome
Cutis laxa, Dermal translucency, Excessive wrinkled skin ORPHA:2962
Atypical Werner Syndrome
Neoplasm of the oral cavity, Thin vermilion border, Premature graying of hair, Skin ulcer, Premat... ORPHA:79474
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Overjet, Thick lower lip vermilion, Short philtrum, Dental crowding, High palate, Everted lower l... OMIM:618342
Cdkl5-Deficiency Disorder
Deep philtrum, Thick vermilion border, Everted lower lip vermilion ORPHA:505652
Hatipoglu Immunodeficiency Syndrome
Petechiae, Dry skin, Atopic dermatitis, Eczematoid dermatitis, Thickened skin OMIM:620331
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Hyperparakeratosis ORPHA:276280
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinusitis, Recurrent pneumonia, Recurrent sinopulmonary infections, Bronchiectasis, Rec... OMIM:616576
Immunodeficiency 23
Chronic mucocutaneous candidiasis, High palate, Molluscum contagiosum, Eczematoid dermatitis, Vas... OMIM:615816
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Conical tooth, Periorbital wrinkles, Ectodermal dysplasia, Dry skin, Everted lower lip vermilion,... OMIM:614941
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Atelectasis, Ascites, Median cleft palate, Neonatal death, Pulmonary hypoplasia, ... OMIM:269860
Microcephalic Primordial Dwarfism, Montreal Type
Dry skin ORPHA:2617
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Nasal polyposis, Respiratory tract infection, Recurrent si... ORPHA:244
Prolidase Deficiency
Skin ulcer, Diffuse telangiectasia, Petechiae, High palate, Eczematoid dermatitis, Prolonged neon... OMIM:170100
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Eczematoid dermatitis, Orthokeratosis, Acne inversa, Subungual hyperkeratosis OMIM:617337
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scaling skin, Ichthyosis follicularis, Subungual hyperkeratosis, Hydromyelia, Death in childhood,... OMIM:308205
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Oligodontia, Anodontia, Everted lower lip vermilion ORPHA:276630
Dermoodontodysplasia
Dry skin ORPHA:1660
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Wide mouth, Everted lower lip vermilion, Short philtrum, Thin upper lip vermilion ORPHA:2429
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities