Gene Summary

Name:
cytochrome P450, family 4, subfamily f, polypeptide 39
Synonyms:
4732474A20Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Cyp4f39em1(IMPC)J HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

X-ray

XRay Images Skull Lateral Orientation

3 Images

Electroretinography 3

Fundus file

8 Images

X-ray

XRay Images Forepaw

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

3 Images

Auditory Brain Stem Response

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

8 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

Human diseases caused by Cyp4f39 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 Cyp4f39 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis, White scaling skin OMIM:604777
Lamellar Ichthyosis
Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Erythroderma, Dry skin ORPHA:313

The table below shows human diseases predicted to be associated to Cyp4f39 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ulerythema Ophryogenesis
Acne, Miscarriage, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, C... ORPHA:3406
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin OMIM:617571
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Progressive Symmetric Erythrokeratodermia
Erythema, Palmoplantar keratoderma ORPHA:316
Aquagenic Palmoplantar Keratoderma
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... ORPHA:498359
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Erythema, Palmoplantar hyperkeratosis OMIM:617526
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dry skin ORPHA:454
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery... ORPHA:64745
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Palmoplantar keratoderma OMIM:617524
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Atop... ORPHA:530838
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No... ORPHA:87503
Atrophoderma Vermiculata
Pruritus, Hyperkeratotic papule, Erythema, Follicular hyperkeratosis ORPHA:79100
Vibratory Urticaria
Urticaria, Flushing, Facial erythema OMIM:125630
Jessner Lymphocytic Infiltration Of The Skin
Pruritus, Cutaneous photosensitivity, Erythema ORPHA:33314
Peeling Skin Syndrome 3
Pruritus, Erythema, White scaling skin OMIM:616265
Palmoplantar Keratoderma And Congenital Alopecia 2
Hyperkeratosis, Dry skin, Palmoplantar hyperkeratosis, Facial erythema OMIM:212360
Erythrokeratodermia Variabilis
Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Weight loss, Hyperkeratosis, Cutaneous p... ORPHA:317
Elastoderma
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa ORPHA:228240
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis... ORPHA:280779
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Death in infancy, Erythema OMIM:219095
Mastocytosis, Cutaneous
Urticaria, Erythema, Edema, Telangiectasia macularis eruptiva perstans OMIM:154800
Classic Mycosis Fungoides
Skin rash, Eczema, Edema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin ORPHA:2584
Hypotrichosis 6
Pruritus, Erythema, Follicular hyperkeratosis OMIM:607903
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis OMIM:620148
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta... ORPHA:330058
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Cutaneous photosensitivity ORPHA:735
Erosive Pustular Dermatosis Of The Scalp
Pustule, Erythema ORPHA:222
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema ORPHA:90160
Quinquaud Folliculitis Decalvans
Pustule, Erythema, Recurrent skin infections ORPHA:346
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Perioral erythema OMIM:248300
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Skin rash, Cutis marmorata, Erythema, Urticaria, Purpura ORPHA:889
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Weight loss, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Cutaneous photos... ORPHA:312
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i... ORPHA:90159
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Acral Self-Healing Collodion Baby
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... ORPHA:281127
Superficial Epidermolytic Ichthyosis
Erythema, Palmoplantar keratoderma, Edema, Acantholysis ORPHA:455
Vulvovaginal Gingival Syndrome
Pruritus, Parakeratosis, Erythema ORPHA:83453
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Pruritus, Laryngeal edema, Angioed... ORPHA:100057
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering... ORPHA:158681
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Fragile skin OMIM:615028
Dermatitis, Atopic
Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Dry skin OMIM:603165
Ichthyosis, Annular Epidermolytic, 1
Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Scaling skin, Orthokeratosis OMIM:607602
Dermatoleukodystrophy
Premature skin wrinkling, Progeroid facial appearance OMIM:221790
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis, Erythema OMIM:613943
Maculopapular Cutaneous Mastocytosis
Pruritus, Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flu... ORPHA:79457
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Erythema, Weight loss, Urticaria ORPHA:703
Erythrokeratodermia Variabilis Et Progressiva 3
Orthokeratosis, Hyperkeratosis, Erythema, Palmoplantar keratoderma OMIM:617525
Acral Peeling Skin Syndrome
Scaling skin, Erythema, Eczema, Excessive wrinkling of palmar skin ORPHA:263534
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc... ORPHA:90158
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis, Cutaneous photosensitivity ORPHA:1336
Keratolytic Winter Erythema
Erythema OMIM:148370
Sjögren-Larsson Syndrome
Urticaria, Hyperkeratosis, Erythema, Dry skin ORPHA:816
Erythema Of Acral Regions
Erythema OMIM:227000
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Cutis laxa OMIM:614434
Cutaneous Mastocytoma
Maculopapular exanthema, Telangiectasia of the skin, Pruritus, Angioedema, Erythema, Darier's sig... ORPHA:79455
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Edema, Acantholysis, Palmoplantar hyperkeratosis, Death in adolescence,... OMIM:605676
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
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma OMIM:615821
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Erythema ORPHA:36237
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Eczema, Edema, Pruritus, Erythema OMIM:177000
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Crusting erythematous dermatitis, Palmoplantar hyperkeratosis, Telangiectasia, Cutaneou... ORPHA:158673
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... ORPHA:79481
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Transaldolase Deficiency
Premature skin wrinkling, Hydrops fetalis, Edema, Telangiectasia ORPHA:101028
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis OMIM:146750
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Hyperkeratosis, Scaling skin, Death in childhood, Dry skin OMIM:614457
Primary Erythromelalgia
Pruritus, Erythema ORPHA:90026
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Autosomal Erythropoietic Protoporphyria
Eczema, Edema, Pruritus, Erythema, Cutaneous photosensitivity ORPHA:79278
Combined Oxidative Phosphorylation Deficiency 36
Premature skin wrinkling, Failure to thrive OMIM:617950
Dermatitis Herpetiformis
Eczema, Edema, Pruritus, Erythema, Urticaria, Skin vesicle ORPHA:1656
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Transgrediens Et Progrediens Palmoplantar Keratoderma
Recurrent bacterial skin infections, Plantar hyperkeratosis, Diffuse palmoplantar hyperkeratosis,... ORPHA:495
Pemphigus Vulgaris
Urticaria, Recurrent cutaneous abscess formation, Weight loss, Acantholysis ORPHA:704
Mycosis Fungoides
Pruritus, Erythema, Psoriasiform dermatitis, Eczema OMIM:254400
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Fragile skin ORPHA:542592
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin OMIM:308800
Familial Cold Autoinflammatory Syndrome 3
Pruritus, Angioedema, Erythema, Dermatographic urticaria, Cold urticaria OMIM:614468
Ichthyosis, Congenital, Autosomal Recessive 3
Hyperkeratosis, Erythema, Palmoplantar keratoderma OMIM:606545
Alg8-Cdg
Failure to thrive, Abnormality of subcutaneous fat tissue, Small for gestational age, Edema, Hydr... ORPHA:79325
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Familial Cold Urticaria
Pruritus, Urticaria, Erythema, Dehydration ORPHA:47045
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lack of facial subcuta... ORPHA:90156
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Pustule, Perioral erythema, Erythroderma, Failure to thrive OMIM:614328
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Skin ulcer,... ORPHA:90280
Sydenham Chorea
Erythema ORPHA:306731
Psoriasis 14, Pustular
Pustule, Erythema, Psoriasiform dermatitis, Parakeratosis OMIM:614204
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Erythema ORPHA:79099
Microphthalmia, Syndromic 8
Premature skin wrinkling OMIM:601349
Polyarteritis Nodosa
Erythema, Cutis marmorata, Skin ulcer, Weight loss ORPHA:767
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Erythema, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous abscess OMIM:147060
Prolidase Deficiency
Pruritus, Crusting erythematous dermatitis, Erythema, Skin ulcer, Hyperkeratosis, Cutaneous photo... ORPHA:742
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Peeling Skin Syndrome 5
Hyperkeratosis, Scaling skin OMIM:617115
Cog7-Cdg
Excessive wrinkled skin, Jaundice, Failure to thrive, Small for gestational age ORPHA:79333
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Facial erythema, Vasculitis in the skin, Malar rash OMIM:620321
Complex Regional Pain Syndrome
Dry skin, Edema of the upper limbs, Erythema, Pedal edema ORPHA:83452
Acrogeria
Telangiectasia of the skin, Excessive wrinkled skin, Prematurely aged appearance, Skin ulcer ORPHA:2500
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Lymphatic Malformation 4
Hyperkeratosis, Prominent superficial veins, Pedal edema, Lymphedema OMIM:615907
Chronic Mucocutaneous Candidiasis
Skin rash, Pruritus, Erythema, Skin ulcer, Hyperkeratosis ORPHA:1334
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender build, Failure to thrive, Small for gestational age, Progeroid facial appearance ORPHA:50811
Pulmonary Blastoma
Weight loss ORPHA:64741
Moynahan Syndrome
Hyperkeratosis, Cachexia ORPHA:2574
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Death in infancy, Dry skin, Urticaria, Failure to thrive ORPHA:1954
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin OMIM:602723
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Palmoplantar keratoderma, Facial erythema OMIM:612843
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Ascites, Palmoplantar keratoderma ORPHA:2198
Fixed Drug Eruption
Erythema, Crusting erythematous dermatitis, Generalized abnormality of skin ORPHA:293812
Ichthyosis, Congenital, Autosomal Recessive 2
Hyperkeratosis, Erythema, Palmoplantar keratoderma OMIM:242100
Nodular Non-Suppurative Panniculitis
Erythema, Edema, Weight loss ORPHA:33577
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Polyhydramnios, Edema, Pericardial effusion, Large for gestational a... ORPHA:363705
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Eczematoid dermatit... OMIM:259100
Reticular Dysgenesis
Skin rash, Skin ulcer, Dehydration, Weight loss, Failure to thrive ORPHA:33355
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Skin rash, Cutis marmorata, Pustule, Erythema, Livedo reticularis, Telangiecta... OMIM:615934
Xeroderma Pigmentosum, Complementation Group F
Cutaneous photosensitivity, Erythema, Decreased body weight OMIM:278760
Acute Myelomonocytic Leukemia
Pallor, Weight loss ORPHA:517
Subcorneal Pustular Dermatosis
Pruritus, Erythema, Pustule ORPHA:48377
Acrodermatitis Enteropathica
Failure to thrive, Pustule, Erythema, Skin ulcer, Weight loss, Dry skin, Generalized abnormality ... ORPHA:37
Pituitary Adenoma 4, Acth-Secreting
Edema, Poor wound healing, Obesity, Facial erythema, Abdominal obesity, Ecchymosis, Bruising susc... OMIM:219090
Tuberculosis
Weight loss ORPHA:3389
Glutamine Deficiency, Congenital
Neonatal death, Erythema OMIM:610015
Neutrophilic Dermatosis, Acute Febrile
Cystic acne, Erythema, Pyoderma gangrenosum, Acne inversa OMIM:608068
Snakebite Envenomation
Ecchymosis, Angioedema, Erythema, Edema ORPHA:449285
Odontoonychodermal Dysplasia
Plantar hyperkeratosis, Erythema, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, Orthoke... OMIM:257980
Myoclonic-Astatic Epilepsy
Premature skin wrinkling ORPHA:1942
Bazex Syndrome
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin ORPHA:166113
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Skin ulcer, Palmoplantar keratoderma ORPHA:659
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Angioedema, Erythema, Weight loss, Erythroderma ORPHA:139402
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Cachexia, Lack of skin elasticity, Weight loss, Premature gr... ORPHA:1979
Short Syndrome
Premature skin wrinkling, Small for gestational age, Prominent superficial veins OMIM:269880
Cutis Laxa, Autosomal Dominant 3
Premature skin wrinkling, Cutis laxa, Dermal translucency OMIM:616603
Angioedema, Hereditary, 1
Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema, Erythema OMIM:106100
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin, Folli... OMIM:616295
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Erythroderma, Orthokeratos... OMIM:612281
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin ORPHA:461
Geroderma Osteodysplasticum
Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Progeroid facial appearance, ... OMIM:231070
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Lichen Planus Pemphigoides
Pruritus, Skin vesicle, Hyperkeratosis ORPHA:254478
Chronic Hiccup
Dehydration, Weight loss ORPHA:396
Juvenile Dermatomyositis
Skin rash, Palpebral edema, Telangiectasia of the skin, Pruritus, Erythema, Skin ulcer, Weight lo... ORPHA:93672
Intestinal Dysmotility Syndrome
Failure to thrive, Polyhydramnios, Weight loss OMIM:620045
Peeling Skin Syndrome 4
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin OMIM:607936
Immunoglobulin A Vasculitis
Skin rash, Edema, Pustule, Angioedema, Erythema, Skin ulcer, Urticaria, Bruising susceptibility, ... ORPHA:761
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Ascites, Facial erythema ORPHA:284227
Fountain Syndrome
Cutis marmorata, Spina bifida, Facial edema, Erythema, Spina bifida occulta ORPHA:3219
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Galactose Epimerase Deficiency
Jaundice, Weight loss ORPHA:79238
Sunct Syndrome
Facial edema, Palpebral edema, Flushing, Facial erythema ORPHA:57145
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema OMIM:618307
Idiopathic Achalasia
Weight loss ORPHA:930
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Aicardi-Goutieres Syndrome 1
Chilblains, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper... OMIM:620014
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Urticaria, Erythema, Purpura ORPHA:343
Nicolaides-Baraitser Syndrome
Excessive wrinkled skin, Eczema ORPHA:3051
Adult-Onset Still Disease
Pruritus, Joint swelling, Erythema, Skin rash ORPHA:829
Ataxia-Telangiectasia
Telangiectasia of the skin, Prematurely aged appearance, Premature graying of hair, Failure to th... ORPHA:100
Cog5-Cdg
Premature skin wrinkling, Oligohydramnios ORPHA:263487
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Failure to thrive, Redundant skin, Lack of skin elasticity, Excessiv... OMIM:612940
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis, White scaling skin OMIM:604777
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Pruritus, Erythema, Urticaria, Skin vesicle, Failure to thrive ORPHA:2135
Keratoderma Hereditarium Mutilans With Ichthyosis
Scaling skin on fingertip, Parakeratosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyp... ORPHA:79395
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Dry skin, Prematurely aged appearance ORPHA:2617
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Redundant skin, Cutis laxa, Umb... ORPHA:2963
Immunodeficiency 23
Eczema, Erythema, Chronic mucocutaneous candidiasis, Vasculitis in the skin, Molluscum contagiosu... OMIM:615816
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Dry skin, Perianal erythema, Perioral erythema OMIM:201100
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion, Discoid lupus rash, Hyperkeratosis, Cutaneous photosensitivity, Vasculitis i... ORPHA:163525
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca... ORPHA:294023
Microscopic Polyangiitis
Cutis marmorata, Skin rash, Erythema, Skin ulcer, Subcutaneous hemorrhage ORPHA:727
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Recurrent skin infections, Erythema, Palmoplantar keratoderma, Generalized abn... ORPHA:79396
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Pruritus, Weight loss ORPHA:86893
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Eczema, Pustule, Erythema, Xerostomia, Skin ulcer, Palmoplantar hyper... ORPHA:2907
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Poor wound healing, Meningocele, Facial erythema, Palmoplantar keratoderma, Scaling skin, Dry skin ORPHA:1010
Lamellar Ichthyosis
Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Erythroderma, Dry skin ORPHA:313
Proteasome-Associated Autoinflammatory Syndrome 4
Erythema, Edema OMIM:619183
Arthrogryposis Multiplex Congenita 5
Umbilical hernia, Premature skin wrinkling, Polyhydramnios, Death in infancy OMIM:618947
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Erythema, Hyperkeratosis, Stillbirth, Orthokeratosis, Umbilical hernia OMIM:308050
Werner Syndrome
Prematurely aged appearance, Telangiectasia of the skin, Miscarriage, Lack of skin elasticity, Sk... ORPHA:902
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Erythema, Hydrops fetalis, Dehydration, Death in childhood, Pallor, St... OMIM:557000
Irida Syndrome
Hyperkeratosis, Pallor ORPHA:209981
Mednik Syndrome
Neonatal death, Death in infancy, Erythema, Death in childhood OMIM:609313
Huntington Disease-Like 2
Weight loss ORPHA:98934
Xeroderma Pigmentosum
Conjunctival telangiectasia, Failure to thrive, Telangiectasia of the skin, Erythema, Telangiecta... ORPHA:910
Toxic Epidermal Necrolysis
Weight loss, Erythema, Skin ulcer, Acantholysis ORPHA:537
Lig4 Syndrome
Cutaneous photosensitivity, Erythema, Telangiectasia of the skin ORPHA:99812
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Erythema, Skin rash, Cerebral edema, Death in childhood OMIM:618321
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Prematurely aged appearance, Cachexia, Dry skin, Urticaria, Cutaneous photosensitivity ORPHA:220295
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Erythema OMIM:614878
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Failure to thrive, Small for gestational age, Progeroid facial appearance OMIM:608154
Xfe Progeroid Syndrome
Failure to thrive, Prematurely aged appearance, Cachexia, Dry skin, Death in adolescence, Ascites... OMIM:610965
Fg Syndrome Type 1
Umbilical hernia, Slender build, Facial wrinkling ORPHA:93932
Pseudoxanthoma Elasticum
Acne, Skin rash, Telangiectasia of the skin, Pruritus, Lack of skin elasticity, Excessive wrinkle... ORPHA:758
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Death in infancy, Prominent superficial veins, Prematurely a... OMIM:612289
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Incontinentia Pigmenti
Skin rash, Telangiectasia of the skin, Erythema, Skin ulcer, Hyperkeratosis, Umbilical hernia, Sp... ORPHA:464
Corneodermatoosseous Syndrome
Erythema, Palmoplantar keratoderma ORPHA:3194
Stuve-Wiedemann Syndrome 1
Death in infancy, Premature skin wrinkling, Oligohydramnios OMIM:601559
Eosinophilic Fasciitis
Muscular edema, Acrocyanosis, Edema, Weight loss ORPHA:3165
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Hypercholesterolemia, Premature skin wrinkling, Hypertriglyceridemia ORPHA:363618
Laron Syndrome
Hypercholesterolemia, Prematurely aged appearance, Truncal obesity ORPHA:633
Keppen-Lubinsky Syndrome
Progeroid facial appearance, Premature skin wrinkling, Failure to thrive, Polyhydramnios ORPHA:435628
Nicolaides-Baraitser Syndrome
Eczema, Excessive wrinkled skin, Periorbital wrinkles, Umbilical hernia, Premature skin wrinkling... OMIM:601358
Stevens-Johnson Syndrome
Weight loss, Erythema, Acantholysis ORPHA:36426
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Bruising susceptibility, Pallor, Lymphedema ORPHA:3226
Dermatomyositis
Telangiectasia of the skin, Edema, Periorbital edema, Pruritus, Erythema, Skin ulcer, Weight loss... ORPHA:221
Gcgr-Related Hyperglucagonemia
Necrolytic migratory erythema ORPHA:438274
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Failure to thrive, Hypertriglyceridemia, Decreased adipose t... OMIM:606721
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis OMIM:604117
Chikungunya
Maculopapular exanthema, Skin rash, Facial edema, Erythema nodosum, Pruritus, Crusting erythemato... ORPHA:324625
Cutis Laxa, Autosomal Recessive, Type Iia
Excessive wrinkled skin, Failure to thrive, Redundant skin, Cutis laxa OMIM:219200
Incontinentia Pigmenti
Hyperkeratosis, Erythema, Maculopapular exanthema, Pallor OMIM:308300
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Follicular Lymphoma
Pleural effusion, Weight loss, Lymphedema ORPHA:545
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... OMIM:619208
Cardiofaciocutaneous Syndrome
Failure to thrive in infancy, Redundant skin, Lymphedema, Hyperkeratosis, Excessive wrinkled skin... ORPHA:1340
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Thanatophoric Dysplasia Type 1
Excessive wrinkled skin, Increased nuchal translucency, Redundant skin, Polyhydramnios ORPHA:1860
Focal Facial Dermal Dysplasia 3, Setleis Type
Aged leonine appearance OMIM:227260
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Redundant neck skin, Redundant skin, Abnormal subcutaneous fat tissue distribution, Prominent vei... ORPHA:357074
Isaacs Syndrome
Weight loss ORPHA:84142
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Focal Facial Dermal Dysplasia Type Iii
Prematurely aged appearance, Redundant skin ORPHA:1807
Wilson Disease
Failure to thrive, Pruritus, Jaundice, Increased body weight, Weight loss, Joint swelling, Bruisi... ORPHA:905
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Excessive wrinkled skin, Failure to thrive ORPHA:3322
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Central Diabetes Insipidus
Failure to thrive, Dehydration, Weight loss ORPHA:178029
Barber-Say Syndrome
Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency OMIM:209885
Vipoma
Erythema, Dehydration, Intermittent jaundice, Weight loss, Increased circulating cortisol level, ... ORPHA:97282
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Subungual hyperkeratosis, Death in infancy, Recurrent skin infections, Eczema, Perianal erythema,... OMIM:308205
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Excessive wrinkled skin ORPHA:137608
Riddle Syndrome
Conjunctival telangiectasia, Erythema, Weight loss, Telangiectasia, Scaling skin ORPHA:420741
Leishmaniasis
Pallor, Skin ulcer, Weight loss ORPHA:507
Benign Recurrent Intrahepatic Cholestasis
Pruritus, Jaundice, Weight loss ORPHA:65682
Rothmund-Thomson Syndrome Type 2
Plantar hyperkeratosis, Small for gestational age, Facial edema, Erythema, Facial erythema ORPHA:221016
Autosomal Recessive Cutis Laxa Type 2A
Excessive wrinkled skin, Progeroid facial appearance ORPHA:357058
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Ifap Syndrome 2
Perioral erythema OMIM:619016
Acquired Partial Lipodystrophy
Progeroid facial appearance ORPHA:79087
Kindler Epidermolysis Bullosa
Recurrent skin infections, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Cutaneous photosen... ORPHA:2908
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Short Syndrome
Excessive wrinkled skin, Weight loss ORPHA:3163
Kikuchi-Fujimoto Disease
Skin rash, Palpebral edema, Pruritus, Pustule, Erythema, Weight loss, Cutaneous photosensitivity,... ORPHA:50918
Non-Functioning Paraganglioma
Weight loss, Pallor, Flushing ORPHA:94080
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Skin rash, Skin ulcer, Weight loss, Failure to thrive ORPHA:47
Cutis Laxa, Autosomal Recessive, Type Iiib
Excessive wrinkled skin, Prominent superficial veins, Cutis laxa, Dermal translucency OMIM:614438
Familial Tumoral Calcinosis
Erythema, Skin rash ORPHA:53715
Glucagonoma
Skin rash, Necrolytic migratory erythema, Pruritus, Intermittent jaundice, Weight loss, Increased... ORPHA:97280
Cataract-Intellectual Disability-Hypogonadism Syndrome
Prematurely aged appearance ORPHA:1387
Mulibrey Nanism
Cachexia ORPHA:2576
Congenital Muscular Dystrophy Due To Lmna Mutation
Death in infancy, Cachexia ORPHA:157973
Aggressive Systemic Mastocytosis
Maculopapular exanthema, Pruritus, Weight loss, Urticaria, Ascites, Flushing ORPHA:98850
De Barsy Syndrome
Progeroid facial appearance, Prominent veins on trunk, Cutis laxa, Excessive wrinkled skin, Umbil... ORPHA:2962
Autosomal Dominant Cutis Laxa
Redundant neck skin, Prematurely aged appearance, Redundant skin, Cutis laxa, Premature skin wrin... ORPHA:90348
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Hypercalcemia, Infantile, 1
Failure to thrive, Dehydration, Weight loss OMIM:143880
Ehlers-Danlos Syndrome, Classic-Like, 2
Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Umb... OMIM:618000
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Redundant neck skin, Weight loss ORPHA:1842
Warburg-Cinotti Syndrome
Poor wound healing, Joint swelling, Erythema, Follicular hyperkeratosis OMIM:618175
Behcet Syndrome
Erythema nodosum, Erythema OMIM:109650
Pleural Mesothelioma
Pleural effusion, Weight loss ORPHA:50251
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Chime Syndrome
Hyperkeratosis, Erythema, Skin ulcer ORPHA:3474
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Cachexia, Cutaneous photosensitivity, Premature skin wrinkli... ORPHA:191
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Pustule, Glucocortocoid-insensitive primary hyperaldosteronism, Ato... ORPHA:171876
Bloom Syndrome
Small for gestational age, Malar rash, Facial erythema, Cutaneous photosensitivity, Facial telang... OMIM:210900
Idiopathic Chronic Eosinophilic Pneumonia
Pleural effusion, Generalized abnormality of skin, Atopic dermatitis, Weight loss ORPHA:2902
Rothmund-Thomson Syndrome Type 1
Plantar hyperkeratosis, Small for gestational age, Facial edema, Telangiectasia, Facial erythema ORPHA:221008
Campomelia, Cumming Type
Death in infancy, Prematurely aged appearance, Lymphedema, Hydrops fetalis, Oligohydramnios ORPHA:1318
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Weight loss ORPHA:86884
Huntington Disease-Like 2
Weight loss OMIM:606438
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Edema, Dehydration ORPHA:103910
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Skin rash, Edema, Pruritus, Weight loss, Palmoplantar pustulosis ORPHA:324964
Ogden Syndrome
Redundant neck skin, Prematurely aged appearance, Redundant skin, Eczema, Lymphedema, Facial wrin... OMIM:300855
Primary Myelofibrosis
Cachexia, Pallor, Ecchymosis, Petechiae, Purpura ORPHA:824
Pseudomyxoma Peritonei
Ascites, Weight loss ORPHA:26790
Takayasu Arteritis
Skin ulcer, Weight loss ORPHA:3287
Eosinophilic Gastroenteritis
Edema, Atopic dermatitis, Weight loss, Steatorrhea, Ascites ORPHA:2070
Congenital Disorder Of Glycosylation, Type Iie
Excessive wrinkled skin, Jaundice, Failure to thrive, Death in infancy OMIM:608779
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Prominent scalp veins, Failure to thrive, Hypertriglyceridem... OMIM:264090
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased body weight... ORPHA:1501
Classic Hodgkin Lymphoma
Pruritus, Skin rash, Weight loss ORPHA:391
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Flynn-Aird Syndrome
Cachexia, Skin ulcer ORPHA:2047
Malignant Peritoneal Mesothelioma
Ascites, Pedal edema, Weight loss ORPHA:168811
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Poor wound healing, Excessive wrinkled skin, Follicular hyperkeratosis, Palmoplantar cutis laxa, ... OMIM:225400
Opitz-Kaveggia Syndrome
Umbilical hernia, Facial wrinkling OMIM:305450
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Skin rash, Periorbital edema, Erythema, Bruising susceptibility, Erysipelas ORPHA:32960
Thymic Carcinoma
Palpebral edema, Edema, Weight loss ORPHA:99868
Premature Aging Syndrome, Penttinen Type
Prominent superficial veins, Prematurely aged appearance, Palmoplantar hyperkeratosis, Corneal st... OMIM:601812
Acute Promyelocytic Leukemia
Weight loss, Ecchymosis, Bruising susceptibility, Petechiae, Purpura ORPHA:520
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Lack of skin elasticity, Weight loss, Severe failu... ORPHA:740
Majeed Syndrome
Inflammatory abnormality of the skin, Acne, Cachexia, Edema, Pustule, Weight loss, Failure to thrive ORPHA:77297
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Focal Dermal Hypoplasia
Umbilical hernia, Erythema, Telangiectasia of the skin, Spina bifida ORPHA:2092
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Erythema, Jaundice, Weight loss ORPHA:913
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Prominent scalp veins, Hypertriglyceridemia, Recurrent skin ... ORPHA:3455
Familial Mediterranean Fever
Skin rash, Erythema, Pedal edema, Ascites, Erysipelas ORPHA:342
Juvenile Huntington Disease
Weight loss ORPHA:248111
Localized Scleroderma
Erythema ORPHA:90289
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Progeroid facial appearance, Erythema nodosum, Erythema, Death in adolescen... OMIM:256040
Melas
Failure to thrive, Erythema ORPHA:550
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Werner Syndrome
Hypertriglyceridemia, Prematurely aged appearance, Progeroid facial appearance, Subcutaneous calc... OMIM:277700
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Prematurely aged appearance, Lack of skin elasticity, Progeroid facial appearance ORPHA:90153
Yao Syndrome
Xerostomia, Inflammatory abnormality of the skin, Skin rash, Weight loss OMIM:617321
Kaposi Sarcoma
Weight loss, Skin rash, Lymphedema ORPHA:33276
Recon Progeroid Syndrome
Progeroid facial appearance, Livedo reticularis, Dry skin, Scaling skin, Cutaneous photosensitivity OMIM:620370
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Cutis marmorata, Weight loss, Urticaria, Acrocyanosis, Purpura ORPHA:183
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Christianson Syndrome
Death in early adulthood, Cachexia ORPHA:85278
Osteosarcoma
Joint swelling, Weight loss ORPHA:668
Dermatosparaxis Ehlers-Danlos Syndrome
Excessive wrinkled skin, Abnormality of subcutaneous fat tissue ORPHA:1901
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Progeroid facial appearance, Cutis laxa ORPHA:75496
Aicardi-Goutieres Syndrome 9
Failure to thrive, Chilblains, Edema, Pericardial effusion, Weight loss, Ascites, Dry skin OMIM:619487
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Ablepharon-Macrostomia Syndrome
Premature skin wrinkling, Dry skin, Redundant skin OMIM:200110
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Cachexia, Polyhydramnios OMIM:618186
Trichothiodystrophy 5, Nonphotosensitive
Cutaneous photosensitivity, Cutis marmorata, Progeroid facial appearance OMIM:300953
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Erythema OMIM:614653
Chronic Graft Versus Host Disease
Poor wound healing, Erythema, Xerostomia, Skin ulcer, Weight loss, Skin vesicle, Pleural effusion... ORPHA:99921
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut... OMIM:123700
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Prominent veins on trunk, Weight loss ORPHA:97289
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Wrinkly Skin Syndrome
Redundant skin, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet, Palmoplant... OMIM:278250
Progeria-Short Stature-Pigmented Nevi Syndrome
Small for gestational age, Prematurely aged appearance, Lack of facial subcutaneous fat, Progeroi... ORPHA:2959
Wolman Disease
Ascites, Cachexia, Steatorrhea ORPHA:75233
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Beta-Ketothiolase Deficiency
Weight loss, Pallor, Edema, Dehydration ORPHA:134
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion, Weight loss ORPHA:411703
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Eczema, Erythema, Urticaria, Hyperkeratosis, Failure to thrive ORPHA:2273
Holocarboxylase Synthetase Deficiency
Weight loss, Eczema, Perioral eczema ORPHA:79242
Mast Cell Sarcoma
Weight loss ORPHA:66661
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Prog... OMIM:608612
Desmoplastic Small Round Cell Tumor
Ascites, Cachexia, Weight loss ORPHA:83469
Blau Syndrome
Skin rash, Erythema nodosum, Erythema, Xerostomia, Skin ulcer, Joint swelling, Dry skin ORPHA:90340
Focal Myositis
Weight loss ORPHA:48918
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pruritus, Weight loss, Urticaria, Pallor, Flushing ORPHA:98849
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Pfapa Syndrome
Weight loss ORPHA:42642
Bronchial Neuroendocrine Tumor
Increased circulating cortisol level, Dermatological manifestations of systemic disorders, Facial... ORPHA:97287
Rat-Bite Fever
Skin rash, Maculopapular exanthema, Erythema nodosum, Pustule, Weight loss, Scaling skin, Morbill... ORPHA:31205
Secondary Short Bowel Syndrome
Weight loss, Failure to thrive, Dehydration, Steatorrhea ORPHA:95427
Mcdonough Syndrome
Cachexia ORPHA:2471
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Poems Syndrome
Edema, Pericardial effusion, Abnormality of skin physiology, Weight loss, Acrocyanosis, Pleural e... ORPHA:2905
Perry Syndrome
Weight loss ORPHA:178509
Wild Type Attr Amyloidosis
Pleural effusion, Weight loss, Pedal edema, Pulmonary edema ORPHA:330001
Cryptogenic Organizing Pneumonia
Cyanosis, Weight loss ORPHA:1302
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cutaneous photosensitivity, Cachexia, Steatorrhea ORPHA:3217
Congenital Tufting Enteropathy
Weight loss, Failure to thrive, Dehydration, Steatorrhea ORPHA:92050
Urachal Cyst
Erythema ORPHA:488
Geroderma Osteodysplastica
Prematurely aged appearance, Redundant skin ORPHA:2078
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Pallor, Flushing ORPHA:276621
Imerslund-Gräsbeck Syndrome
Failure to thrive, Pallor, Weight loss ORPHA:35858
Osteootohepatoenteric Syndrome
Pruritus, Dehydration, Weight loss, Prolonged neonatal jaundice, Failure to thrive OMIM:619377
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
X-Linked Creatine Transporter Deficiency
Redundant skin, Cachexia ORPHA:52503
19Q13.11 Microdeletion Syndrome
Failure to thrive, Dry skin, Cachexia ORPHA:217346
Scorpion Envenomation
Purpura, Erythema, Edema, Pulmonary edema ORPHA:466677
Huntington Disease-Like 1
Weight loss ORPHA:157941
Atypical Werner Syndrome
Prominent superficial veins, Hypertriglyceridemia, Prematurely aged appearance, Telangiectasia of... ORPHA:79474
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Prematurely aged appearance, Progeroid facial appearance ORPHA:90154
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Failure to thrive, Fetal ascites, Erythema, Atopic dermatiti... OMIM:619503
Simple Cryoglobulinemia
Weight loss, Cold urticaria, Acral ulceration, Vascular skin abnormality, Purpura ORPHA:91139
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Ectodermal dysplasia, Dry skin, Xerostomia, Periorbital wrinkles OMIM:614941
Down Syndrome
Umbilical hernia, Prematurely aged appearance, Obesity ORPHA:870
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Rhabdoid Tumor
Weight loss ORPHA:69077
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Hypohidrotic ectodermal dysplasia, Periorbital wrinkles OMIM:224900
Systemic Capillary Leak Syndrome
Pleural effusion, Weight loss, Pedal edema, Pulmonary edema ORPHA:188
Lysosomal Acid Lipase Deficiency
Failure to thrive, Hypertriglyceridemia, Cachexia, Pruritus, Jaundice, Dehydration, Weight loss, ... ORPHA:275761
Glucose-Galactose Malabsorption
Failure to thrive, Dehydration, Weight loss ORPHA:35710
Budd-Chiari Syndrome
Jaundice, Ascites, Weight loss ORPHA:131
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Erythema, Subcutaneous lipoma ORPHA:276152
Polycythemia Vera
Pruritus, Bruising susceptibility, Weight loss ORPHA:729
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Weight loss, Pleural effusion, Ascites, Generalized edema ORPHA:90362
Peripheral Primitive Neuroectodermal Tumor
Pruritus, Jaundice, Ascites, Weight loss ORPHA:370348
3-Hydroxy-3-Methylglutaric Aciduria
Edema, Jaundice, Dehydration, Weight loss, Pallor ORPHA:20
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Failure to thrive, Prematurely aged appearance, Small for ge... OMIM:133540
Noonan Syndrome With Multiple Lentigines
Excessive wrinkled skin, Spina bifida occulta ORPHA:500
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Polyhydramnios ORPHA:2774
Gapo Syndrome
Umbilical hernia, Palpebral edema, Prematurely aged appearance ORPHA:2067
Immunodeficiency 27A
Weight loss OMIM:209950
Sympathetic Ophthalmia
Erythema, Macular edema ORPHA:79098
Kawasaki Disease
Palmoplantar erythema, Jaundice, Skin rash, Edema ORPHA:2331
Hermansky-Pudlak Syndrome
Hyperkeratosis, Bruising susceptibility, Weight loss ORPHA:79430
Seckel Syndrome
Prematurely aged appearance, Cachexia ORPHA:808
Renpenning Syndrome
Cachexia ORPHA:3242
Reactive Arthritis
Pustule, Joint swelling, Hyperkeratosis, Weight loss ORPHA:29207
Trichothiodystrophy
Congenital exfoliative erythroderma, Prematurely aged appearance, Eczema, Cutaneous photosensitiv... ORPHA:33364
Cronkhite-Canada Syndrome
Cachexia, Lymphedema ORPHA:2930
Late-Onset Isolated Acth Deficiency
Failure to thrive, Decreased circulating cortisol level, Dry skin, Weight loss ORPHA:199299
Ataxia-Telangiectasia-Like Disorder 2
Conjunctival telangiectasia, Progeroid facial appearance, Cutaneous photosensitivity, Cutaneous t... OMIM:615919
Scleromyxedema
Pruritus, Generalized abnormality of skin, Aged leonine appearance ORPHA:167635
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Progeroid facial appearance OMIM:617763
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Rheumatoid Arthritis
Joint swelling, Weight loss OMIM:180300
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Redundant skin, Progeroid facial appearance, Periorbital edema, Cutis laxa, Dea... OMIM:613177
Ablepharon Macrostomia Syndrome
Excessive wrinkled skin, Dry skin, Umbilical hernia, Redundant skin ORPHA:920
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss, Petechiae, Purpura ORPHA:85450
Primary Hepatic Neuroendocrine Carcinoma
Weight loss, Ascites, Facial telangiectasia, Intermittent jaundice ORPHA:100085
Relapsing Polychondritis
Erythema, Purpura ORPHA:728
Cushing Syndrome Due To Ectopic Acth Secretion
Plethora, Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Poor ... ORPHA:99889
Cap Polyposis
Weight loss ORPHA:160148
Ménétrier Disease
Peripheral edema, Weight loss ORPHA:2494
Pneumocystosis
Pleural effusion, Weight loss, Chronic oral candidiasis ORPHA:723
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Excessive wrinkled skin, Failure to thrive, Prematurely aged... OMIM:619950
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Bruising susceptibility, Progeroid facial appearance, Oligoh... OMIM:616914
Microphthalmia With Linear Skin Defects Syndrome
Failure to thrive, Erythema ORPHA:2556
Liposarcoma
Weight loss ORPHA:69078
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Progeroid facial appearance ORPHA:412057
Klatskin Tumor
Jaundice, Weight loss ORPHA:99978
Arterial Tortuosity Syndrome
Progeroid facial appearance, Cutis laxa, Umbilical hernia, Bruising susceptibility, Telangiectase... OMIM:208050
Chronic Beryllium Disease
Weight loss ORPHA:133
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Neuroendocrine Tumor Of The Colon
Facial telangiectasia, Weight loss ORPHA:100080
Hereditary Pheochromocytoma-Paraganglioma
Weight loss, Pallor, Flushing ORPHA:29072
Familial Thrombocytosis
Pruritus, Miscarriage, Weight loss ORPHA:71493
Celiac Disease, Susceptibility To, 1
Weight loss, Failure to thrive, Eczema, Steatorrhea OMIM:212750
Malignant Atrophic Papulosis
Pleural effusion, Telangiectasia of the skin, Weight loss ORPHA:679
Cystic Echinococcosis
Urticaria, Jaundice, Weight loss ORPHA:400
Al Amyloidosis
Peripheral edema, Xerostomia, Bruising susceptibility, Weight loss ORPHA:85443
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Q Fever
Maculopapular exanthema, Pericardial effusion, Weight loss, Pleural effusion, Purpura ORPHA:781
Gm1 Gangliosidosis
Failure to thrive, Hydrops fetalis, Weight loss ORPHA:354
Wrinkly Skin Syndrome
Excessive skin wrinkling on dorsum of hands and fingers, Prominent veins on trunk, Cutis laxa, Ex... ORPHA:2834
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Acute Monoblastic/Monocytic Leukemia
Periorbital edema, Weight loss ORPHA:514
Giant Cell Arteritis
Skin ulcer, Weight loss ORPHA:397
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Recurrent skin infections, Eczema,... ORPHA:37042
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Lymphoid Interstitial Pneumonia
Failure to thrive, Skin rash, Eczema, Weight loss ORPHA:79128
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Prominent superficial veins, Dry skin, Progeroid facial appearance OMIM:614008
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Tetrasomy 12P
Cachexia ORPHA:884
Acute Adrenal Insufficiency
Failure to thrive, Decreased circulating cortisol level, Dry skin, Weight loss ORPHA:95409
Refractory Celiac Disease
Inflammatory abnormality of the skin, Weight loss ORPHA:398063
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Prematurely aged appearance, Redundant skin ORPHA:3342
Neuroendocrine Tumor Of The Rectum
Facial telangiectasia, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Facial telangiectasia, Weight loss ORPHA:100082
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Progeroid facial appearance, Premature... ORPHA:280365
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Failure to thrive, Prematurely aged appearance, Progeroid fa... OMIM:216400
Gallbladder Neuroendocrine Tumor
Weight loss, Ascites, Intermittent jaundice ORPHA:100086
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Aicardi-Goutieres Syndrome 7
Skin rash, Chilblains, Edema, Pericardial effusion, Atopic dermatitis, Weight loss, Urticaria, Ol... OMIM:615846
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Bannayan-Riley-Ruvalcaba Syndrome
Cutis marmorata, Cachexia, Lymphedema, Telangiectasia, Subcutaneous hemorrhage ORPHA:109
Cockayne Syndrome Type 2
Progeroid facial appearance ORPHA:90322
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Saul-Wilson Syndrome
Prominent superficial veins, Progeroid facial appearance OMIM:618150
Caroli Disease
Pruritus, Jaundice, Ascites, Weight loss ORPHA:53035
Nephroblastoma
Weight loss ORPHA:654
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Weight loss ORPHA:747
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Palpable purpura, Cutis marmorata, Weight loss, Vasculitis ... ORPHA:48435
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Erythema, Fragile skin OMIM:614748
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Bruising susceptibility, Joint swelling, Blephar... ORPHA:287
Perry Syndrome
Weight loss OMIM:168605
Chromosome Xp11.3 Deletion Syndrome
Progeroid facial appearance OMIM:300578
Cockayne Syndrome Type 1
Failure to thrive, Cutaneous photosensitivity, Progeroid facial appearance ORPHA:90321
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Granulomatosis With Polyangiitis
Skin ulcer, Weight loss OMIM:608710
Symptomatic Form Of Hfe-Related Hemochromatosis
Joint swelling, Weight loss ORPHA:465508
Somatostatinoma
Intermittent jaundice, Weight loss, Increased circulating cortisol level, Steatorrhea, Ascites, S... ORPHA:97283
Neuroendocrine Tumor Of Stomach
Dermatological manifestations of systemic disorders, Facial telangiectasia, Weight loss ORPHA:100075
Primary Sclerosing Cholangitis
Spider hemangioma, Pruritus, Jaundice, Dilated superficial abdominal veins, Weight loss, Palmar t... ORPHA:171
Ppoma