Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

NIPA-like domain containing 4

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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

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.

Phenotype associated images not available

Human diseases caused by Nipal4 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 Nipal4 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Nipal4 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Porokeratosis Plantaris Palmaris Et Disseminata
Pruritus, Hyperkeratotic papule, Palmoplantar hyperkeratosis, Porokeratosis ORPHA:737
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis OMIM:617574
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... OMIM:148730
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Porokeratosis ORPHA:735
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis OMIM:101900
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Hyperkeratosis, Thickened skin ORPHA:1659
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Aquagenic Palmoplantar Keratoderma
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... ORPHA:498359
Ulerythema Ophryogenesis
Miscarriage, Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, C... ORPHA:3406
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... OMIM:617571
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... OMIM:617526
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis ORPHA:79503
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... ORPHA:454
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplan... ORPHA:312
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin ORPHA:2812
Anonychia With Flexural Pigmentation
Hyperkeratosis, Follicular hyperkeratosis ORPHA:69125
Palmoplantar Keratoderma And Congenital Alopecia 2
Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly OMIM:212360
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule ORPHA:464318
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Hyperkeratosis, Failure to thrive, Palmoplantar hyperkeratosis ORPHA:89838
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery... ORPHA:64745
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis ORPHA:79399
Atrophoderma Vermiculata
Pruritus, Erythema, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin OMIM:146590
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ... ORPHA:90280
Classic Mycosis Fungoides
Skin rash, Eczema, Edema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin ORPHA:2584
Peeling Skin Syndrome 5
Hyperkeratosis, Scaling skin OMIM:617115
Erythrokeratodermia Variabilis
Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Weight loss, Hyperkeratosis, Dry skin ORPHA:317
Moynahan Syndrome
Hyperkeratosis, Cachexia ORPHA:2574
Superficial Epidermolytic Ichthyosis
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Ichthyosis ORPHA:455
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Scaling skin on fingertip, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis,... ORPHA:79395
Epidermolytic Palmoplantar Keratoderma
Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype... ORPHA:2199
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin, Ichthyosis ORPHA:461
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... ORPHA:79147
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Bazex Syndrome
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosi... ORPHA:166113
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Weight loss, Acantholysis ORPHA:704
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Edema, Acantholysis, Palmoplantar hyperkeratosis, Death in adolescence,... OMIM:605676
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:613943
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ichthyosis, Er... OMIM:612281
Irida Syndrome
Hyperkeratosis, Decreased circulating copper concentration, Pallor, Ichthyosis ORPHA:209981
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin OMIM:247100
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... OMIM:620148
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Cole Disease
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:615522
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa ORPHA:79148
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Inflammatory abnormality of the skin, Increased circulating free fatty acid lev... OMIM:610768
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Ichthyosis, Annular Epidermolytic, 1
Erythema, Hyperparakeratosis, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform eryth... OMIM:607602
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Peeling Skin Syndrome 4
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis OMIM:607936
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin OMIM:602723
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... OMIM:601952
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin, Folli... OMIM:616295
Hypotrichosis 6
Pruritus, Erythema, Follicular hyperkeratosis OMIM:607903
Lymphatic Malformation 4
Hyperkeratosis, Pedal edema, Lymphedema OMIM:615907
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Hyperkeratosis, Ichthyosis, Scaling skin, Congenital nonbullous ichthyosiform erythrode... OMIM:614457
Sjögren-Larsson Syndrome
Hyperkeratosis, Erythema, Dry skin, Ichthyosis ORPHA:816
Lichen Planus Pemphigoides
Skin vesicle, Hyperkeratosis, Pruritus ORPHA:254478
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Cobblestone-like hyperkeratosis, Palmopl... OMIM:602540
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis OMIM:618546
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis OMIM:615821
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythematous dermati... ORPHA:79481
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Death in adolescence, Hyper... OMIM:620014
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Ichthyosis, Pa... OMIM:615508
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... ORPHA:2200
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Decreased retinol-binding protein level, Follicular hyperkeratosis OMIM:615147
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma OMIM:133200
Lamellar Ichthyosis
Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Ichthyosis, Erythroderma, Dry skin ORPHA:313
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis ORPHA:89843
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Mednik Syndrome
Hyperkeratosis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper c... ORPHA:171851
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Acantholysis, Pruritus, Pustule, Skin vesicl... ORPHA:555905
Congenital Disorder Of Glycosylation, Type If
Death in infancy, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive OMIM:609180
Vulvovaginal Gingival Syndrome
Pruritus, Parakeratosis, Erythema ORPHA:83453
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Dry skin, Cutis laxa, Hyperkeratosis, Ichthyosis, Failure to thrive OMIM:612379
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... OMIM:604777
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta... OMIM:300918
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Erythema migrans, Skin vesicle ORPHA:158681
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... OMIM:606545
Schopf-Schulz-Passarge Syndrome
Hyperkeratosis, Palmoplantar keratoderma, Dry skin OMIM:224750
Keratoderma Hereditarium Mutilans
Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Ichthyosis ORPHA:494
Bathing Suit Ichthyosis
Parakeratosis, Thickened skin, Palmoplantar hyperkeratosis, Ichthyosis, Palmoplantar scaling skin... ORPHA:100976
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis OMIM:618625
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79151
Lichen Planopilaris
Pruritus, Hyperkeratosis, Skin ulcer ORPHA:525
Flynn-Aird Syndrome
Hyperkeratosis OMIM:136300
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Ascites, Palmoplantar keratoderma, Weight loss ORPHA:2198
Hypotrichosis Simplex Of The Scalp
Parakeratosis, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling skin ORPHA:90368
Darier Disease
Acrokeratosis, Pruritus, Thickened skin, Palmoplantar keratoderma, Skin vesicle, Subungual hyperk... ORPHA:218
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... OMIM:619208
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma OMIM:613576
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
White Sponge Nevus 2
Hyperparakeratosis, Edema OMIM:615785
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... OMIM:148700
Ramon Syndrome
Hyperkeratosis, Failure to thrive ORPHA:3019
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... OMIM:615023
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Darier-White Disease
Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis OMIM:124200
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Elevated circulating creatine kinase concentration, Follicular hyperkeratosis ORPHA:300179
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Eosinophilia, Acantholysis, Facial edema, Pruritus,... ORPHA:293173
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Overweight, Dry skin, Mildly elevated creatine kinase, Follicular hyperkeratosis ORPHA:486815
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Dowling-Degos Disease
Pruritus, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Acne inversa ORPHA:79145
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... ORPHA:2897
Ichthyosis Prematurity Syndrome
Polyhydramnios, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma OMIM:608649
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Proteus Syndrome
Hyperkeratosis OMIM:176920
Meige Disease
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... ORPHA:90186
Harlequin Ichthyosis
Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis ORPHA:457
Noonan Syndrome 8
Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Palmoplantar cutis laxa, Pleur... OMIM:615355
Acrokeratoelastoidosis Of Costa
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis ORPHA:38
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Cutis laxa, Generalized ichthyosis, Scaling skin, Dry skin, Generalized hyperkeratosis ORPHA:2269
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Ichthyosis, Congenital, Autosomal Recessive 2
Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar ke... OMIM:242100
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ... OMIM:242300
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin OMIM:618527
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin OMIM:308800
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... OMIM:614594
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Thickened skin, Lack of skin elasticity, Weight loss, Palmoplantar keratoderma, Abnorma... ORPHA:1979
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Hyperkeratosis, Malar rash, Psoriasiform lesion ORPHA:163525
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Leopard Syndrome 3
Hyperkeratosis, Dry skin, Epidermal hyperkeratosis OMIM:613707
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer ORPHA:36386
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death, Acantholysis OMIM:609638
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Plantar hyperkeratosis, Hyperkeratotic papule, Palmar hyperkeratosis ORPHA:79397
Warty Dyskeratoma
Acrokeratosis, Epidermal thickening, Acantholysis ORPHA:69745
Pemphigus Erythematosus
Malar rash, Acantholysis ORPHA:79480
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin ORPHA:1028
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Lymphedema ORPHA:79279
Lipoid Proteinosis
Pustule, Hyperkeratosis, Acne, Thickened skin ORPHA:530
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Hypophosphatemia ORPHA:2611
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Failure to thrive OMIM:615279
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas ORPHA:79452
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Elevated circulating C-reactive protein concentration, Pu... OMIM:614204
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:281090
Autoinflammation With Arthritis And Dyskeratosis
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Dry skin, Palmoplantar ... OMIM:617388
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Elevated circulating creatine kinase concentration, Dry skin, Hyperkeratosis, P... OMIM:614576
Netherton Syndrome
Hypernatremic dehydration, Parakeratosis, Recurrent skin infections, Eczema, Angioedema, Hypereos... OMIM:256500
Prolidase Deficiency
Pruritus, Erythema, Crusting erythematous dermatitis, Skin ulcer, Hyperkeratosis, Palmoplantar ke... ORPHA:742
Hidrotic Ectodermal Dysplasia
Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... ORPHA:189
Ichthyosis, Congenital, Autosomal Recessive 11
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:602400
Chronic Mucocutaneous Candidiasis
Skin rash, Pruritus, Erythema, Skin ulcer, Hyperkeratosis ORPHA:1334
Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato... ORPHA:182
Acute Radiation Syndrome
Hyperkeratosis, Inflammatory abnormality of the skin, Scaling skin, Skin ulcer ORPHA:454831
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Pulmonary Blastoma
Weight loss ORPHA:64741
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Palmoplantar keratoderma OMIM:616029
Costello Syndrome
Failure to thrive in infancy, Redundant skin, Polyhydramnios, Lack of skin elasticity, Hyperkerat... ORPHA:3071
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis ORPHA:1883
Follicular hyperkeratosis ORPHA:573
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Failure to thrive in infancy, Skin rash, Elevated circulating C-reactive protein concentration, P... OMIM:612852
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Follicular hyperkeratosis OMIM:613102
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hypercholesterolem... OMIM:610644
Gaucher Disease, Perinatal Lethal
Nonimmune hydrops fetalis, Polyhydramnios, Hyperkeratosis, Ichthyosis, Congenital nonbullous icht... OMIM:608013
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa OMIM:617337
Idiopathic Achalasia
Decreased prealbumin level, Weight loss ORPHA:930
Spinocerebellar Ataxia 34
Erythroderma, Epidermal hyperkeratosis OMIM:133190
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis ORPHA:1839
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis, Death in infancy ORPHA:163966
Pachyonychia Congenita
Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar keratoderma, Follicular h... ORPHA:2309
Hypohidrotic Ectodermal Dysplasia
Eczema, Xerostomia, Dry skin, Hyperkeratosis, Failure to thrive ORPHA:238468
Perifollicular hyperkeratosis OMIM:158000
Hidrotic Ectodermal Dysplasia, Halal Type
Follicular hyperkeratosis ORPHA:1809
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Skin ulcer ORPHA:1806
Trichothiodystrophy 1, Photosensitive
Death in infancy, Small for gestational age, Hyperkeratosis, Congenital nonbullous ichthyosiform ... OMIM:601675
Neonatal Lupus Erythematosus
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash ORPHA:398124
Naxos Disease
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... OMIM:601214
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Pruritus, Ichthyosis, Orthokeratosis, Dry skin OMIM:607626
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Skin rash, Elevated circulating creatine kinase concentration, Edema, Hyp... OMIM:604173
Weight loss ORPHA:3389
Tyrosinemia Type 2
Hyperkeratosis, Palmoplantar keratoderma ORPHA:28378
Ullrich Congenital Muscular Dystrophy 1
Failure to thrive, Slender build, Mildly elevated creatine kinase, Follicular hyperkeratosis OMIM:254090
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Lethal Acantholytic Erosive Disorder
Oligohydramnios, Acantholysis ORPHA:158687
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis OMIM:615225
Acute Myelomonocytic Leukemia
Eosinophilia, Pallor, Weight loss ORPHA:517
Reticular Dysgenesis
Skin rash, Dehydration, Skin ulcer, Weight loss, Failure to thrive ORPHA:33355
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Donohue Syndrome
Severe failure to thrive, Hyperkeratosis, Acanthosis nigricans OMIM:246200
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Epidermal hyperkeratosis, Dermal transluc... OMIM:137940
Odontoonychodermal Dysplasia
Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Follicular hyperk... OMIM:257980
Toxic Epidermal Necrolysis
Weight loss, Erythema, Skin ulcer, Acantholysis ORPHA:537
Sialidosis Type 1
Hyperkeratosis ORPHA:812
Intestinal Dysmotility Syndrome
Failure to thrive, Polyhydramnios, Weight loss OMIM:620045
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hyperkeratosis, Failure to thrive in infancy OMIM:301220
Werner Syndrome
Miscarriage, Lack of skin elasticity, Skin ulcer, Hyperkeratosis, Slender build ORPHA:902
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Skin vesicle, Pruritus, Hyperkeratotic papule, Palmoplantar keratoderma ORPHA:79410
Stevens-Johnson Syndrome
Weight loss, Erythema, Acantholysis ORPHA:36426
Insulin Autoimmune Syndrome
Acanthosis nigricans, Weight loss ORPHA:411593
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Elevated 8-dehydrocholesterol, Erythema, Elevated 8(9)-cholestenol, Hyperkeratosis... OMIM:308050
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin ORPHA:79431
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Edema, Atopic dermatitis, We... ORPHA:2070
Chronic Hiccup
Dehydration, Weight loss ORPHA:396
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism... ORPHA:171876
Pachyonychia Congenita 3
Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ... OMIM:615726
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Weight loss ORPHA:100083
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis ORPHA:2583
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hyperkeratosis, Ichthyosis ORPHA:1005
Cardiofaciocutaneous Syndrome
Failure to thrive in infancy, Redundant skin, Lymphedema, Excessive wrinkled skin, Hyperkeratosis... ORPHA:1340
Kanzaki Disease
Hyperkeratosis, Dry skin, Petechiae, Lymphedema OMIM:609242
Bethlem Myopathy
Hyperkeratosis, Elevated circulating creatine kinase concentration ORPHA:610
Arthrogryposis And Ectodermal Dysplasia
Hyperkeratosis, Dry skin OMIM:601701
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Hyperkeratosis, Recurrent bacterial skin infections, Ichthyosis OMIM:148210
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Pruritus, Palmoplantar keratoderma, Scaling skin, Follicu... ORPHA:158668
Huntington Disease-Like 2
Weight loss ORPHA:98934
Congenital Ichthyosiform Erythroderma
Pruritus, Erythroderma, Palmoplantar keratoderma, Ichthyosis, Failure to thrive ORPHA:79394
Failure to thrive, Generalized hyperkeratosis ORPHA:349
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Pruritus, Weight loss ORPHA:86893
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Reactive Arthritis
Pustule, Hyperkeratosis, Joint swelling, Weight loss ORPHA:29207
Central Diabetes Insipidus
Hyponatremia, Failure to thrive, Dehydration, Weight loss ORPHA:178029
Noonan Syndrome 10
Palmoplantar cutis laxa, Hyperkeratosis, Pleural effusion, Increased nuchal translucency OMIM:616564
Punctate Palmoplantar Keratoderma Type 1
Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperkera... ORPHA:79501
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... ORPHA:103910
Incontinentia Pigmenti
Maculopapular exanthema, Eosinophilia, Erythema, Hyperkeratosis, Pallor OMIM:308300
Noonan Syndrome 2
Palmoplantar cutis laxa, Hyperkeratosis, Increased nuchal translucency, Polyhydramnios OMIM:605275
Thickened skin, Hyperkeratosis, Hypokalemia, Hyperaldosteronism, Increased circulating renin leve... ORPHA:508
Bullous Pemphigoid
Erythema, Eczema, Psoriasiform dermatitis, Weight loss ORPHA:703
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hyperkeratosis, Lymphedema ORPHA:79280
Premature Aging Syndrome, Penttinen Type
Thickened skin, Palmoplantar hyperkeratosis, Corneal stromal edema, Hyperkeratosis, Failure to th... OMIM:601812
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased body weight... ORPHA:1501
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Skin rash, Skin ulcer, Weight loss, Hypocalcemia, Failure ... ORPHA:47
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Hyperkeratosis OMIM:620189
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Weight loss, Steatorrhea, F... ORPHA:95427
Hypoalbuminemia, Pallor, Skin ulcer, Weight loss ORPHA:507
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Ichthyosis, Failure to thrive OMIM:607721
Polyarteritis Nodosa
Elevated circulating C-reactive protein concentration, Erythema, Skin ulcer, Weight loss ORPHA:767
Acquired Hypertrichosis Lanuginosa
Ichthyosis, Thickened skin, Acanthosis nigricans, Weight loss ORPHA:2221
Bone Marrow Failure Syndrome 3
Hyperkeratosis, Failure to thrive, Eczema OMIM:617052
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Dehydration, Weight loss OMIM:143880
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Subungual hyperkeratosis, Death in infancy, Perianal erythema, Eczema, R... OMIM:308205
Hermansky-Pudlak Syndrome
Hyperkeratosis, Thickened skin, Weight loss ORPHA:79430
Xeroderma Pigmentosum
Failure to thrive, Thickened skin, Erythema, Hyperkeratosis, Dry skin ORPHA:910
Follicular Lymphoma
Lymphedema, Pleural effusion, Weight loss ORPHA:545
Incontinentia Pigmenti
Skin rash, Eosinophilia, Erythema, Skin ulcer, Hyperkeratosis ORPHA:464
Cardiofaciocutaneous Syndrome 1
Polyhydramnios, Atopic dermatitis, Hyperkeratosis, Ichthyosis, Failure to thrive OMIM:115150
Non-Functioning Paraganglioma
Hypercalcemia, Pallor, Weight loss ORPHA:94080
Isaacs Syndrome
Weight loss ORPHA:84142
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hyperkeratosis OMIM:615510
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia, Edema, Weight loss, Muscular edema ORPHA:3165
Chondrodysplasia Punctata, Autosomal Dominant
Hyperkeratosis with erythema OMIM:118650
Ramon Syndrome
Hyperkeratosis, Decreased body weight OMIM:266270
Chime Syndrome
Hyperkeratosis, Erythema, Skin ulcer, Ichthyosis ORPHA:3474
Late-Onset Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Eosinophilia, Hypercalcemia, Hyperkalemia, Dr... ORPHA:199299
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Skin rash, Edema, Elevated circulating C-reactive protein concentr... ORPHA:324964
Congenital Muscular Dystrophy Due To Lmna Mutation
Death in infancy, Cachexia ORPHA:157973
Fabry Disease
Hyperkeratosis, Hyperlipidemia, Abnormal circulating lipid concentration, Lymphedema ORPHA:324
Mucoepithelial Dysplasia, Hereditary
Chronic mucocutaneous candidiasis, Eosinophilia, Follicular hyperkeratosis OMIM:158310
Lymphatic Filariasis
Hyperkeratosis, Predominantly lower limb lymphedema, Hypereosinophilia, Lymphedema ORPHA:2035
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Redundant neck skin, Weight loss ORPHA:1842
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Deafness-Lymphedema-Leukemia Syndrome
Lymphedema, Pallor, Weight loss ORPHA:3226
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Pleural ... ORPHA:90362
Huntington Disease-Like 2
Weight loss OMIM:606438
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Pleural Mesothelioma
Pleural effusion, Weight loss ORPHA:50251
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Kindler Epidermolysis Bullosa
Hyperkeratosis, Erythema, Palmoplantar keratoderma, Recurrent skin infections ORPHA:2908
Refractory Celiac Disease
Inflammatory abnormality of the skin, Hypophosphatemia, Weight loss, Hypoalbuminemia, Hypocalcemi... ORPHA:398063
Mulibrey Nanism
Cachexia ORPHA:2576
Takayasu Arteritis
Skin ulcer, Weight loss ORPHA:3287
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Polyhydramnios, Follicular hyperkeratosis, Cutis laxa OMIM:614557
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Juvenile Huntington Disease
Weight loss ORPHA:248111
Eec Syndrome
Hyperkeratosis, Dry skin, Xerostomia ORPHA:1896
Wolman Disease
Ascites, Cachexia, Steatorrhea ORPHA:75233
Juvenile Dermatomyositis
Calcinosis, Skin rash, Elevated circulating creatine kinase concentration, Elevated circulating C... ORPHA:93672
Huntington Disease
Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss ORPHA:399
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Atopic dermatitis, Weig... ORPHA:2902
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Pustule, Angioedema, Erythema, Weight loss, Erythroderma ORPHA:139402
Classic Hodgkin Lymphoma
Pruritus, Skin rash, Weight loss ORPHA:391
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Aicardi-Goutieres Syndrome 9
Chilblains, Edema, Pericardial effusion, Dry skin, Weight loss, Ascites, Hypoalbuminemia, Failure... OMIM:619487
Christianson Syndrome
Death in early adulthood, Cachexia ORPHA:85278
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss ORPHA:1164
Rhabdoid Tumor
Hypercalcemia, Weight loss ORPHA:69077
Holocarboxylase Synthetase Deficiency
Perioral eczema, Eczema, Hyperammonemia, Weight loss ORPHA:79242
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Dry skin, Weight... ORPHA:95409
Pseudomyxoma Peritonei
Ascites, Weight loss ORPHA:26790
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Majeed Syndrome
Inflammatory abnormality of the skin, Acne, Edema, Cachexia, Pustule, Weight loss, Failure to thrive ORPHA:77297
Beta-Ketothiolase Deficiency
Edema, Hyperammonemia, Weight loss, Dehydration, Hyperuricemia, Pallor ORPHA:134
Flynn-Aird Syndrome
Cachexia, Skin ulcer ORPHA:2047
Congenital Tufting Enteropathy
Dehydration, Failure to thrive, Steatorrhea, Weight loss ORPHA:92050
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hyperalaninemia, Cachexia, Weight loss ORPHA:298
Acrodermatitis Enteropathica
Pustule, Erythema, Dry skin, Skin ulcer, Weight loss, Failure to thrive ORPHA:37
Focal Myositis
Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
Hyperkeratosis, Penetrating foot ulcers, Acral ulceration ORPHA:548
6Q Terminal Deletion Syndrome
Hyperkeratosis, Failure to thrive, Obesity ORPHA:75857
Kaposi Sarcoma
Lymphedema, Skin rash, Weight loss ORPHA:33276
Thymic Carcinoma
Palpebral edema, Edema, Weight loss ORPHA:99868
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Polyhydramnios, Cachexia OMIM:618186
Glucose-Galactose Malabsorption
Hypercalcemia, Dehydration, Weight loss, Hypernatremia, Failure to thrive ORPHA:35710
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Hypercalcemia, Weight loss ORPHA:97289
Celiac Disease, Susceptibility To, 1
Eczema, Weight loss, Hypocalcemia, Steatorrhea, Failure to thrive OMIM:212750
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Cachexia, Pruritus, Hyperkalemia, Dehydration, Weight loss, X... ORPHA:275761
Immunodeficiency 27A
Hypoalbuminemia, Weight loss OMIM:209950
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Atypical Werner Syndrome
Hypertriglyceridemia, Lack of skin elasticity, Skin ulcer, Hyperkeratosis, Decreased body weight,... ORPHA:79474
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Skin rash, Acantholysis, Xerostomia, Skin ulcer ORPHA:95455
Mcdonough Syndrome
Cachexia ORPHA:2471
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Dry skin, Hyperkeratosis, Stillbirth, Hyperbilirubinemia, Death in childhood, F... OMIM:210710
Wilson Disease
Pruritus, Increased body weight, Weight loss, Joint swelling, Failure to thrive ORPHA:905
Xfe Progeroid Syndrome
Cachexia, Dry skin, Death in adolescence, Ascites, Hypoalbuminemia, Failure to thrive OMIM:610965
Benign Recurrent Intrahepatic Cholestasis
Pruritus, Weight loss ORPHA:65682
Primary Myelofibrosis
Cachexia, Pallor, Ecchymosis, Petechiae, Purpura ORPHA:824
De Sanctis-Cacchione Syndrome
Parakeratosis OMIM:278800
Malignant Peritoneal Mesothelioma
Ascites, Pedal edema, Weight loss ORPHA:168811
Yao Syndrome
Xerostomia, Inflammatory abnormality of the skin, Skin rash, Weight loss OMIM:617321
Nodular Non-Suppurative Panniculitis
Erythema, Edema, Weight loss ORPHA:33577
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Palmoplantar cutis laxa, Excessive wrinkled skin, Follicular hyperkeratosis OMIM:225400
Warburg-Cinotti Syndrome
Joint swelling, Erythema, Follicular hyperkeratosis OMIM:618175
Huntington Disease-Like 1
Weight loss ORPHA:157941
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hyperparakeratosis, Seborrheic dermatitis ORPHA:276280
Restrictive Dermopathy 1
Polyhydramnios, Epidermal hyperkeratosis, Stillbirth, Scaling skin, Neonatal death, Oligohydramnios OMIM:275210
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Ménétrier Disease
Hypoproteinemia, Peripheral edema, Hypoalbuminemia, Weight loss ORPHA:2494
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Weight loss, Failure to thrive ORPHA:361
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hyperammonemia, Decreased plasma total carnitine, Elevated circulating creatine kinase concentrat... ORPHA:42
Poems Syndrome
Edema, Pericardial effusion, Thickened skin, Abnormality of skin physiology, Weight loss, Pleural... ORPHA:2905
Pfapa Syndrome
Weight loss ORPHA:42642
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion, Weight loss ORPHA:411703
Joint swelling, Weight loss ORPHA:668
Mast Cell Sarcoma
Weight loss ORPHA:66661
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
X-Linked Creatine Transporter Deficiency
Abnormal circulating creatine concentration, Redundant skin, Cachexia ORPHA:52503
Aggressive Systemic Mastocytosis
Pruritus, Ascites, Maculopapular exanthema, Weight loss ORPHA:98850
3-Hydroxy-3-Methylglutaric Aciduria
Edema, Hyperammonemia, Weight loss, Dehydration, Hyperuricemia, Pallor ORPHA:20
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Weight loss, Joint... ORPHA:465508
Gm1 Gangliosidosis
Thickened skin, Failure to thrive, Hydrops fetalis, Weight loss ORPHA:354
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Xerostomia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Renpenning Syndrome
Cachexia ORPHA:3242
Wild Type Attr Amyloidosis
Pleural effusion, Pulmonary edema, Pedal edema, Weight loss ORPHA:330001
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Addison Disease
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Dry skin, Weight... ORPHA:85138
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Pallor, Weight loss ORPHA:276621
Desmoplastic Small Round Cell Tumor
Ascites, Cachexia, Weight loss ORPHA:83469
Rheumatoid Arthritis
Joint swelling, Elevated circulating C-reactive protein concentration, Weight loss OMIM:180300
Osteootohepatoenteric Syndrome
Pruritus, Dehydration, Weight loss, Hypokalemia, Increased serum bile acid concentration, Failure... OMIM:619377
Skin rash, Hypercalcemia, Necrolytic migratory erythema, Pruritus, Weight loss, Increased circula... ORPHA:97280
Koolen-De Vries Syndrome Due To A Point Mutation
Small for gestational age, Eczema, Hyperkeratosis, Ichthyosis, Slender build ORPHA:363965
17Q21.31 Microdeletion Syndrome
Small for gestational age, Eczema, Hyperkeratosis, Ichthyosis, Slender build ORPHA:363958
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat... ORPHA:83617
Hypercalcemia, Erythema, Dehydration, Weight loss, Increased circulating cortisol level, Hypokale... ORPHA:97282
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Eczema, Erythema, Hyperkeratosis, Ichthyosis, Failure to thrive ORPHA:2273
Perry Syndrome
Weight loss ORPHA:178509
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Peripheral Primitive Neuroectodermal Tumor
Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concentration, Pruri... ORPHA:370348
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Weight loss ORPHA:86884
Igg4-Related Aortitis
Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:449400
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Failure to thrive in infancy, Ecze... ORPHA:37042
Eosinophilic Granulomatosis With Polyangiitis
Weight loss, Skin rash, Eosinophilia, Purpura ORPHA:183
Acute Promyelocytic Leukemia
Ecchymosis, Weight loss, Petechiae, Purpura ORPHA:520
Cronkhite-Canada Syndrome
Cachexia, Lymphedema ORPHA:2930
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Weight loss OMIM:613239
19Q13.11 Microdeletion Syndrome
Failure to thrive, Dry skin, Cachexia ORPHA:217346
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Skin rash, Abnormality of body weight, Abnormal circula... ORPHA:2298
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Elevated circulating creatine kinase concentration, Cachexia ORPHA:1933
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Polyhydramnios, Cachexia ORPHA:2774
Systemic Capillary Leak Syndrome
Pleural effusion, Pulmonary edema, Pedal edema, Weight loss ORPHA:188
Short Syndrome
Excessive wrinkled skin, Weight loss ORPHA:3163
Restrictive Dermopathy
Polyhydramnios, Epidermal hyperkeratosis, Scaling skin, Generalized hyperkeratosis, Dermal transl... ORPHA:1662
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pruritus, Eosinophilia, Pallor, Weight loss ORPHA:98849
Cryptogenic Organizing Pneumonia
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:1302
Cowden Syndrome
Failure to thrive, Palmoplantar keratoderma, Generalized hyperkeratosis ORPHA:201
Rat-Bite Fever
Maculopapular exanthema, Skin rash, Erythema nodosum, Pustule, Weight loss, Scaling skin, Morbill... ORPHA:31205
Imerslund-Gräsbeck Syndrome
Failure to thrive, Pallor, Weight loss ORPHA:35858
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Bronchial Neuroendocrine Tumor
Increased circulating cortisol level, Weight loss ORPHA:97287
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Weight loss ORPHA:90060
Chronic Beryllium Disease
Weight loss ORPHA:133
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Pallor, Weight loss ORPHA:29072
Loeffler Endocarditis
Eosinophilia, Weight loss ORPHA:75566
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Orthokeratotic hyperkeratosis, Epidermal thickening, Thickened skin ORPHA:73223
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hyperkeratosis, Xerostomia OMIM:604292
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Tetrasomy 12P
Cachexia ORPHA:884
Chronic oral candidiasis, Pleural effusion, Weight loss ORPHA:723
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Death in early adulthood, Elevated circulating deoxyuridine concentration, Cachexia, Weight loss,... OMIM:603041
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Abnormal eosinophil morphology, Edema, Periorbital edema, Pruritus, Erythema, Skin ulcer, Weight ... ORPHA:221
Primary Hepatic Neuroendocrine Carcinoma
Elevated carcinoembryonic antigen level, Ascites, Elevated circulating alpha-fetoprotein concentr... ORPHA:100085
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hyperkeratosis, Xerostomia OMIM:129900
Inflammatory Pseudotumor Of The Liver
Elevated circulating alpha-fetoprotein concentration, Weight loss ORPHA:90003
Giant Cell Arteritis
Skin ulcer, Weight loss ORPHA:397
Elevated circulating creatine kinase concentration, Weight loss ORPHA:732
Al Amyloidosis
Increased circulating NT-proBNP concentration, Xerostomia, Weight loss, Peripheral edema, Hypoalb... ORPHA:85443
Lymphoid Interstitial Pneumonia
Failure to thrive, Skin rash, Eczema, Weight loss ORPHA:79128
Cap Polyposis
Weight loss ORPHA:160148
Solitary Fibrous Tumor
Hypophosphatemic rickets, Reduced C-peptide level, Weight loss ORPHA:2126
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Acute Monoblastic/Monocytic Leukemia
Periorbital edema, Weight loss ORPHA:514
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Igg4-Related Retroperitoneal Fibrosis
Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, Elevated circulating C... ORPHA:49041
Amoebiasis Due To Entamoeba Histolytica
Pleural empyema, Pleural effusion, Hypoalbuminemia, Weight loss ORPHA:67
Weight loss ORPHA:69078
Hypercalcemia, Weight loss, Increased circulating cortisol level, Steatorrhea, Ascites ORPHA:97283
Kyphoscoliotic Ehlers-Danlos Syndrome
Follicular hyperkeratosis ORPHA:536545
Q Fever
Maculopapular exanthema, Pericardial effusion, Weight loss, Pleural effusion, Purpura ORPHA:781
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Erythema, Hypercalcemia, Weight loss ORPHA:913
Erdheim-Chester Disease
Skin rash, Weight loss, Xanthelasma, Joint swelling, Pleural effusion ORPHA:35687
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis, Weight loss, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptog... OMIM:613673
Increased circulating cortisol level, Ascites, Hypercalcemia, Weight loss ORPHA:97278
Cystic Echinococcosis
Eosinophilia, Hyperbilirubinemia, Weight loss ORPHA:400
Riddle Syndrome
Erythema, Scaling skin, Elevated circulating alpha-fetoprotein concentration, Weight loss ORPHA:420741
Cushing Syndrome Due To Ectopic Acth Secretion
Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased body ... ORPHA:99889
Simple Cryoglobulinemia
Weight loss, Acral ulceration, Purpura ORPHA:91139
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Decreased circulating cortisol level, Miscarriage, Acne, Hyperkalemia, Dehydration,... ORPHA:90794
Caroli Disease
Conjugated hyperbilirubinemia, Pruritus, Abnormal circulating alpha-fetoprotein concentration, We... ORPHA:53035
Pancreatic Triacylglycerol Lipase Deficiency
Edema, Steatorrhea, Weight loss ORPHA:309031
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Dry skin, Skin rash, Cachexia ORPHA:220295
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia, Steatorrhea ORPHA:3217
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... ORPHA:79102
Familial Thrombocytosis
Pruritus, Miscarriage, Weight loss ORPHA:71493
Whipple Disease
Hyponatremia, Cachexia, Pedal edema ORPHA:3452
Perry Syndrome
Weight loss OMIM:168605
Scleroderma, Weight loss ORPHA:99867
X-Linked Intellectual Disability, Cabezas Type
Acanthosis nigricans, Obesity, Cachexia ORPHA:85293
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:54251
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Felty Syndrome
Weight loss ORPHA:47612
Kikuchi-Fujimoto Disease
Skin rash, Palpebral edema, Elevated circulating C-reactive protein concentration, Pruritus, Pust... ORPHA:50918
Aredyld Syndrome
Cachexia ORPHA:1133
8P23.1 Microdeletion Syndrome
Obesity, Weight loss ORPHA:251071
Aicardi-Goutieres Syndrome 7
Skin rash, Chilblains, Edema, Pericardial effusion, Increased circulating ferritin concentration,... OMIM:615846
Oromandibular Dystonia
Weight loss ORPHA:93958
Budd-Chiari Syndrome
Ascites, Weight loss ORPHA:131
Increased circulating cortisol level, Ascites, Hypercalcemia, Weight loss ORPHA:97261
Lynch Syndrome
Death in infancy, Death in early adulthood, Weight loss ORPHA:144
Granulomatosis With Polyangiitis
Skin rash, Elevated circulating C-reactive protein concentration, Periorbital edema, Skin ulcer, ... ORPHA:900
Weight loss ORPHA:654
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Cystinosis, Nephropathic
Hyponatremia, Failure to thrive in infancy, Reduced blood urea nitrogen, Weight loss, Hypophospha... OMIM:219800
Fatal Familial Insomnia
Weight loss OMIM:600072
Silver-Russell Syndrome
Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Multiple Myeloma
Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Hyperproteinemia, Pleu... ORPHA:29073
Granulomatosis With Polyangiitis
Skin ulcer, Weight loss OMIM:608710
Chronic Graft Versus Host Disease
Thickened skin, Erythema, Xerostomia, Skin ulcer, Weight loss, Skin vesicle, Pleural effusion, As... ORPHA:99921
Postinfectious Vasculitis
Abnormal circulating protein concentration, Inflammatory abnormality of the skin, Palpable purpur... ORPHA:48435
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Dehydration, Weight loss, Hypophosphatemia, Hypokalemia, Decreased ... ORPHA:3337
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Miscarriage, Small for gestational age, Elevated circulating C-reactive protein concentration, We... ORPHA:1304
Polycythemia Vera
Pruritus, Weight loss ORPHA:729
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Alveolar Echinococcosis
Cutaneous abscess, Eosinophilia, Pedal edema, Weight loss ORPHA:284
Familial Colorectal Cancer Type X
Abnormal circulating creatine concentration, Weight loss ORPHA:440437
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Pruritus, Weight loss, Hypoalbuminemia, Pleural effusion, Ascites ORPHA:171
Proteus Syndrome
Thickened skin, Generalized hyperkeratosis, Cachexia, Lymphedema ORPHA:744
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Castleman Disease
Anasarca, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:160
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Hypokalemia, Pallor, Weight loss ORPHA:91347
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Weight loss ORPHA:747
Pulmonary Alveolar Microlithiasis
Abnormal circulating calcium concentration, Weight loss, Peripheral edema, Increased circulating ... ORPHA:60025
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mildly elevated creatine kinase, Weight loss OMIM:607459
Malignant Atrophic Papulosis
Pleural effusion, Weight loss ORPHA:679
Mucolipidosis Type Ii
Thickened skin, Oligohydramnios, Weight loss ORPHA:576
Immunodeficiency 31C
Eczema, Chronic mucocutaneous candidiasis, Weight loss, Chronic oral candidiasis, Recurrent vulvo... OMIM:614162
Acquired Central Diabetes Insipidus
Weight loss