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Gene: Nipal4 MGI:2444671

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

NIPA-like domain containing 4

Synonyms:

9530066K23Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

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.

Human diseases associated with Nipal4 (3 diseases)
Human diseases predicted to be associated with Nipal4 (574 diseases)

The table below shows human diseases associated to Nipal4 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ichthyosis, Er...	OMIM:612281
Lamellar Ichthyosis	Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Ichthyosis, Erythroderma, Dry skin	ORPHA:313
Congenital Ichthyosiform Erythroderma	Pruritus, Erythroderma, Palmoplantar keratoderma, Ichthyosis, Failure to thrive	ORPHA:79394

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

Disease	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
Dermatoleukodystrophy	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
Chromomycosis	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
Monilethrix	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
Monilethrix	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
Tuberculosis	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
Mycetoma	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
Fucosidosis	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
Leprechaunism	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
Leishmaniasis	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
Leprosy	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
Osteosarcoma	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
Glucagonoma	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
Vipoma	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
Pneumocystosis	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
Dermatomyositis	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
Polymyositis	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
Liposarcoma	Weight loss	ORPHA:69078
Somatostatinoma	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
Ppoma	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
Thymoma	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
Grfoma	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
Nephroblastoma	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
Brucellosis	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	ORPHA:95626
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Rett Syndrome	Cachexia	OMIM:312750
Schwartz-Jampel Syndrome	Death in infancy, Elevated circulating creatine kinase concentration, Polyhydramnios, Cachexia, D...	ORPHA:800
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Dehydration, Weight loss, Increased circulating cortisol level, Primary hypercorti...	ORPHA:652
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Skin rash, Elevated circulating C-reactive protein concentration, Weight loss	OMIM:301074
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia, Lymphedema	ORPHA:109
Gallbladder Neuroendocrine Tumor	Ascites, Weight loss	ORPHA:100086
Immunodeficiency 82 With Systemic Inflammation	Skin rash, Recurrent skin infections, Elevated circulating C-reactive protein concentration, Weig...	OMIM:619381
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Dehydration, Weight loss	ORPHA:99885
Trisomy 18	Cachexia, Oligohydramnios	ORPHA:3380
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Eosinophilia, Elevated circulating C-reactive protein conce...	ORPHA:449395
Microsporidiosis	Dehydration, Cachexia, Weight loss	ORPHA:2552
Hereditary Late-Onset Parkinson Disease	Weight loss	ORPHA:411602
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Polyhydramnios, Weight loss	ORPHA:2020
Parathyroid Carcinoma	Hypophosphatemia, Hypercalcemia, Weight loss	ORPHA:143
Klatskin Tumor	Weight loss	ORPHA:99978
Ileal Neuroendocrine Tumor	Edema, Weight loss	ORPHA:100078
Neuroendocrine Tumor Of Stomach	Weight loss	ORPHA:100075
African Trypanosomiasis	Pruritus, Miscarriage, Abnormality of circulating cortisol level, Weight loss	ORPHA:3385
Oculopharyngodistal Myopathy 1	Elevated circulating creatine kinase concentration, Weight loss	OMIM:164310
Cockayne Syndrome	Premature skin wrinkling, Malar rash, Hyperuricemia, Cachexia	ORPHA:191
Fanconi Anemia	Oligohydramnios, Weight loss	ORPHA:84
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Weight loss	ORPHA:677
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Joint swelling, Weight loss	ORPHA:85408
Pyomyositis	Recurrent cutaneous abscess formation, Weight loss	ORPHA:764
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Sarcoidosis	Maculopapular exanthema, Hypercalcemia, Eosinophilia, Erythema nodosum, Weight loss, Joint swelli...	ORPHA:797
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Behçet Disease	Pleural effusion, Acne, Weight loss	ORPHA:117
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Premature skin wrinkling, Lack of skin elasticity, Weight loss	ORPHA:740
Familial Pancreatic Carcinoma	Weight loss	ORPHA:1333
Nocardiosis	Pleural effusion, Cutaneous abscess, Weight loss	ORPHA:31204
Tubulointerstitial Nephritis And Uveitis Syndrome	Skin rash, Elevated circulating C-reactive protein concentration, Elevated circulating creatinine...	ORPHA:91500
Igg4-Related Dacryoadenitis And Sialadenitis	Facial edema, Xerostomia, Palpebral edema, Weight loss	ORPHA:79078
Marfan Syndrome	Cachexia, Slender build, Striae distensae	ORPHA:558
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Ecchymosis, Cachexia, Skin ulcer	ORPHA:2072
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Cachexia	ORPHA:79076
Seckel Syndrome	Cachexia	ORPHA:808
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Pleural effusion, Weight loss	OMIM:181000
Goodpasture Syndrome	Increased blood urea nitrogen, Pallor, Weight loss	OMIM:233450
Tropical Pancreatitis	Weight loss	ORPHA:103918
Malt Lymphoma	Weight loss	ORPHA:52417
Tropical Endomyocardial Fibrosis	Eosinophilia, Cachexia, Pedal edema, Peripheral edema, Hypoalbuminemia, Ascites	ORPHA:75565
Nijmegen Breakage Syndrome	Cachexia	ORPHA:647
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Weight loss	ORPHA:2388
Camurati-Engelmann Disease	Slender build, Cachexia	ORPHA:1328
Stickler Syndrome	Slender build, Cachexia	ORPHA:828
Norrie Disease	Failure to thrive, Cachexia	ORPHA:649

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nipal4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nipal4.

No publications found that use IMPC mice or data for Nipal4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Nipal4^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Nipal4^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Nipal4^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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