Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
plakophilin 1
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Pkp1 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 Pkp1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Scarring, Pruritus, Palmoplantar keratoderma, Nail dystro... ORPHA:158668
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Scaling skin, Spar... OMIM:604536

The table below shows human diseases predicted to be associated to Pkp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Aplasia/Hypoplasia of the skin ORPHA:735
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis, Skin nodule, Verrucous papule ORPHA:139414
Ulerythema Ophryogenesis
Acne, Miscarriage, Dry skin, Erythematous papule, Facial erythema, Dermal atrophy, Follicular hyp... ORPHA:3406
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Aplasia cutis congenita on trunk or limbs, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis,... ORPHA:89838
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer, Papule ORPHA:2337
Palmoplantar Keratoderma, Norrbotten Recessive Type
Papule, Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Hyperkeratosis Lenticularis Perstans
Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer, Papule ORPHA:409
Classic Mycosis Fungoides
Alopecia, Skin rash, Eczema, Edema, Pruritus, Erythema, Hypopigmented skin patches, Skin ulcer, D... ORPHA:2584
Aquagenic Palmoplantar Keratoderma
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... ORPHA:498359
Atrophoderma Vermiculata
Hypoplastic pilosebaceous units, Pruritus, Periauricular skin pits, Erythema, Atrophic scars, Ski... ORPHA:79100
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Crusting erythematous dermatitis, Erythema, Palmoplantar hyperkeratosis, Erythematous plaque, Thi... ORPHA:158673
Dystrophic Epidermolysis Bullosa Pruriginosa
Scarring, Pruritus, Subcutaneous nodule, Hyperkeratosis, Atrophic scars, Nail dystrophy, Dermal a... ORPHA:89843
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Atrophic scars, Nail dystrophy OMIM:131850
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Hypermelanotic macule, Pruritus, Spotty hypopigmentation, Hyperkeratosis,... ORPHA:79399
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis OMIM:146750
Lamellar Ichthyosis
Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Erythroderma, Sparse hair, Dry sk... ORPHA:313
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Erythematous pap... ORPHA:90280
Prolidase Deficiency
Aplasia/Hypoplasia of the skin, Pruritus, Crusting erythematous dermatitis, Low anterior hairline... ORPHA:742
Superficial Epidermolytic Ichthyosis
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin ORPHA:455
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Weight loss, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma ORPHA:312
Erythrokeratodermia Variabilis
Macule, Alopecia, Skin rash, Hypermelanotic macule, Abnormal hair morphology, Erythema, Patchy pa... ORPHA:317
Lichen Planopilaris
Alopecia, Pruritus, Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Dermal atrophy, Papule ORPHA:525
Pruritic Urticarial Papules And Plaques Of Pregnancy
Urticarial plaque, Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body... ORPHA:64745
Meige Disease
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... ORPHA:90186
Reticular Dysgenesis
Skin rash, Skin ulcer, Dehydration, Weight loss, Failure to thrive ORPHA:33355
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Verrucous papule, Acrokeratosis OMIM:101900
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Pustule, Dehydration, Long eyelashes, Failure to thrive, Papule OMIM:616069
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratos... ORPHA:79503
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Eczema, Xerostomia, Dry skin, Hyperkeratosis, Aplasia/... ORPHA:238468
Absence Of Fingerprints-Congenital Milia Syndrome
Milia, Skin rash, Camptodactyly of finger, Thin skin ORPHA:1658
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dry skin... ORPHA:454
Reticulate Acropigmentation Of Kitamura
Macule, Hyperkeratosis OMIM:615537
Acrogeria
Aplasia/Hypoplasia of the skin, Lipoatrophy, Skin ulcer, Fine hair, Excessive wrinkled skin, Thin... ORPHA:2500
Dermoodontodysplasia
Dry skin, Thin skin, Trichodysplasia OMIM:125640
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Flexion contracture, Subcutaneous nod... ORPHA:231
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin OMIM:617571
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Lipoatrophy, Skin dimple, Thin skin, Sparse hair, Failure to thrive, Aplasia/Hypoplasia of the ey... ORPHA:261304
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Chronic Hiccup
Dehydration, Weight loss ORPHA:396
Harlequin Ichthyosis
Hyperkeratosis, Dehydration, Erythroderma ORPHA:457
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Decreased body weight, Spa... ORPHA:2985
Pemphigus Vulgaris
Atypical scarring of skin, Recurrent cutaneous abscess formation, Weight loss, Acantholysis ORPHA:704
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Eczema, Thin skin, Sparse body hair ORPHA:1810
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Diffuse palmoplantar hyperkeratosis, Dermal atrophy, Alopecia of scalp, Sparse body hai... OMIM:617294
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atroph... ORPHA:542592
Darier Disease
Macule, Hypermelanotic macule, Acrokeratosis, Pruritus, Abnormal hair morphology, Plantar pits, P... ORPHA:218
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Erythematous pl... OMIM:618531
Dermoodontodysplasia
Sparse scalp hair, Melanocytic nevus, Thin skin, Trichodysplasia, Dry skin, Sparse body hair ORPHA:1660
Moynahan Syndrome
Sparse hair, Hyperkeratosis, Alopecia, Cachexia ORPHA:2574
Bazex Syndrome
Parakeratosis, Edema, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dyst... ORPHA:166113
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sp... OMIM:607903
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Lack of skin elasticity, A... ORPHA:1366
Netherton Syndrome
Hypernatremic dehydration, Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infecti... OMIM:256500
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Dehydration OMIM:601410
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration OMIM:614265
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess OMIM:619986
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1962
Familial Cold Urticaria
Pruritus, Erythema, Dehydration ORPHA:47045
Dowling-Degos Disease
Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Pruritus, Palmar pits, Digital pitt... ORPHA:79145
Juvenile Hyaline Fibromatosis
Death in infancy, Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Abnormal hair... ORPHA:2028
Congenital Heart Defects And Ectodermal Dysplasia
Medial flaring of the eyebrow, Sparse scalp hair, Thin skin, High anterior hairline, Dry skin OMIM:617364
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Atrophic scars, Palmoplantar keratoderma, Nail dystrophy, Milia, Apla... ORPHA:79402
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Abnormality of... ORPHA:90368
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura ORPHA:743
Palmoplantar Keratoderma And Congenital Alopecia 2
Camptodactyly of finger, Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperker... OMIM:212360
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Lipodystrophy, Sparse eyelashes, Sparse eyebrow, Flexion contracture, Cutis la... ORPHA:75496
Transient Neonatal Diabetes Mellitus
Umbilical hernia, Failure to thrive, Small for gestational age, Dehydration ORPHA:99886
Hereditary Acrokeratotic Poikiloderma
Eczema, Camptodactyly of finger, Pustule, Erythema, Xerostomia, Hypopigmented skin patches, Palmo... ORPHA:2907
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, ... ORPHA:1979
Chilblain Lupus 1
Chilblains, Skin ulcer OMIM:610448
Netherton Syndrome
Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology,... ORPHA:634
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Death in infancy, Dehydration OMIM:251850
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Flexion contracture, Elbow flexion contracture, Deh... OMIM:214150
X-Linked Ehlers-Danlos Syndrome
Umbilical hernia, Inguinal hernia, Thin skin, Hernia ORPHA:75497
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Ascites, Palmoplantar keratoderma ORPHA:2198
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Aplasia cutis congenita, Congenital absence of skin of limbs OMIM:600360
Pemphigus Erythematosus
Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,... ORPHA:79480
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Chromomycosis
Erythematous macule, Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparak... ORPHA:182
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Cachexia, Dry skin, Fine hair, Sparse or absent eyelashes, Thin skin, Spars... ORPHA:217346
Premature Aging Syndrome, Penttinen Type
Failure to thrive, Lipoatrophy, Skin nodule, Palmoplantar hyperkeratosis, Corneal stromal edema, ... OMIM:601812
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Atypical scarring of skin, Petechiae, Thin skin, Striae distensae OMIM:225310
Familial Cervical Artery Dissection
Abnormality of connective tissue, Thin skin, Striae distensae ORPHA:36382
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Huriez Syndrome
Aplasia/Hypoplasia of the skin, Palmoplantar keratoderma, Lack of skin elasticity, Dry skin ORPHA:384
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Stillbirth, Thin skin OMIM:259410
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Failure to thrive, Flexion contracture, Thin skin ORPHA:157965
Arthrochalasia Ehlers-Danlos Syndrome
Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Thin skin ORPHA:1899
Chronic Mucocutaneous Candidiasis
Skin rash, Abnormal dental enamel morphology, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Papule ORPHA:1334
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... OMIM:619208
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia, Alopecia of scalp, Dermal atrophy OMIM:136300
Pituitary Adenoma 4, Acth-Secreting
Striae distensae, Edema, Obesity, Facial erythema, Abdominal obesity, Thin skin, Ecchymosis, Hirs... OMIM:219090
Central Diabetes Insipidus
Failure to thrive, Dehydration, Weight loss ORPHA:178029
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Purpura ORPHA:745
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Dry skin, Fine hair, P... OMIM:129400
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle ORPHA:158681
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Dehydration ORPHA:289504
Autosomal Agammaglobulinemia
Recurrent skin infections, Skin rash, Dehydration, Cellulitis, Failure to thrive ORPHA:33110
Familial Keratoacanthoma
Papule, Hyperkeratosis, Subcutaneous nodule, Skin ulcer ORPHA:493
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Palmar hyperkeratosis, Dry skin, D... OMIM:150400
Fetal Encasement Syndrome
Omphalocele, Thin skin, Congenital diaphragmatic hernia OMIM:613630
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Nonimmune hydro... OMIM:607823
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy... OMIM:615821
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Dermal atrophy, Scaling skin ORPHA:454831
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Dehydration ORPHA:28
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Cutis laxa, Thin skin, Sparse hair, Umbilical hernia, Failure to thrive OMIM:219150
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Dehydration OMIM:618958
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Aplasia/Hypoplasia of the skin, Lipoatrophy, Lipody... ORPHA:2348
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Skin vesicle ORPHA:254478
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion, Discoid lupus rash, Hyperkeratosis, Annular cutaneous lesion, Dermal atrophy... ORPHA:163525
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Adult Syndrome
Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Dry skin, Hypoplastic ... OMIM:103285
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin OMIM:602723
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Pustule, Atopic dermatitis, Dehydration, Weight loss ORPHA:171876
Ichthyosis, Congenital, Autosomal Recessive 10
Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma OMIM:615024
Xeroderma Pigmentosum
Macule, Alopecia, Hypermelanotic macule, Erythema, Hypopigmented skin patches, Dry skin, Melanocy... ORPHA:910
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... ORPHA:79481
Lymphatic Malformation 12
Inguinal hernia, Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in a... OMIM:620014
Proliferating Trichilemmal Cyst
Sparse scalp hair, Epidermoid cyst, Skin ulcer ORPHA:492
Hypercalcemia, Infantile, 1
Failure to thrive, Dehydration, Weight loss OMIM:143880
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, Cigarette-paper scars, Thin skin, Webbed neck, Joint contracture of the ... OMIM:612350
Pulmonary Blastoma
Weight loss ORPHA:64741
Kaposi Sarcoma
Macule, Skin rash, Hypermelanotic macule, Lymphedema, Skin nodule, Weight loss, Skin plaque, Papule ORPHA:33276
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Atrophic scars, Inguinal hernia, Thin skin OMIM:225320
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Aplasia/Hypoplasia of the skin, Lipoatrophy, Xantho... ORPHA:79083
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... OMIM:614594
Lymphatic Malformation 4
Hyperkeratosis, Cellulitis, Pedal edema, Lymphedema OMIM:615907
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Erythematous... OMIM:607602
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Edema, Dehydration ORPHA:103910
Short Syndrome
Inguinal hernia, Small for gestational age, Lipoatrophy, Lipodystrophy, Absence of subcutaneous f... OMIM:269880
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer ORPHA:36386
Noonan Syndrome 8
Curly hair, Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Webbed neck, Palmo... OMIM:615355
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... ORPHA:2457
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Folliculitis, Palm... OMIM:308800
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Polyhydramnios, Fine ha... ORPHA:1812
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis, Skin nodule ORPHA:199267
Silver-Russell Syndrome 2
Thin skin OMIM:618905
Bullous Pemphigoid
Macule, Psoriasiform dermatitis, Eczema, Erythema, Weight loss ORPHA:703
Propionic Acidemia
Failure to thrive, Eczema, Dehydration OMIM:606054
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Aplasia cutis congenita, Flexion contracture, Polyhydramnios OMIM:612138
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Pruritus, Weight loss ORPHA:86893
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Skin rash, Skin ulcer, Cellulitis, Failure to thrive ORPHA:229717
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Scalin... OMIM:616295
Osteogenesis Imperfecta, Type Ii
Small for gestational age, Nonimmune hydrops fetalis, Thin skin OMIM:166210
Restrictive Dermopathy 1
Sparse eyelashes, Short nail, Polyhydramnios, Epidermal hyperkeratosis, Absent eyelashes, Sparse ... OMIM:275210
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Death in adolescence, Dehydration, Death in childhood OMIM:560000
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Eczema, Sparse eyelashes, Absent eyelashes, Sparse e... OMIM:305100
Cutis Laxa, Autosomal Recessive, Type Iiib
Inguinal hernia, Flexion contracture, Elbow flexion contracture, Fine hair, Cutis laxa, Excessive... OMIM:614438
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Dehydration ORPHA:79312
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Aplasia/Hypopl... ORPHA:280365
Werner Syndrome
Sparse scalp hair, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, Miscarriage, Abnor... ORPHA:902
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Fine hair, Melanocytic nevus, Hypoplastic... ORPHA:978
Periventricular Nodular Heterotopia
Thin skin, Hernia ORPHA:98892
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Acantholysis, Aplasia cutis congenita, Neonatal death, Skin erosion, Alopecia u... OMIM:609638
Intestinal Dysmotility Syndrome
Failure to thrive, Polyhydramnios, Weight loss OMIM:620045
Focal Dermal Hypoplasia
Omphalocele, Macule, Alopecia, Inguinal hernia, Aplasia/Hypoplasia of the skin, Abnormal dental e... ORPHA:2092
Self-Improving Dystrophic Epidermolysis Bullosa
Skin erosion, Atrophic scars, Palmoplantar keratoderma, Nail dystrophy, Aplasia cutis congenita, ... ORPHA:79411
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Erythroderma, Orthokeratos... OMIM:612281
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Preauricular pit, Curly hair, Dermal translucency, Slow-growing hair, Highly arched eyebrow, Poly... OMIM:617506
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Atrophic scars, Skin dimple, Sp... ORPHA:79133
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Skin rash, Hypopigmented skin patches, Skin ulce... ORPHA:47
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Nail dystrophy, Thin skin, Erythroderma, Failure to thrive OMIM:615895
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin ORPHA:1114
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hyperkerat... OMIM:602400
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Dermatofibrosarcoma Protuberans
Erythema, Subcutaneous nodule, Skin ulcer ORPHA:31112
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Dehydration OMIM:602722
Tuberculosis
Weight loss ORPHA:3389
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Small for gestational age, Dehydration, Arthrogryposis multiplex congenita, Fai... OMIM:208085
Cushing Disease
Sparse scalp hair, Striae distensae, Acne, Dorsocervical fat pad, Increased body weight, Recurren... ORPHA:96253
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elbow flexion contracture, Pyoderma gangrenosum, Knee flexion contracture, Cellulitis, Cyst... OMIM:604416
Carnitine Deficiency, Systemic Primary
Failure to thrive, Dehydration OMIM:212140
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Eosinophilic Fasciitis
Macule, Fasciitis, Edema, Subcutaneous nodule, Weight loss, Cellulitis, Muscular edema ORPHA:3165
Recon Progeroid Syndrome
Absent lower eyelashes, Scaling skin, Thin skin, Dry skin, Hirsutism OMIM:620370
Dermatosparaxis Ehlers-Danlos Syndrome
Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Hiatus hernia,... ORPHA:1901
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Cellulitis, Erysipelas ORPHA:79452
Marshall-Smith Syndrome
Failure to thrive, Generalized hirsutism, Thin skin ORPHA:561
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Alopecia, Scaling skin on fingertip, Honeycomb palmoplantar hyperkeratosis, Palmop... ORPHA:79395
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebro... OMIM:610768
Pyoderma Gangrenosum
Pustule, Skin ulcer, Atrophic scars, Skin vesicle, Papule ORPHA:48104
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Erythema, Skin ulcer, Palmoplantar keratoderma, Skin fissure, Sparse hair ORPHA:659
Warburg-Cinotti Syndrome
Ankle flexion contracture, Erythema, Elbow flexion contracture, Joint swelling, Thin skin, Follic... OMIM:618175
Progressive Nodular Histiocytosis
Subcutaneous nodule, Papule, Cachexia ORPHA:158022
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis, Multiple lentigines, Cafe-au-l... OMIM:145250
Osteootohepatoenteric Syndrome
Pruritus, Failure to thrive, Dehydration, Weight loss OMIM:619377
De Barsy Syndrome
Inguinal hernia, Lipodystrophy, Cutis laxa, Excessive wrinkled skin, Thin skin, Sparse hair, Umbi... ORPHA:2962
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Hyperkeratosis, Skin ulcer, Fine hair ORPHA:1806
Methylmalonyl-Coa Epimerase Deficiency
Failure to thrive, Dehydration OMIM:251120
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Inguinal hernia, Excessive wrinkled skin, Molluscoid pseudotumors, Thin skin, Follicular hyperker... OMIM:225400
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Failure to thrive, Lipoatrophy, Aplasia/Hypoplasia of the skin,... ORPHA:79474
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Failure to thrive, Dehydration OMIM:264350
Follicular Lymphoma
Skin nodule, Pleural effusion, Weight loss, Lymphedema ORPHA:545
Acth-Independent Macronodular Adrenal Hyperplasia
Truncal obesity, Thin skin, Striae distensae OMIM:219080
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Skin rash, Edema, Sparse eyebrow, Low posterior hairline, Hyperkeratosis,... OMIM:604173
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Acantholysis, Skin-colored papule, Punctate palmoplantar hyperkeratosis, Leukonych... ORPHA:79151
Epidermolysis Bullosa, Junctional 1B, Severe
Death in infancy, Congenital localized absence of skin, Atrophic scars, Nail dystrophy, Enamel hy... OMIM:226700
Classical-Like Ehlers-Danlos Syndrome Type 1
Thin skin ORPHA:230839
Pigmented Nodular Adrenocortical Disease, Primary, 2
Truncal obesity, Thin skin, Striae distensae OMIM:610475
Flynn-Aird Syndrome
Alopecia, Skin ulcer, Dermal atrophy, Cachexia ORPHA:2047
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Synophrys, Widow's peak, Upper eyelid edema, Thin skin, Thin eyebrow, Cafe-au-lait spot OMIM:617804
Stuve-Wiedemann Syndrome 1
Death in infancy, Elbow flexion contracture, Knee flexion contracture, Thin skin, Camptodactyly, ... OMIM:601559
Prolidase Deficiency
Eczema, Crusting erythematous dermatitis, Skin ulcer, Low posterior hairline, Facial hirsutism, F... OMIM:170100
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Flexion contracture, Lack of skin elasti... ORPHA:90153
Autosomal Dominant Hyper-Ige Syndrome
Skin rash, Eczema, Pruritus, Abnormal hair morphology, Skin ulcer, Cellulitis, Skin vesicle, Dyst... ORPHA:2314
Congenital Short Bowel Syndrome
Failure to thrive, Dehydration OMIM:615237
Nodular Non-Suppurative Panniculitis
Aplasia/Hypoplasia of the skin, Edema, Subcutaneous nodule, Erythema, Weight loss, Panniculitis ORPHA:33577
Peeling Skin Syndrome 4
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Orthokeratosis OMIM:607936
Ehlers-Danlos Syndrome, Periodontal Type, 1
Inguinal hernia, Hiatus hernia, Atrophic scars, Thin skin, Palmoplantar cutis laxa, Umbilical hernia OMIM:130080
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Atopic dermatitis, Skin ulcer ORPHA:217390
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... OMIM:300918
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Dehydration OMIM:203400
Idiopathic Achalasia
Weight loss ORPHA:930
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis, White scaling skin OMIM:604777
Free Sialic Acid Storage Disease
Ascites, Failure to thrive in infancy, Hydrops fetalis, Skin ulcer ORPHA:834
Majeed Syndrome
Inflammatory abnormality of the skin, Acne, Edema, Cachexia, Pustule, Flexion contracture, Weight... ORPHA:77297
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Dehydration OMIM:610600
Calciphylaxis
Abnormality of skin physiology, Skin ulcer, Cellulitis ORPHA:280062
Microvillus Inclusion Disease
Pruritus, Dehydration ORPHA:2290
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Skin rash, Edema, Pruritus, Weight loss, Palmoplantar pustulosis ORPHA:324964
Familial Benign Chronic Pemphigus
Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion ORPHA:2841
Enteric Anendocrinosis
Dehydration ORPHA:83620
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration OMIM:606824
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Beta-Ketothiolase Deficiency
Weight loss, Pallor, Edema, Dehydration ORPHA:134
Secondary Short Bowel Syndrome
Failure to thrive, Dehydration, Weight loss ORPHA:95427
Isovaleric Acidemia
Dehydration OMIM:243500
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Congenital diaphragmatic hernia, Thin skin, Camptodactyly, Failure... OMIM:617602
Glucose-Galactose Malabsorption
Failure to thrive, Dehydration, Weight loss ORPHA:35710
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Nail dystrophy, Thin skin, Dermal ... ORPHA:90154
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Dehydration OMIM:177735
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Alopecia, Pustule, Erythema, Skin ulcer, Weight loss, Dry skin, Fail... ORPHA:37
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Familial Multiple Nevi Flammei
Hypermelanotic macule, Edema, Skin ulcer, Nevus flammeus, Papule ORPHA:624
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Pyoderma gangrenosum, Recurrent skin infections OMIM:616576
Geroderma Osteodysplastica
Redundant skin, Thin skin, Hernia ORPHA:2078
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Weight loss, Erythematous plaque, Panniculitis, Erythematous papule ORPHA:86884
Focal Facial Dermal Dysplasia Type Iii
Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Hi... ORPHA:1807
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Leishmaniasis
Skin ulcer, Weight loss, Pallor, Skin plaque, Papule ORPHA:507
Lysosomal Acid Lipase Deficiency
Cachexia, Pruritus, Dehydration, Weight loss, Ascites, Xanthelasma, Xanthomatosis, Failure to thrive ORPHA:275761
Pigmented Nodular Adrenocortical Disease, Primary, 1
Truncal obesity, Thin skin, Striae distensae OMIM:610489
Papa Syndrome
Pustule, Acne, Skin ulcer ORPHA:69126
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Dehydration ORPHA:556030
Cystinosis
Failure to thrive, Dehydration ORPHA:213
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrophic scars, Inguinal hernia, Thin skin, Thick eyebrow ORPHA:230851
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Reduced subcutaneous adipose tis... OMIM:606721
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Dehydration OMIM:251000
Congenital Tufting Enteropathy
Failure to thrive, Dehydration, Weight loss ORPHA:92050
Reynolds Syndrome
Skin rash, Pruritus, Xerostomia, Skin ulcer, Ascites ORPHA:779
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Acral ulceration, Skin ulcer ORPHA:139578
Acrofacial Dysostosis Syndrome Of Rodriguez
Thin skin OMIM:201170
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Inguinal hernia, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Spars... OMIM:129900
Arterial Tortuosity Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contracture, Cutis laxa,... OMIM:208050
Kyphoscoliotic Ehlers-Danlos Syndrome
Inguinal hernia, Synophrys, Atypical scarring of skin, Thin skin, Follicular hyperkeratosis, Umbi... ORPHA:536545
Glass Syndrome
Inguinal hernia, Long eyelashes, Thin skin, Camptodactyly, Sparse hair OMIM:612313
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Nail dystrophy, Thin skin, Sparse hair, Dermal translucency OMIM:612199
Huntington Disease-Like 2
Weight loss ORPHA:98934
Polyarteritis Nodosa
Erythema, Subcutaneous nodule, Skin ulcer, Weight loss ORPHA:767
Ablepharon Macrostomia Syndrome
Omphalocele, Absent eyebrow, Camptodactyly of finger, Abnormal hair pattern, Redundant skin, Abse... ORPHA:920
Acquired Purpura Fulminans
Macule, Erythematous macule, Skin rash, Pyoderma gangrenosum, Macular purpura ORPHA:49566
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alo... ORPHA:251393
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Failure to thrive OMIM:143860
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dermal translucency, Multiple joint contractures, Atrophic scars, Thin skin, Dentinogenesis imper... ORPHA:536467
Cushing Syndrome Due To Ectopic Acth Secretion
Sparse scalp hair, Striae distensae, Acne, Dorsocervical fat pad, Increased body weight, Recurren... ORPHA:99889
Classic Hodgkin Lymphoma
Pruritus, Skin rash, Weight loss ORPHA:391
Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Inguinal hernia, Multiple joint contractures, Numerous nevi, Lymphedema, Flexi... ORPHA:536471
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Failure to thrive, Dehydration OMIM:615453
Incontinentia Pigmenti
Alopecia, Skin rash, Abnormal dental enamel morphology, Supernumerary nipple, Camptodactyly of fi... ORPHA:464
Reactive Arthritis
Pustule, Enthesitis, Weight loss, Joint swelling, Hyperkeratosis, Dystrophic fingernails ORPHA:29207
Kaufman Oculocerebrofacial Syndrome
Sparse eyebrow, Thin skin, Sparse hair, Preauricular skin tag, Failure to thrive OMIM:244450
Multicentric Reticulohistiocytosis
Skin nodule, Cachexia ORPHA:139436
Neutrophilic Dermatosis, Acute Febrile
Erythema, Pyoderma gangrenosum, Panniculitis, Cystic acne, Acne inversa OMIM:608068
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Nail dystrophy, Congenital localized absence of skin OMIM:132000
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss, Pallor, Edema, Dehydration ORPHA:20
Limited Cutaneous Systemic Sclerosis
Joint contracture of the hand, Foot joint contracture, Hypopigmented skin patches, Skin ulcer ORPHA:220402
Even-Plus Syndrome
Highly arched eyebrow, Synophrys, Atopic dermatitis, Sparse hair, Aplasia cutis congenita, Oligoh... OMIM:616854
Meier-Gorlin Syndrome 1
Death in infancy, Failure to thrive, Small for gestational age, Flexion contracture, Long eyelash... OMIM:224690
Adrenal Hypoplasia, Congenital
Failure to thrive, Dehydration OMIM:300200
Acute Myelomonocytic Leukemia
Pallor, Weight loss ORPHA:517
Wolcott-Rallison Syndrome
Ascites, Dehydration, Decreased body weight ORPHA:1667
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Aplasia cutis congenita on trunk or limbs, Recurrent skin infections, Scarring, Erythem... ORPHA:79396
Buerger Disease
Skin ulcer ORPHA:36258
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Sparse scalp hair, Failure to thrive, Edema, Cutis laxa, Frontal upsweep of hair, Thin skin, Umbi... OMIM:266920
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Livedoid Vasculopathy
Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Skin ulcer, P... ORPHA:542643
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Recurrent skin infections, Edema, Skin erosion, Dehydration, Skin plaque, Pyoderma, Nai... ORPHA:79404
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Premature graying of hair, Thin skin OMIM:112250
Takayasu Arteritis
Subcutaneous nodule, Skin ulcer, Weight loss ORPHA:3287
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Erythema, Hydrops fetalis, Dehydration, Pallor, Death in childhood, Fa... OMIM:557000
Juvenile Dermatomyositis
Alopecia, Skin rash, Palpebral edema, Pruritus, Erythema, Skin ulcer, Weight loss, Dry skin ORPHA:93672
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Elbow flexion contracture, Knee flexion contracture, Cutis laxa, Thin skin, Spar... OMIM:151050
Dermatomyositis
Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Edema, Periorbital edema, Pruritus, Eryth... ORPHA:221
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Drug Reaction With Eosinophilia And Systemic Symptoms
Macule, Skin rash, Pustule, Angioedema, Erythema, Weight loss, Erythroderma ORPHA:139402
3-Methylglutaconic Aciduria, Type Viib
Flexion contracture, Polyhydramnios, Dehydration OMIM:616271
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Arterial Tortuosity Syndrome
Inguinal hernia, Femoral hernia, Redundant skin, Hiatus hernia, Thin skin ORPHA:3342
Pseudomyxoma Peritonei
Ascites, Hernia, Weight loss ORPHA:26790
Holocarboxylase Synthetase Deficiency
Alopecia, Weight loss, Eczema, Perioral eczema ORPHA:79242
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Dermatoosteolysis, Kirghizian Type
Skin ulcer, Aplasia/Hypoplasia of the skin, Dystrophic fingernails, Dystrophic toenail ORPHA:1657
Progressive Hemifacial Atrophy
Aplasia/Hypoplasia of the skin ORPHA:1214
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Yao Syndrome
Xerostomia, Inflammatory abnormality of the skin, Skin rash, Weight loss OMIM:617321
Ollier Disease
Subcutaneous nodule, Skin ulcer ORPHA:296
Benign Recurrent Intrahepatic Cholestasis
Pruritus, Weight loss ORPHA:65682
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Polyhydramnios, Dehydration OMIM:214700
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Hirsutism, Dehydration ORPHA:90791
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema... ORPHA:69735
Brooke-Spiegler Syndrome
Skin-colored papule, Skin nodule, Skin ulcer, Nodular changes affecting the eyelids ORPHA:79493
Wilson Disease
Pruritus, Increased body weight, Weight loss, Joint swelling, Failure to thrive ORPHA:905
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Thin skin ORPHA:449291
Congenital Muscular Dystrophy Due To Lmna Mutation
Death in infancy, Flexion contracture, Cachexia ORPHA:157973
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Dehydration OMIM:251110
Poems Syndrome
Lipodystrophy, Edema, Pericardial effusion, Abnormality of skin physiology, Leukonychia, Weight l... ORPHA:2905
Ataxia-Telangiectasia
Hypopigmentation of hair, Aplasia/Hypoplasia of the skin, Premature graying of hair, Multiple caf... ORPHA:100
Rothmund-Thomson Syndrome
Plantar hyperkeratosis, Aplasia/Hypoplasia of the skin, Skin rash, Sparse eyelashes, Alopecia tot... ORPHA:2909
Eosinophilic Gastroenteritis
Ascites, Atopic dermatitis, Edema, Weight loss ORPHA:2070
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Inguinal hernia, Thin skin ORPHA:2719
Cholera
Palmoplantar cutis laxa, Miscarriage, Dehydration ORPHA:173
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Alternating Hemiplegia Of Childhood
Pallor, Failure to thrive, Thin eyebrow, Dehydration ORPHA:2131
Toxic Epidermal Necrolysis
Macule, Acantholysis, Erythema, Skin ulcer, Weight loss ORPHA:537
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Acne, Pustule, Skin nodule, Pyoderma gangrenosum, E... ORPHA:3243
Pleural Mesothelioma
Pleural effusion, Weight loss ORPHA:50251
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Alopecia, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Dermal atrophy, Skin... ORPHA:257
Isaacs Syndrome
Weight loss ORPHA:84142
Xfe Progeroid Syndrome
Failure to thrive, Cachexia, Absence of subcutaneous fat, Corneal scarring, Death in adolescence,... OMIM:610965
Dyskeratosis Congenita
Macule, Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the skin, Hypermelanotic mac... ORPHA:1775
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Dehydration OMIM:251100
Renal Hypoplasia
Small for gestational age, Dehydration ORPHA:93101
Kikuchi-Fujimoto Disease
Macule, Erythematous macule, Alopecia, Skin rash, Palpebral edema, Pruritus, Pustule, Skin nodule... ORPHA:50918
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashe... OMIM:264090
Fusariosis
Fasciitis, Maculopapular exanthema, Subcutaneous nodule, Skin ulcer, Panniculitis, Cellulitis, Pl... ORPHA:228119
Cronkhite-Canada Syndrome
Alopecia, Cachexia, Lymphedema, Dystrophic toenail, Patchy alopecia, Dystrophic fingernails, Spar... ORPHA:2930
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Edema, Lymphedema, Abnormal eyelash morphology, Abnormal hair morphology, Subcutane... ORPHA:2526
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Dehydration, Oligohydramnios OMIM:263200
Kindler Epidermolysis Bullosa
Aplasia/Hypoplasia of the skin, Recurrent skin infections, Abnormal dental enamel morphology, Cam... ORPHA:2908
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Pyoderma gangrenosum, Chronic oral candidiasis OMIM:150550
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Polyhydramnios, Flexion contracture, Neonatal death, Arthrogryp... OMIM:618186
Oligomeganephronia
Congenital diaphragmatic hernia, Small for gestational age, Dehydration ORPHA:2260
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Inguinal hernia, Death in infancy, Abnormal dental enamel morphology, Dehydrat... ORPHA:534
Infantile Myofibromatosis
Abnormal hair morphology, Subcutaneous nodule, Skin ulcer, Chondrocalcinosis ORPHA:2591
Stiff Skin Syndrome
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Lipoatrophy, Lack of skin elasticity ORPHA:2833
Ablepharon-Macrostomia Syndrome
Ventral hernia, Absent eyebrow, Omphalocele, Redundant skin, Absent eyelashes, Hypoplastic nipple... OMIM:200110
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Failure to thrive, Recurrent skin infecti... ORPHA:3455
Immunoglobulin A Vasculitis
Macule, Skin rash, Edema, Pustule, Angioedema, Erythema, Skin ulcer, Purpura ORPHA:761
Aggressive Systemic Mastocytosis
Pruritus, Ascites, Maculopapular exanthema, Weight loss ORPHA:98850
Shigellosis
Failure to thrive in infancy, Dehydration, Purpura ORPHA:810
Vipoma
Erythema, Dehydration, Weight loss, Ascites, Subcutaneous lipoma ORPHA:97282
Christianson Syndrome
Arthrogryposis multiplex congenita, Cachexia, Death in early adulthood, Thick eyebrow ORPHA:85278
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Pruritus, Subcutaneous nodule, Skin ulcer, Papule ORPHA:556
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Hypertonic dehydration OMIM:125800
Helsmoortel-Van Der Aa Syndrome
Obesity, Truncal obesity, Thin skin, High anterior hairline, Failure to thrive OMIM:615873
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Hypertonic dehydration OMIM:304800
Bone Dysplasia, Lethal Holmgren Type
Redundant neck skin, Failure to thrive, Hernia, Weight loss ORPHA:1842
Kosaki Overgrowth Syndrome
Xanthelasma, Thin skin OMIM:616592
Chronic Granulomatous Disease
Macule, Eczema, Skin ulcer, Hypermelanotic macule ORPHA:379
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Scarring, Pruritus, Palmoplantar keratoderma, Nail dystro... ORPHA:158668
Isolated Permanent Neonatal Diabetes Mellitus
Dehydration, Weight loss, Lower-limb joint contracture, Arthrogryposis multiplex congenita, Failu... ORPHA:99885
Infantile Systemic Hyalinosis
Camptodactyly of finger, Lymphedema, Subcutaneous nodule, Skin ulcer, Failure to thrive ORPHA:2176
Thymic Carcinoma
Palpebral edema, Edema, Weight loss ORPHA:99868
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Pallor, Lymphedema ORPHA:3226
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Highly arched eyebrow, Asymmetric, linear skin defects, Nail dys... OMIM:300887
Idiopathic Chronic Eosinophilic Pneumonia
Pleural effusion, Atopic dermatitis, Weight loss ORPHA:2902
Blau Syndrome
Eczema, Camptodactyly of finger, Erythema nodosum, Intermittent generalized erythematous papular ... OMIM:186580
Huntington Disease-Like 2
Weight loss OMIM:606438
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Xp22.3 Microdeletion Syndrome
Sacral dimple, Aplasia/Hypoplasia of the skin ORPHA:1643
Autosomal Dominant Severe Congenital Neutropenia
Pyoderma gangrenosum, Recurrent skin infections, Cellulitis ORPHA:486
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Acne, Miscarriage, Frontal balding, Dehydration, Weight loss, Failure to thrive, Hirsutism ORPHA:90794
Mulibrey Nanism
Cachexia ORPHA:2576
Leprosy
Urticarial plaque, Absent eyebrow, Alopecia, Hypopigmented macule, Skin nodule, Loss of eyelashes... ORPHA:548
Familial Renal Glucosuria
Dehydration ORPHA:69076
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Generalized hirsutism, Skin ulcer ORPHA:2218
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism ORPHA:2221
Aicardi-Goutieres Syndrome 9
Chilblains, Edema, Pericardial effusion, Dry skin, Weight loss, Ascites, Failure to thrive OMIM:619487
Malignant Peritoneal Mesothelioma
Ascites, Pedal edema, Weight loss ORPHA:168811
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Thin skin OMIM:166200
Microscopic Polyangiitis
Erythema, Subcutaneous nodule, Skin rash, Skin ulcer ORPHA:727
Dend Syndrome
Dehydration ORPHA:79134
Eec Syndrome
Aplasia/Hypoplasia of the skin, Slow-growing hair, Abnormal dental enamel morphology, Sparse eyeb... ORPHA:1896
Microsporidiosis
Cachexia, Skin nodule, Dehydration, Weight loss ORPHA:2552
Juvenile Huntington Disease
Weight loss ORPHA:248111
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Hydrops fetalis, Dehydration ORPHA:79282
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Subcutaneous nodule, Hypopigmented skin patches, Weight loss, Papule, Purpura ORPHA:183
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Abnormal dental enamel morphology, Weight loss, Melanocytic nevus, Hype... ORPHA:79430
Rhabdoid Tumor
Subcutaneous nodule, Weight loss ORPHA:69077
Colchicine Poisoning
Alopecia, Dehydration ORPHA:31824
Mcdonough Syndrome
Synophrys, Cachexia ORPHA:2471
Acrofacial Dysostosis, Palagonia Type
Aplasia/Hypoplasia of the skin, Sparse eyelashes, Low anterior hairline, Dermal atrophy, Thin eye... ORPHA:1787
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Chime Syndrome
Erythema, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair ORPHA:3474
Pyruvate Carboxylase Deficiency
Failure to thrive, Dehydration ORPHA:3008
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Cachexia, Thin eyebrow ORPHA:3242
Stevens-Johnson Syndrome
Macule, Erythema, Weight loss, Acantholysis ORPHA:36426
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Systemic Sclerosis
Alopecia, Recurrent skin infections, Cutaneous sclerotic plaque, Pruritus, Digital pitting scar, ... ORPHA:90291
Dopamine Beta-Hydroxylase Deficiency
Dehydration ORPHA:230
Short Syndrome
Inguinal hernia, Alopecia, Lipodystrophy, Abnormal dental enamel morphology, Weight loss, Excessi... ORPHA:3163
Osteosarcoma
Joint swelling, Weight loss ORPHA:668
Pgm3-Cdg
Recurrent skin infections, Eczema, Atopic dermatitis, Skin ulcer, Failure to thrive, Cutaneous ab... ORPHA:443811
Hereditary Spherocytosis
Maculopapular exanthema, Pallor, Skin ulcer ORPHA:822
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion, Weight loss ORPHA:411703
Pearson Syndrome
Small for gestational age, Hydrops fetalis, Dehydration, Corneal stromal edema, Cafe-au-lait spot ORPHA:699
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Atrichia, Scaling skin, Death in childhood, Neonatal death, Dystrophic fingernails, Subungual hyp... OMIM:308205
Pneumocystosis
Pleural effusion, Weight loss, Chronic oral candidiasis ORPHA:723
Non-Functioning Paraganglioma
Pallor, Weight loss ORPHA:94080
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Bare Lymphocyte Syndrome, Type I
Skin ulcer OMIM:604571
Peripheral Primitive Neuroectodermal Tumor
Pruritus, Ascites, Weight loss ORPHA:370348
Infantile Nephropathic Cystinosis
Failure to thrive, Dehydration ORPHA:411629
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Adams-Oliver Syndrome 2
Aplasia cutis congenita, Alopecia, Low anterior hairline, Oligohydramnios OMIM:614219
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Dry skin, Skin rash, Dermal atrophy, Cachexia ORPHA:220295
Familial Thrombocytosis
Pruritus, Miscarriage, Weight loss ORPHA:71493
Wild Type Attr Amyloidosis
Pleural effusion, Weight loss, Pedal edema, Pulmonary edema ORPHA:330001
Adams-Oliver Syndrome
Alopecia, Aplasia/Hypoplasia of the skin, Ascites, Sparse hair, Aplasia cutis congenita, Failure ... ORPHA:974
Desmoplastic Small Round Cell Tumor
Ascites, Cachexia, Weight loss ORPHA:83469
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Isolated Succinate-Coq Reductase Deficiency
Weight loss, Knee flexion contracture ORPHA:3208
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Camptodactyly of finger, Polyhydramnios ORPHA:2774
Lymphoid Interstitial Pneumonia
Skin rash, Eczema, Weight loss, Abnormality of connective tissue, Failure to thrive ORPHA:79128
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Failure to thrive, Dehydration ORPHA:168558
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Bartter Syndrome Type 4
Small for gestational age, Polyhydramnios, Dehydration, Severe failure to thrive, Failure to thrive ORPHA:89938
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Failure to thrive, Dehydration ORPHA:289548
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Failure to thrive in infancy, Cachexia OMIM:616801
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Cystinosis, Nephropathic
Hypopigmentation of hair, Failure to thrive in infancy, Dehydration, Weight loss OMIM:219800
Barber-Say Syndrome
Aplasia/Hypoplasia of the skin, Redundant skin, Sparse or absent eyelashes, Breast aplasia, Hypop... ORPHA:1231
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Liposarcoma
Subcutaneous nodule, Weight loss ORPHA:69078
Xeroderma Pigmentosum Variant
Dry skin, Dermal atrophy ORPHA:90342
Cryoglobulinemic Vasculitis
Petechiae, Skin ulcer, Purpura ORPHA:91138
Gm1 Gangliosidosis
Inguinal hernia, Camptodactyly of finger, Hydrops fetalis, Weight loss, Failure to thrive, Genera... ORPHA:354
Distal Renal Tubular Acidosis
Failure to thrive, Dehydration ORPHA:18
Acute Monoblastic/Monocytic Leukemia
Periorbital edema, Subcutaneous nodule, Weight loss ORPHA:514
Multiple Endocrine Neoplasia Type 1
Dehydration, Weight loss, Large cafe-au-lait macules with irregular margins, Multiple lipomas, Co... ORPHA:652
Bartter Syndrome, Type 1, Antenatal
Small for gestational age, Polyhydramnios, Dehydration, Failure to thrive, Chondrocalcinosis OMIM:601678
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Xerostomia, Skin ulcer ORPHA:220393
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Urticarial plaque, Skin rash, Eczema, Erythema nodosum, Skin ulcer, Panniculitis, Purpura OMIM:615688
Giant Cell Arteritis
Alopecia, Skin ulcer, Weight loss ORPHA:397
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Weight loss, Pleural effusion, Ascites, Generalized edema ORPHA:90362
Neuroleptic Malignant Syndrome
Dehydration ORPHA:94093
Celiac Disease, Susceptibility To, 1
Alopecia, Eczema, Weight loss, Enamel hypoplasia, Failure to thrive OMIM:212750
Rat-Bite Fever
Skin rash, Maculopapular exanthema, Erythema nodosum, Pustule, Weight loss, Scaling skin, Morbill... ORPHA:31205
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Death in early adulthood, Alopecia, Brittle hair, D... OMIM:608612
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Polyhydramnios, Scarring alopecia of scalp, Skin erosi... ORPHA:158684
Marburg Hemorrhagic Fever
Skin rash, Petechiae, Maculopapular exanthema, Dehydration ORPHA:99826
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Lack of skin elasticity, Dermal atro... OMIM:615381
Huntington Disease-Like 1
Weight loss ORPHA:157941
Oculocerebrocutaneous Syndrome
Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Congenital diaphragmatic hernia, Hypopigment... ORPHA:1647
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Recurrent skin infections, Nevus, Skin erosion, Flexion contracture, Atypical scarring of skin, D... ORPHA:89842
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Systemic Capillary Leak Syndrome
Pleural effusion, Weight loss, Pedal edema, Pulmonary edema ORPHA:188
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Failure to thrive, Polyhydramnios ORPHA:223
Juvenile Nephropathic Cystinosis
Failure to thrive, Dehydration ORPHA:411634
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Scaling skin, Spar... OMIM:604536
Mast Cell Sarcoma
Weight loss ORPHA:66661
Pfapa Syndrome
Weight loss ORPHA:42642
Loeys-Dietz Syndrome
Atypical scarring of skin, Striae distensae, Camptodactyly of finger, Thin skin ORPHA:60030
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Premature graying of hair, Excessive wrinkled skin, Nail dystrophy, Dermal atr... ORPHA:3322
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Pustule, Subcutaneous nodule, Cerebral edema, Skin ulcer, Papule ORPHA:68
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Polyhydramnios, Dehydration, Failure to thrive, Chondrocalcinosis OMIM:241200
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Skin rash, Trichiasis, Acantholysis, Xerostomia, Skin ulcer... ORPHA:95455
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Aredyld Syndrome
Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Sparse body hair, Aplasia/Hypoplasia of... ORPHA:1133
Rothmund-Thomson Syndrome Type 1
Plantar hyperkeratosis, Small for gestational age, Alopecia totalis, Abnormal dental enamel morph... ORPHA:221008
Refractory Celiac Disease
Inflammatory abnormality of the skin, Weight loss ORPHA:398063
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Skin ulcer OMIM:613640
Vascular Ehlers-Danlos Syndrome
Macule, Alopecia, Inguinal hernia, Redundant skin, Abnormality of hair texture, Abnormal eyelash ... ORPHA:286
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Rothmund-Thomson Syndrome Type 2
Plantar hyperkeratosis, Small for gestational age, Alopecia totalis, Abnormal dental enamel morph... ORPHA:221016
Tetrasomy 12P
Sparse hair, Cachexia, Sparse eyebrow ORPHA:884
Paternal Uniparental Disomy Of Chromosome 6
Umbilical hernia, Dehydration, Oligohydramnios ORPHA:96191
Restrictive Dermopathy
Multiple joint contractures, Short nail, Polyhydramnios, Epidermal hyperkeratosis, Sparse eyebrow... ORPHA:1662
Granulomatosis With Polyangiitis
Skin rash, Periorbital edema, Skin ulcer, Weight loss, Papule, Purpura ORPHA:900
Primary Myelofibrosis
Cachexia, Pallor, Ecchymosis, Petechiae, Purpura ORPHA:824
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer ORPHA:424019
Malignant Atrophic Papulosis
Pleural effusion, Dermal atrophy, Papule, Weight loss ORPHA:679
Adrenocortical Carcinoma
Weight loss, Increased body weight, Striae distensae, Hypertrichosis ORPHA:1501
Perry Syndrome
Weight loss ORPHA:178509
Immunodeficiency 27A
Weight loss OMIM:209950
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Recurrent skin infections, Eczema,... ORPHA:37042
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Acral ulceration OMIM:613115
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pruritus, Pallor, Weight loss ORPHA:98849
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Ménétrier Disease
Peripheral edema, Weight loss ORPHA:2494
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Severe failure to... ORPHA:371364
Primary Fanconi Renotubular Syndrome
Dehydration, Weight loss ORPHA:3337
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Generalized hirsutism, Cachexia ORPHA:1933
Focal Myositis
Weight loss ORPHA:48918
Hyperoxaluria, Primary, Type I
Dehydration OMIM:259900
Attenuated Chédiak-Higashi Syndrome
Skin ulcer ORPHA:352723
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Dehydration ORPHA:90038