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Gene: Zfp750 MGI:2442210

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Gene Summary

Name:
zinc finger protein 750
Synonyms:
A030007D23Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Zfp750em1(IMPC)J HOM   Early adult 0.00

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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.

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Electrocardiogram (ECG)

Waveform Image

11 Images

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Auditory Brain Stem Response

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

7 Images

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Human diseases caused by Zfp750 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 Zfp750 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227

The table below shows human diseases predicted to be associated to Zfp750 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Palmoplantar keratoderma, Edema, Orthokeratotic hyperkeratosis, Excessive skin... ORPHA:498359
Lamellar Ichthyosis
Dry skin, Lack of skin elasticity, Erythroderma, Aplasia/Hypoplasia of the eyebrow, Ectropion, Pr... ORPHA:313
Combined Oxidative Phosphorylation Deficiency 36
Hyperalaninemia, Upslanted palpebral fissure, Failure to thrive, Premature skin wrinkling OMIM:617950
Ulerythema Ophryogenesis
Hyperkeratotic papule, Sparse lateral eyebrow, Dry skin, Facial erythema, Follicular hyperkeratos... ORPHA:3406
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Skin ulcer, Cutaneous photosensitivity, Conjunctival hamartoma, Weight ... ORPHA:312
Transaldolase Deficiency
Premature skin wrinkling, Abnormal circulating glutamine concentration, Increased serum bile acid... ORPHA:101028
Harlequin Ichthyosis
Self-injurious behavior, Erythroderma, Ectropion, Hyperkeratosis, Dehydration ORPHA:457
Chronic Hiccup
Abnormal eating behavior, Weight loss, Dehydration ORPHA:396
Elastoderma
Cutis laxa, Eczematoid dermatitis, Erysipelas, Premature skin wrinkling ORPHA:228240
Erythrokeratodermia Variabilis
Erythema, Dry skin, Patchy palmoplantar hyperkeratosis, Skin rash, Cutaneous photosensitivity, We... ORPHA:317
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Familial Cold Urticaria
Erythema, Polydipsia, Conjunctivitis, Pruritus, Dehydration, Urticaria ORPHA:47045
Reticular Dysgenesis
Failure to thrive, Skin ulcer, Skin rash, Weight loss, Dehydration ORPHA:33355
Barber-Say Syndrome
Failure to thrive, Ectropion, Telecanthus, Sparse or absent eyelashes, Redundant skin, Aplasia/Hy... ORPHA:1231
Alg8-Cdg
Failure to thrive, Abnormality of subcutaneous fat tissue, Premature skin wrinkling, Ascites, Oli... ORPHA:79325
Classic Mycosis Fungoides
Erythema, Eczematoid dermatitis, Skin ulcer, Dry skin, Skin rash, Abnormal eyelid morphology, Pru... ORPHA:2584
Microphthalmia, Syndromic 8
Short palpebral fissure, Blepharophimosis, Premature skin wrinkling OMIM:601349
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Hyponatremia, Weight loss, Anorexia, Dehydration ORPHA:178029
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:79159
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Long eyelashes, Pustule, Polyhydramnios, Dehydration OMIM:616069
Combined Oxidative Phosphorylation Deficiency 47
Ptosis, Dysphagia, Failure to thrive, Dehydration OMIM:618958
Cog7-Cdg
Failure to thrive, Excessive wrinkled skin, Elevated circulating creatine kinase concentration, J... ORPHA:79333
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Failure to thrive, Dehydration, Methylmalonic acidemia ORPHA:289504
Dermatoleukodystrophy
Progeroid facial appearance, Premature skin wrinkling OMIM:221790
Bartsocas-Papas Syndrome 1
Axillary pterygium, Popliteal pterygium, Ankyloblepharon, Pterygium, Dry skin, Lower eyelid colob... OMIM:263650
Acquired Ichthyosis
Erythema, Palmoplantar keratoderma, Dry skin, Recurrent skin infections, Pruritus, Hyperkeratosis ORPHA:454
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Ascites, Weight loss, Palmoplantar keratoderma, Dysphagia ORPHA:2198
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu... OMIM:610600
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Abdominal obesity, Premature skin wrinkling ORPHA:631
Netherton Syndrome
Sparse eyebrow, Eczematoid dermatitis, Angioedema, Failure to thrive, Hypernatremic dehydration, ... OMIM:256500
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Failure to thrive in infancy, Increased circulating renin level, Pustule, Hypo... ORPHA:171876
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Hyperammonemia, Dehydration ORPHA:28
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis OMIM:617571
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Palmoplantar keratoderma, Abnormal circulating lipid concentration, Premature graying of hair, Re... ORPHA:1979
Orbital Margin, Hypoplasia Of
Lower eyelid coloboma, Congenital extraocular muscle anomaly, Lacrimal duct atresia OMIM:165600
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Cutis Laxa, Autosomal Dominant 2
Cutis laxa, Premature skin wrinkling OMIM:614434
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Dehydration OMIM:601410
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Ectopic lacrimal punctum, Telecanthus, Lower eyelid coloboma, Absent lacrimal pun... OMIM:167730
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Edema, Abnormal circulating protein concentration, Weight loss, Abnormal circula... ORPHA:103910
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Short palpebral fissure, Eczematoid dermatitis, Downslanted palpebral fiss... ORPHA:3051
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration OMIM:614265
Craniofaciofrontodigital Syndrome
Lower eyelid edema, Premature skin wrinkling, Large for gestational age, Epicanthus, Palmoplantar... ORPHA:363705
Neu-Laxova Syndrome 2
Polyhydramnios, Ablepharon, Edema OMIM:616038
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticoste... ORPHA:556030
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Hyperammonemia, Dehydration, Anorexia ORPHA:79312
Ablepharon Macrostomia Syndrome
Cryptophthalmos, Dry skin, Redundant skin, Excessive wrinkled skin, Absent eyelashes, Absent eyeb... ORPHA:920
Netherton Syndrome
Sparse eyebrow, Eczematoid dermatitis, Dry skin, Skin rash, Sparse eyelashes, Erythroderma, Dehyd... ORPHA:634
Beta-Ketothiolase Deficiency
Edema, Pallor, Hyperammonemia, Hyperuricemia, Oral aversion, Agitation, Weight loss, Anorexia, De... ORPHA:134
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Death in childhood, Blepharophimosis, Small for gestational age, Dehydration OMIM:214150
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Sparse eyebrow, Inflammatory abnormality of the skin... OMIM:610768
Secondary Short Bowel Syndrome
Failure to thrive, Polyphagia, Low plasma citrulline, Weight loss, Steatorrhea, Abnormal blood io... ORPHA:95427
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Striae distensae, Increased body wei... ORPHA:64745
Richieri-Costa/Guion-Almeida Syndrome
Palmoplantar cutis laxa, Ptosis, Eyelid coloboma, Downslanted palpebral fissures OMIM:268850
Idiopathic Achalasia
Weight loss, Dysphagia, Decreased circulating prealbumin concentration ORPHA:930
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Hyperammonemia, Elevated circul... OMIM:212140
Treacher Collins Syndrome 4
Lower eyelid coloboma, Downslanted palpebral fissures OMIM:618939
Transient Neonatal Diabetes Mellitus
Failure to thrive, Small for gestational age, Dehydration ORPHA:99886
Moynahan Syndrome
Cachexia, Hyperkeratosis ORPHA:2574
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Dehydration, Increased circula... OMIM:177735
Autosomal Agammaglobulinemia
Failure to thrive, Skin rash, Epicanthus, Conjunctivitis, Recurrent skin infections, Dehydration ORPHA:33110
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Death in infancy, Dehydration OMIM:251850
Fraser Syndrome 3
Ascites, Cryptophthalmos, Oligohydramnios, Nonimmune hydrops fetalis, Stillbirth OMIM:617667
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Failure to thrive, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Dehydration OMIM:264350
Ablepharon-Macrostomia Syndrome
Premature skin wrinkling, Cryptophthalmos, Hypoplasia of eyelid, Dry skin, Redundant skin, Absent... OMIM:200110
Teebi Hypertelorism Syndrome 2
Ptosis, Upper eyelid coloboma, Thick eyebrow, Attention deficit hyperactivity disorder OMIM:619736
Myoclonic-Astatic Epilepsy
Attention deficit hyperactivity disorder, Hyperactivity, Premature skin wrinkling ORPHA:1942
Hypercalcemia, Infantile, 1
Weight loss, Hypercalcemia, Failure to thrive, Dehydration OMIM:143880
Cardiofaciocutaneous Syndrome
Palmoplantar keratoderma, Downslanted palpebral fissures, Lymphedema, Dry skin, Failure to thrive... ORPHA:1340
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Oculocerebrocutaneous Syndrome
Eyelid coloboma, Orbital cyst OMIM:164180
Short Syndrome
Premature skin wrinkling, Telecanthus, Reduced subcutaneous adipose tissue, Prominent superficial... OMIM:269880
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Death in childhood, Death in adolescence, Ptosis, Dehydration OMIM:560000
Methylmalonyl-Coa Epimerase Deficiency
Failure to thrive, Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystinemia, ... OMIM:251120
Lichen Planus Pemphigoides
Skin vesicle, Conjunctivitis, Pruritus, Hyperkeratosis, Blepharitis ORPHA:254478
Rhizomelic Chondrodysplasia Punctata, Type 2
Failure to thrive, Decreased circulating plasmalogen concentration OMIM:222765
Propionic Acidemia
Failure to thrive, Eczematoid dermatitis, Hyperglycinemia, Hyperammonemia, Dehydration OMIM:606054
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level OMIM:620125
Ichthyosis With Erythrokeratoderma
Erythema, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Parakeratosis, Erythrode... OMIM:620507
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level OMIM:203400
Congenital Short Bowel Syndrome
Steatorrhea, Failure to thrive, Dehydration OMIM:615237
Frontofacionasal Dysplasia
Telecanthus, Absent inner eyelashes, Upper eyelid coloboma, Ptosis, Blepharophimosis, Aplasia/Hyp... ORPHA:1791
Nicolaides-Baraitser Syndrome
Eczematoid dermatitis, Periorbital wrinkles, Downslanted palpebral fissures, Unilateral narrow pa... OMIM:601358
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Failure to thrive, Oligohydramnios, Death in infancy, Jaundice, Conjugated hyperbilirubinemia, Sm... OMIM:208085
Mantle Cell Lymphoma
Weight loss, Anorexia ORPHA:52416
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyebrow, Folliculitis, Palmoplantar keratoderma, Dry skin, Sparse eyelashes, Facial erythe... OMIM:308800
Oculoauriculofrontonasal Syndrome
Upper eyelid coloboma, Limbal dermoid ORPHA:398156
Pulmonary Blastoma
Weight loss ORPHA:64741
Geroderma Osteodysplasticum
Progeroid facial appearance, Premature skin wrinkling, Downslanted palpebral fissures, Neonatal w... OMIM:231070
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Downslanted palpebral fissures, Redundant skin, Ep... ORPHA:1807
Laryngeal Neuroendocrine Tumor
Weight loss, Elevated circulating carcinoembryonic antigen concentration, Oral-pharyngeal dysphag... ORPHA:100083
Burn-Mckeown Syndrome
Short palpebral fissure, Lower eyelid coloboma, Blepharophimosis OMIM:608572
Manitoba Oculotrichoanal Syndrome
Cryptophthalmos, Corneopalpebral synechiae, Eyelid coloboma, Nasolacrimal duct obstruction OMIM:248450
Cystinosis
Polydipsia, Failure to thrive, Hypokalemia, Hypophosphatemia, Motor stereotypy, Dehydration ORPHA:213
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ptosis, Failure to thrive, Hyperammonemia, Dehydration OMIM:615453
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Polyhydramnios, Hypochloremia, ... OMIM:214700
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Premature skin wrinkling, Absent eyelashes, Absent eyebrow, Hyperchole... ORPHA:363618
Toriello-Lacassie-Droste Syndrome
Short palpebral fissure, Failure to thrive, Telecanthus, Eyelid coloboma, Epicanthus, Blepharophi... ORPHA:3339
Bartsocas-Papas Syndrome
Popliteal pterygium, Ankyloblepharon, Sparse or absent eyelashes, Eyelid coloboma, Aplasia/Hypopl... ORPHA:1234
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Failure to thrive, Ascites, Xanthelasma, Hyponatremia, Cachexia, Weight loss, Hyper... ORPHA:275761
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Cryptophthalmos, Ankyloblepharon OMIM:123570
Pearson Marrow-Pancreas Syndrome
Erythema, Failure to thrive, Hyperbilirubinemia, Pallor, Death in childhood, Anorexia, Steatorrhe... OMIM:557000
Bazex Syndrome
Palmoplantar keratoderma, Parakeratosis, Scaling skin, Pruritus, Hyperkeratosis, Edema ORPHA:166113
Momo Syndrome
Downslanted palpebral fissures, Cutis marmorata, Obesity, Eyelid coloboma, Epicanthus OMIM:157980
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Failure to thrive, Dehydration, Recurrent ... ORPHA:3008
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Failure to thrive, Dehydration OMIM:602722
3-Hydroxy-3-Methylglutaric Aciduria
Edema, Pallor, Hyperammonemia, Hyperuricemia, Weight loss, Anorexia, Jaundice, Dehydration ORPHA:20
Oculotrichoanal Syndrome
Cryptophthalmos, Upper eyelid coloboma, Nasolacrimal duct obstruction ORPHA:2717
Neu-Laxova Syndrome 1
Yellow subcutaneous tissue covered by thin, scaly skin, Generalized edema, Pterygium, Neonatal de... OMIM:256520
Ichthyosis, Congenital, Autosomal Recessive 6
Palmoplantar keratoderma, Orthokeratosis, Dry skin, Parakeratosis, Erythroderma, Scaling skin, Ec... OMIM:612281
Barth Syndrome
Elevated monolysocardiolipin/cardiolipin ratio, Failure to thrive OMIM:302060
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased circulating carnitine concentration, Pallor, Hyperammonemia, Hyperuricemia, Death in ch... OMIM:246450
Acrofacial Dysostosis, Cincinnati Type
Failure to thrive, Downslanted palpebral fissures, Pterygium, Lower eyelid coloboma, Thick eyebro... OMIM:616462
Acrofrontofacionasal Dysostosis
Aplasia/Hypoplasia of the eyebrow, Ptosis, Eyelid coloboma, Downslanted palpebral fissures ORPHA:1784
Acrogeria
Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Excessive wrinkled skin ORPHA:2500
Osteootohepatoenteric Syndrome
Failure to thrive, Increased serum bile acid concentration, Hypokalemia, Weight loss, Prolonged n... OMIM:619377
Momo Syndrome
Downslanted palpebral fissures, Cutis marmorata, Obesity, Large for gestational age, Eyelid colob... ORPHA:2563
Postaxial Acrofacial Dysostosis
Eyelid coloboma, Ectropion of lower eyelids, Downslanted palpebral fissures ORPHA:246
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hyperammonemia, Dehydration ORPHA:27
Microcephalic Primordial Dwarfism, Montreal Type
Dry skin, Prematurely aged appearance, Ptosis, Premature graying of hair ORPHA:2617
Lichen Planopilaris
Pterygium, Pruritus, Hyperkeratosis, Skin ulcer ORPHA:525
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Hyperglycinemia, Hyperammonemia, Dehydration, Methylmalonic acidemia OMIM:251000
Wolcott-Rallison Syndrome
Hypoalbuminemia, Ascites, Hyperbilirubinemia, Hyperammonemia, Decreased body weight, Hyponatremia... ORPHA:1667
Huntington Disease
Decreased body mass index, Abnormal circulating cholesterol concentration, Oral-pharyngeal dyspha... ORPHA:399
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Eosinophilic Gastroenteritis
Hypoalbuminemia, Atopic dermatitis, Ascites, Eosinophilia, Weight loss, Elevated circulating C-re... ORPHA:2070
Frontonasal Dysplasia 3
Upper eyelid coloboma, Absent eyebrow, Sparse eyelashes OMIM:613456
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Dehydration OMIM:300200
Arthrogryposis Multiplex Congenita 5
Premature skin wrinkling, Upslanted palpebral fissure, Death in infancy, Ptosis, Polyhydramnios OMIM:618947
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Parakeratosis, Scaling skin, Pruritus, Hyperkeratosis ORPHA:90368
Stuve-Wiedemann Syndrome 1
Short palpebral fissure, Premature skin wrinkling, Oligohydramnios, Death in infancy, Dysphagia OMIM:601559
Alternating Hemiplegia Of Childhood
Failure to thrive, Dehydration, Oral-pharyngeal dysphagia, Thin eyebrow, Pallor, Impulsivity, Agg... ORPHA:2131
Wiedemann-Rautenstrauch Syndrome
Sparse eyebrow, Failure to thrive, Downslanted palpebral fissures, Premature skin wrinkling, Prom... OMIM:264090
Congenital Tufting Enteropathy
Steatorrhea, Weight loss, Failure to thrive, Dehydration ORPHA:92050
Anophthalmia Plus Syndrome
Eyelid coloboma, Blepharophimosis ORPHA:1104
Cutis Laxa, Autosomal Dominant 3
Dermal translucency, Cutis laxa, Premature skin wrinkling OMIM:616603
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Telecanthus, Eyelid coloboma OMIM:607597
Fg Syndrome Type 1
Facial wrinkling, Downslanted palpebral fissures, Slender build, Attention deficit hyperactivity ... ORPHA:93932
Cog5-Cdg
Oligohydramnios, Premature skin wrinkling ORPHA:263487
Pemphigus Vulgaris
Acantholysis, Weight loss, Recurrent cutaneous abscess formation, Urticaria ORPHA:704
Shigellosis
Failure to thrive in infancy, Abnormal blood ion concentration, Hyponatremia, Anorexia, Conjuncti... ORPHA:810
Progeroid Syndrome, Petty Type
Failure to thrive, Thick eyebrow, Long eyelashes in irregular rows, Reduced subcutaneous adipose ... ORPHA:2963
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Elevated circulating propionylcarnitine concentration, Hyperglycinemia, Hypera... OMIM:251110
Helsmoortel-Van Der Aa Syndrome
Short palpebral fissure, Failure to thrive, Downslanted palpebral fissures, Bilateral ptosis, Bru... OMIM:615873
Werner Syndrome
Subcutaneous calcification, Skin ulcer, Premature graying of hair, Slender build, Lack of skin el... ORPHA:902
Lymphatic Malformation 12
Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Neonatal death, Death in adolescence, Polyh... OMIM:620014
Vipoma
Erythema, Increased circulating cortisol level, Subcutaneous lipoma, Ascites, Intermittent jaundi... ORPHA:97282
Lipodystrophy, Familial Partial, Type 7
Progeroid facial appearance, Failure to thrive, Facial wrinkling, Dry skin, Cutis marmorata, Decr... OMIM:606721
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Long eyelashes, Cryptophthalmos OMIM:615877
Cutis Laxa, Autosomal Recessive, Type Iib
Bruising susceptibility, Failure to thrive, Downslanted palpebral fissures, Redundant skin, Exces... OMIM:612940
Cholera
Hypocalcemia, Hypokalemia, Hyponatremia, Palmoplantar cutis laxa, Abnormal blood ion concentratio... ORPHA:173
Fraser Syndrome 2
Cryptophthalmos, Oligohydramnios OMIM:617666
Fontaine Progeroid Syndrome
Short palpebral fissure, Aplastic/hypoplastic lacrimal glands, Failure to thrive, Downslanted pal... OMIM:612289
Barber-Say Syndrome
Sparse eyebrow, Premature skin wrinkling, Dry skin, Telecanthus, Redundant skin, Sparse eyelashes... OMIM:209885
Ogden Syndrome
Palpebral thickening, Facial wrinkling, Hyperbilirubinemia, Pulmonary edema, Epicanthus, Jaundice... OMIM:300855
Acrodermatitis Enteropathica
Erythema, Skin ulcer, Failure to thrive, Generalized abnormality of skin, Abnormal eyebrow morpho... ORPHA:37
Nager Syndrome
Downslanted palpebral fissures, Lower eyelid coloboma, Ptosis, Aplasia/Hypoplasia of the eyebrow,... ORPHA:245
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Parakeratosis, Palmopl... OMIM:300918
Glucose-Galactose Malabsorption
Failure to thrive, Dehydration, Weight loss, Hypercalcemia, Hypernatremia ORPHA:35710
Intestinal Dysmotility Syndrome
Polyhydramnios, Weight loss, Failure to thrive OMIM:620045
Focal Facial Dermal Dysplasia 3, Setleis Type
Epicanthus, Distichiasis, Absent lower eyelashes, Aged leonine appearance OMIM:227260
Mandibulofacial Dysostosis With Alopecia
Lower eyelid coloboma, Sparse eyelashes OMIM:616367
Peeling Skin Syndrome 6
Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus OMIM:618084
Kid Syndrome
Sparse eyebrow, Posterior blepharitis, Folliculitis, Aplastic/hypoplastic lacrimal glands, Acne i... ORPHA:477
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Failure to thrive, Prominent veins on trunk, Downslanted palpebral fissures, Abnormal circulating... ORPHA:357074
Aids Wasting Syndrome
Cachexia, Weight loss, Anorexia ORPHA:90081
Acute Myelomonocytic Leukemia
Eosinophilia, Weight loss, Pallor ORPHA:517
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Pruritus, Weight loss, Anorexia ORPHA:86893
Oculocerebrocutaneous Syndrome
Ptosis, Eyelid coloboma ORPHA:1647
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Hyperkeratosis, Scaling skin OMIM:602723
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Dehydration,... ORPHA:90791
Treacher Collins Syndrome 3
Lower eyelid coloboma, Downslanted palpebral fissures OMIM:248390
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Dry skin, Follicular hyperkeratosis, Punctate palmoplantar hyperkeratosis, Fragile skin, Scaling ... OMIM:616295
Laron Syndrome
Prematurely aged appearance, Hypercholesterolemia, Truncal obesity ORPHA:633
Juvenile Dermatomyositis
Erythema, Skin ulcer, Dry skin, Skin rash, Elevated circulating creatine kinase concentration, Te... ORPHA:93672
Fraser Syndrome 1
Lacrimal duct aplasia, Cryptophthalmos, Absent eyelashes, Upper eyelid coloboma, Absent eyebrow, ... OMIM:219000
Keppen-Lubinsky Syndrome
Progeroid facial appearance, Failure to thrive, Premature skin wrinkling, Shallow orbits, Polyhyd... ORPHA:435628
Irida Syndrome
Decreased circulating copper concentration, Hyperkeratosis, Pallor ORPHA:209981
Oculopharyngodistal Myopathy
Impaired oropharyngeal swallow response, Weight loss, Progressive ptosis, Oral-pharyngeal dysphagia ORPHA:98897
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration, Neonatal death OMIM:602199
Cutis Laxa, Autosomal Recessive, Type Iia
Failure to thrive, Downslanted palpebral fissures, Redundant skin, Excessive wrinkled skin, Cutis... OMIM:219200
Congenital Disorder Of Glycosylation, Type Iie
Short palpebral fissure, Failure to thrive, Upslanted palpebral fissure, Excessive wrinkled skin,... OMIM:608779
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Poor wound healing, Bruising susceptibility, Downslanted palpebral fissures, Excessive wrinkled s... OMIM:225400
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Skin ulcer, Failure to thrive, Hyperaldosteronism, Upslanted palpebral f... ORPHA:534
Dermatomyositis
Erythema, Abnormal eosinophil morphology, Shawl sign, Heliotrope rash, Skin ulcer, V-sign, Dry sk... ORPHA:221
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender build, Small for gestational age, Progeroid facial appearance, Failure to thrive ORPHA:50811
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Hyperglycinemia, Hyperammonemia, Dehydration, Methylmalonic acidemia OMIM:251100
Pearson Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Corneal stromal edema, Ptosis, Hypophosphatemia, Hyper... ORPHA:699
Familial Renal Glucosuria
Dehydration ORPHA:69076
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Hyperkalemia, Hyponatremia, Failure to thrive OMIM:143860
Xfe Progeroid Syndrome
Hypoalbuminemia, Failure to thrive, Ascites, Dry skin, Death in adolescence, Cachexia, Prematurel... OMIM:610965
Leishmaniasis
Hypoalbuminemia, Skin ulcer, Pallor, Weight loss, Anorexia ORPHA:507
X-Linked Agammaglobulinemia
Skin ulcer, Failure to thrive, Skin rash, Hypocalcemia, Weight loss, Conjunctivitis, Recurrent cu... ORPHA:47
Autosomal Recessive Cutis Laxa Type 2A
Progeroid facial appearance, Excessive wrinkled skin, Downslanted palpebral fissures ORPHA:357058
Enteric Anendocrinosis
Dehydration ORPHA:83620
Holocarboxylase Synthetase Deficiency
Perioral eczema, Eczematoid dermatitis, Hyperammonemia, Keratoconjunctivitis, Weight loss, Anorexia ORPHA:79242
Dend Syndrome
Elevated hemoglobin A1c, Dehydration, Bilateral ptosis ORPHA:79134
Toxic Epidermal Necrolysis
Erythema, Polydipsia, Skin ulcer, Entropion, Weight loss, Conjunctivitis, Acantholysis, Dysphagia ORPHA:537
Undifferentiated Pleomorphic Sarcoma
Weight loss, Anorexia ORPHA:2023
Isovaleric Acidemia
Dehydration OMIM:243500
Diamond-Blackfan Anemia 11
Eyelid coloboma OMIM:614900
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Dehydration, Bilate... ORPHA:230
Mandibuloacral Dysplasia With Type A Lipodystrophy
Progeroid facial appearance, Abnormal eyebrow morphology, Hyperlipidemia, Lack of skin elasticity... ORPHA:90153
Marburg Hemorrhagic Fever
Hypoalbuminemia, Bruising susceptibility, Elevated circulating creatinine concentration, Hyperamy... ORPHA:99826
X-Linked Creatine Transporter Deficiency
Redundant skin, Self-mutilation, Cachexia, Ptosis, Hyperactivity, Abnormal circulating creatine c... ORPHA:52503
Jacobsen Syndrome
Eczematoid dermatitis, Downslanted palpebral fissures, Eyelid coloboma, Death in infancy, Epicant... ORPHA:2308
Jacobsen Syndrome
Failure to thrive, Telecanthus, Eyelid coloboma, Epicanthus, Ptosis, Nasolacrimal duct obstructio... OMIM:147791
Cockayne Syndrome
Premature skin wrinkling, Malar rash, Reduced subcutaneous adipose tissue, Hyperuricemia, Cachexi... ORPHA:191
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Dehydration, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating... ORPHA:94093
Wiedemann-Rautenstrauch Syndrome
Increased subcutaneous truncal adipose tissue, Progeroid facial appearance, Failure to thrive, Pr... ORPHA:3455
Bullous Pemphigoid
Erythema, Eczematoid dermatitis, Psoriasiform dermatitis, Weight loss, Pruritus, Urticaria ORPHA:703
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the extraocular muscles, Cachexia, Ptosis, Hyperalaninemia, Weight loss, Dysphagia ORPHA:298
Scalp-Ear-Nipple Syndrome
Dry skin, Telecanthus, Lower eyelid coloboma, Epicanthus, Blepharophimosis, Narrow palpebral fiss... OMIM:181270
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Hypernatremia, Failure to thrive, Hypertonic dehydration OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Hypernatremia, Failure to thrive, Hypertonic dehydration OMIM:304800
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration OMIM:606824
Christianson Syndrome
Inappropriate laughter, Death in early adulthood, Thick eyebrow, Cachexia, Dysphagia, Motor stere... ORPHA:85278
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Failure to thrive,... OMIM:601678
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polydipsia, Small for gestational age, Hypoma... OMIM:241200
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Failure to thrive, Hyponatremia, Decreased circul... ORPHA:168558
Sweeney-Cox Syndrome
Polyhydramnios, Upper eyelid coloboma OMIM:617746
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Eyelid coloboma, Subcutaneous lipoma OMIM:613001
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Hyperkeratosis, Scaling skin OMIM:607936
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Failure to thrive, Hyponatremia, Decreased circul... ORPHA:289548
Bartter Syndrome Type 4
Small for gestational age, Failure to thrive, Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hy... ORPHA:89938
Polyarteritis Nodosa
Erythema, Skin ulcer, Cutis marmorata, Weight loss, Elevated circulating C-reactive protein conce... ORPHA:767
Branchioskeletogenital Syndrome
Highly arched eyebrow, Periorbital wrinkles, Downslanted palpebral fissures, Telecanthus, Blephar... ORPHA:1299
Premature Aging Syndrome, Penttinen Type
Failure to thrive, Corneal stromal edema, Palmoplantar hyperkeratosis, Shallow orbits, Prominent ... OMIM:601812
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Elevated circulating palmitoleylcarnitine concentration, Failure to thrive, Hyperammonemia, Hypom... ORPHA:79282
Aicardi-Goutières Syndrome
Dry skin, Cutis marmorata, Chilblains, Eyelid coloboma, Ptosis, Prolonged neonatal jaundice, Acro... ORPHA:51
Short Syndrome
Telecanthus, Weight loss, Excessive wrinkled skin ORPHA:3163
Ataxia-Telangiectasia
Failure to thrive, Premature graying of hair, Telangiectasia of the skin, Prematurely aged appear... ORPHA:100
Oligomeganephronia
Elevated circulating creatinine concentration, Polydipsia, Small for gestational age, Dehydration ORPHA:2260
Opitz-Kaveggia Syndrome
Epicanthus, Attention deficit hyperactivity disorder, Facial wrinkling, Downslanted palpebral fis... OMIM:305450
Huntington Disease-Like 2
Weight loss ORPHA:98934
Oculoectodermal Syndrome
Lymphedema, Eyelid coloboma, Epicanthus, Hyperactivity, Limbal dermoid OMIM:600268
Stevens-Johnson Syndrome
Erythema, Entropion, Weight loss, Conjunctivitis, Acantholysis, Dysphagia ORPHA:36426
Bartter Syndrome, Type 3
Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Dehydration, Increased circulating renin level OMIM:607364
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Generalized abnormality of skin, Hypereosinophilia, Pleural effusion, Weight l... ORPHA:2902
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse eyebrow, Progeroid facial appearance, Telecanthus, Sparse eyelashes, Epicanthus, Cutis laxa ORPHA:75496
Thanatophoric Dysplasia Type 1
Polyhydramnios, Increased nuchal translucency, Redundant skin, Excessive wrinkled skin ORPHA:1860
De Barsy Syndrome
Progeroid facial appearance, Prominent veins on trunk, Downslanted palpebral fissures, Failure to... ORPHA:2962
Gorlin-Chaudhry-Moss Syndrome
Upper eyelid coloboma, Abnormal eyelid morphology ORPHA:2095
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Muscular edema, Eosinophilia, Weight loss, Acrocyanosis, Edema ORPHA:3165
Juvenile Nephropathic Cystinosis
Hypouricemia, Polydipsia, Failure to thrive, Elevated circulating creatinine concentration, Hypoc... ORPHA:411634
Autosomal Dominant Cutis Laxa
Premature skin wrinkling, Redundant skin, Redundant neck skin, Ptosis, Cutis laxa, Dermal translu... ORPHA:90348
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Pseudoxanthoma Elasticum
Bruising susceptibility, Striae distensae, Skin rash, Excessive wrinkled skin, Lack of skin elast... ORPHA:758
Galactose Epimerase Deficiency
Jaundice, Weight loss ORPHA:79238
Cutis Laxa, Autosomal Recessive, Type Iiib
Excessive wrinkled skin, Cutis laxa, Prominent superficial veins, Narrow palpebral fissure, Derma... OMIM:614438
Ehlers-Danlos Syndrome, Classic-Like, 2
Poor wound healing, Bruising susceptibility, Bilateral ptosis, Thin eyebrow, Redundant skin, Ptos... OMIM:618000
Fraser Syndrome
Cryptophthalmos, Malformed lacrimal duct, Lacrimal duct aplasia, Death in infancy ORPHA:2052
Pleural Mesothelioma
Weight loss, Pleural effusion, Dysphagia ORPHA:50251
Wilson Disease
Bruising susceptibility, Failure to thrive, Joint swelling, Increased body weight, Aggressive beh... ORPHA:905
Non-Functioning Paraganglioma
Flushing, Weight loss, Hypercalcemia, Pallor ORPHA:94080
Adult-Onset Still Disease
Erythema, Abnormal circulating lipid concentration, Increased circulating ferritin concentration,... ORPHA:829
Familial Benign Chronic Pemphigus
Erythema, Acantholysis, Hyperkeratosis, Skin vesicle ORPHA:2841
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Polydipsia, Failure to thrive, Hypomagnesemia, Fai... OMIM:219800
Infantile Nephropathic Cystinosis
Polydipsia, Failure to thrive, Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration, D... ORPHA:411629
Postaxial Acrofacial Dysostosis
Ectropion, Eyelid coloboma, Downslanted palpebral fissures OMIM:263750
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Skin rash, Palmoplantar pustulosis, Weight loss, Elevated circulating C-... ORPHA:324964
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Nocturnal lagophthalmos, Premature skin wrinkling, Cyanosis, Lac... ORPHA:740
Faundes-Banka Syndrome
Fetal ascites, Failure to thrive, Downslanted palpebral fissures, Hypoplasia of the lower eyelids... OMIM:619376
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Short palpebral fissure, Horizontal eyebrow, Sparse lateral eyebrow, Failure to thrive, Downslant... OMIM:619950
Mcdonough Syndrome
Cachexia, Short palpebral fissure, Ptosis, Synophrys ORPHA:2471
Riboflavin Transporter Deficiency
Aggressive behavior, Cachexia, Ptosis, Dysphagia ORPHA:97229
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Pallor, Bruising susceptibility, Lymphedema ORPHA:3226
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Failure to thrive OMIM:612075
Renal Hypoplasia
Polydipsia, Small for gestational age, Dehydration ORPHA:93101
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Epicanthus, Cachexia, Ptosis, Polyhydramnios OMIM:618186
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Dehydration OMIM:616271
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Failure to thrive, Ascites, Dry skin, Chilblains, Self-mutilation, Weight loss, ... OMIM:619487
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Treacher-Collins Syndrome
Blepharospasm, Failure to thrive, Downslanted palpebral fissures, Eyelid coloboma, Absent eyelashes ORPHA:861
Follicular Lymphoma
Weight loss, Pleural effusion, Lymphedema ORPHA:545
Late-Onset Isolated Acth Deficiency
Failure to thrive, Dry skin, Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, E... ORPHA:199299
Aggressive Systemic Mastocytosis
Ascites, Maculopapular exanthema, Weight loss, Anorexia, Pruritus, Flushing, Urticaria ORPHA:98850
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Ptosis, Eyelid coloboma, Downslanted palpebral fissures ORPHA:2211
Classic Hodgkin Lymphoma
Pruritus, Weight loss, Skin rash, Anorexia ORPHA:391
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Eyelid coloboma ORPHA:268249
Proboscis Lateralis
Abnormal morphology of bony orbit of skull, Nasolacrimal duct obstruction, Unilateral narrow palp... ORPHA:141099
Takayasu Arteritis
Weight loss, Skin ulcer, Anorexia ORPHA:3287
Atypical Werner Syndrome
Subcutaneous calcification, Skin ulcer, Progeroid facial appearance, Premature graying of hair, F... ORPHA:79474
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Pruritus, Weight loss, Anorexia ORPHA:65682
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Slender build, Small for gestational age, Progeroid facial appearance, Failure to thrive OMIM:608154
Acute Adrenal Insufficiency
Failure to thrive, Dry skin, Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, S... ORPHA:95409
Adrenocortical Carcinoma
Increased circulating cortisol level, Hyperaldosteronism, Striae distensae, Hypokalemia, Increase... ORPHA:1501
Frontofacionasal Dysplasia
Ankyloblepharon, Telecanthus, Absent inner eyelashes, Eyelid coloboma, Ptosis, Blepharophimosis, ... OMIM:229400
Nephrogenic Diabetes Insipidus
Polydipsia, Failure to thrive, Hypernatremic dehydration, Anorexia, Polyhydramnios, Hypernatremia ORPHA:223
Griscelli Syndrome
Abnormal circulating lipid concentration, Premature graying of hair, Ascites, Abnormal eyebrow mo... ORPHA:381
Subaortic Stenosis-Short Stature Syndrome
Epicanthus, Obesity, Acne, Abnormal circulating lipid concentration ORPHA:3191
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Ptosis, Elevated circulating creatine kinase concentration ORPHA:1933
Reactive Arthritis
Joint swelling, Pustule, Weight loss, Conjunctivitis, Hyperkeratosis ORPHA:29207
Isolated Permanent Neonatal Diabetes Mellitus
Weight loss, Failure to thrive, Dehydration, Bilateral ptosis ORPHA:99885
Thymic Carcinoma
Palpebral edema, Weight loss, Edema ORPHA:99868
Hermansky-Pudlak Syndrome
Bruising susceptibility, Long eyelashes, Weight loss, Anorexia, Hyperkeratosis ORPHA:79430
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Downslanted palpebral fissures, Failure to thrive in infancy, Epicanthus, Cachexia, Ptosis OMIM:616801
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Weight loss, Hyperkalemia,... ORPHA:90794
Focal Myositis
Weight loss, Elevated circulating creatine kinase concentration ORPHA:48918
Microvillus Inclusion Disease
Pruritus, Dehydration ORPHA:2290
Charge Syndrome
Highly arched eyebrow, Eyelid coloboma, Epicanthus, Attention deficit hyperactivity disorder, Pto... ORPHA:138
Juvenile Huntington Disease
Weight loss, Hyperactivity ORPHA:248111
Dermatosparaxis Ehlers-Danlos Syndrome
Epicanthus, Abnormality of subcutaneous fat tissue, Excessive wrinkled skin ORPHA:1901
Werner Syndrome
Subcutaneous calcification, Progeroid facial appearance, Hypertriglyceridemia, Elevated hemoglobi... OMIM:277700
Immunodeficiency 27A
Hypoalbuminemia, Weight loss, Anorexia OMIM:209950
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Jaundice, Failure... ORPHA:247598
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Excessive wrinkled skin ORPHA:137608
Cataract-Intellectual Disability-Hypogonadism Syndrome
Prematurely aged appearance ORPHA:1387
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Dry skin, Skin rash, Cachexia, Prematurely aged appearance, Cutaneous photosensitivity, Urticaria ORPHA:220295
Ménétrier Disease
Hypoalbuminemia, Peripheral edema, Weight loss, Anorexia, Hypoproteinemia ORPHA:2494
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Oligohydramnios, Dehydration, Neonatal death OMIM:263200
Bone Dysplasia, Lethal Holmgren Type
Weight loss, Failure to thrive, Redundant neck skin ORPHA:1842
Renpenning Syndrome
Thin eyebrow, Epicanthus, Cachexia, Upslanted palpebral fissure ORPHA:3242
Isaacs Syndrome
Weight loss ORPHA:84142
Severe Generalized Junctional Epidermolysis Bullosa
Edema, Failure to thrive, Pyoderma, Fragile skin, Abnormal blood ion concentration, Recurrent ski... ORPHA:79404
Hoyeraal-Hreidarsson Syndrome
Failure to thrive, Excessive wrinkled skin, Premature graying of hair ORPHA:3322
Scleromyxedema
Generalized abnormality of skin, Elevated circulating creatine kinase concentration, Aged leonine... ORPHA:167635
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Generalized edema, Hypomagnesemia, Ascites, Pleural effusion, Hypocalcemia, Weig... ORPHA:90362
Peripheral Primitive Neuroectodermal Tumor
Ascites, Elevated carcinoma antigen 125 level, Weight loss, Anorexia, Jaundice, Pruritus, Elevate... ORPHA:370348
Cronkhite-Canada Syndrome
Anorexia, Aplasia/Hypoplasia of the eyebrow, Cachexia, Lymphedema ORPHA:2930
Livedoid Vasculopathy
Poor wound healing, Skin ulcer, Abnormal circulating lipid concentration, Macular purpura, Cutis ... ORPHA:542643
Alopecia Universalis
Atopic dermatitis, Abnormal circulating lipid concentration, Psoriasiform dermatitis, Absent eyel... ORPHA:701
Microsporidiosis
Keratoconjunctivitis, Cachexia, Weight loss, Anorexia, Dehydration ORPHA:2552
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... ORPHA:3337
Drug Reaction With Eosinophilia And Systemic Symptoms
Erythema, Angioedema, Skin rash, Pustule, Eosinophilia, Weight loss, Erythroderma ORPHA:139402
Acrofacial Dysostosis 1, Nager Type
Downslanted palpebral fissures, Lower eyelid coloboma, Sparse lower eyelashes, Absent lower eyela... OMIM:154400
Caroli Disease
Conjunctival icterus, Ascites, Weight loss, Anorexia, Jaundice, Pruritus, Conjugated hyperbilirub... ORPHA:53035
Tetrasomy 12P
Sparse eyebrow, Telecanthus, Upslanted palpebral fissure, Cachexia, Ptosis ORPHA:884
Distal Renal Tubular Acidosis
Hypokalemia, Polydipsia, Failure to thrive, Dehydration ORPHA:18
Yao Syndrome
Inflammatory abnormality of the skin, Xerostomia, Skin rash, Keratoconjunctivitis sicca, Weight loss OMIM:617321
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Death in infancy ORPHA:157973
Cryptogenic Organizing Pneumonia
Elevated circulating C-reactive protein concentration, Weight loss, Cyanosis, Anorexia ORPHA:1302
Fabry Disease
Abnormal circulating lipid concentration, Lymphedema, Hyperlipidemia, Angiokeratoma, Conjunctival... ORPHA:324
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Weight loss, Abnormal eyelid morphology ORPHA:2221
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating deoxyuridine concentration, Slender build, Death in early adulthood, Cachexi... OMIM:603041
Alexander Disease Type I
Cachexia, Dysphagia, Failure to thrive ORPHA:363717
Primary Myelofibrosis
Pallor, Petechiae, Ecchymosis, Cachexia, Anorexia, Purpura ORPHA:824
Acquired Partial Lipodystrophy
Progeroid facial appearance ORPHA:79087
Recon Progeroid Syndrome
Progeroid facial appearance, Dry skin, Keratoconjunctivitis sicca, Livedo reticularis, Scaling sk... OMIM:620370
Eosinophilic Granulomatosis With Polyangiitis
Cutis marmorata, Skin rash, Purpura, Eosinophilia, Weight loss, Dysphagia, Acrocyanosis, Urticaria ORPHA:183
Hereditary Central Diabetes Insipidus
Weight loss, Polydipsia ORPHA:30925
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Majeed Syndrome
Inflammatory abnormality of the skin, Failure to thrive, Pustule, Cachexia, Weight loss, Acne, Edema ORPHA:77297
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Xerostomia, Sparse lateral eyebrow, Periorbital wrinkles, Dry skin, Sparse eyelashes, Absent eyel... OMIM:614941
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Telecanthus, Eyelid coloboma ORPHA:140952
Huntington Disease-Like 2
Weight loss OMIM:606438
Wolman Disease
Ascites, Cachexia, Steatorrhea ORPHA:75233
Ring Chromosome 10 Syndrome
Cachexia, Hypocalcemia, Downslanted palpebral fissures ORPHA:1438
Kaposi Sarcoma
Weight loss, Skin rash, Lymphedema ORPHA:33276
Wrinkly Skin Syndrome
Progeroid facial appearance, Failure to thrive, Downslanted palpebral fissures, Redundant skin, N... OMIM:278250
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of eyelid, Azotemia, Abdominal obesity OMIM:619321
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Cachexia, Hyperammonemia, Elevated circulating creatine kinase ... ORPHA:42
Hyperoxaluria, Primary, Type I
Cutis marmorata, Hyperoxaluria, Acrocyanosis, Dehydration OMIM:259900
Glucagonoma
Increased circulating cortisol level, Subcutaneous lipoma, Ascites, Necrolytic migratory erythema... ORPHA:97280
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglycerid... ORPHA:567548
Mandibuloacral Dysplasia With Type B Lipodystrophy
Progeroid facial appearance, Death in early adulthood, Decreased adipose tissue around neck, Hype... OMIM:608612
Scalp-Ear-Nipple Syndrome
Palpebral edema, Telecanthus, Eyelid coloboma ORPHA:2036
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Polyhydramnios, Telecanthus, Cachexia ORPHA:2774
Bronchial Neuroendocrine Tumor
Increased circulating cortisol level, Facial telangiectasia, Dermatological manifestations of sys... ORPHA:97287
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Pseudomyxoma Peritonei
Ascites, Weight loss ORPHA:26790
Multiple Endocrine Neoplasia Type 1
Increased circulating cortisol level, Primary hypercortisolism, Weight loss, Anorexia, Hypercalce... ORPHA:652
Acute Promyelocytic Leukemia
Bruising susceptibility, Petechiae, Ecchymosis, Addictive alcohol use, Weight loss, Anorexia, Pur... ORPHA:520
Mandibuloacral Dysplasia With Type B Lipodystrophy
Prematurely aged appearance, Hyperlipidemia, Progeroid facial appearance, Calcinosis ORPHA:90154
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Trichothiodystrophy
Eczematoid dermatitis, Dry skin, Congenital exfoliative erythroderma, Epicanthus, Keratoconjuncti... ORPHA:33364
Addison Disease
Failure to thrive, Dry skin, Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, S... ORPHA:85138
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Failure to thrive, Dry skin, Sparse or absent eyelashes, Cachexia ORPHA:217346
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Sparse eyebrow, Eyelid coloboma, Sparse eyelashes, Epicanthus, Ptosis ORPHA:306542
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Treacher Collins Syndrome 1
Downslanted palpebral fissures, Lower eyelid coloboma, Upper eyelid coloboma, Ptosis, Lacrimal du... OMIM:154500
Mulibrey Nanism
Cachexia ORPHA:2576
Refractory Celiac Disease
Hypoalbuminemia, Inflammatory abnormality of the skin, Hypomagnesemia, Hypocalcemia, Hypophosphat... ORPHA:398063
Erdheim-Chester Disease
Polydipsia, Xanthelasma, Pleural effusion, Skin rash, Joint swelling, Ptosis, Weight loss ORPHA:35687
Campomelia, Cumming Type
Lymphedema, Prematurely aged appearance, Oligohydramnios, Death in infancy, Hydrops fetalis ORPHA:1318
Graves Disease
Polyphagia, Weight loss, Hyperactivity OMIM:275000
Thymic Neuroendocrine Tumor
Weight loss, Hypercalcemia, Increased circulating cortisol level, Prominent veins on trunk ORPHA:97289
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Steatorrhea, Cachexia, Ptosis, Cutaneous photosensitivity ORPHA:3217
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Short palpebral fissure, Upslanted palpebral fissure, Progeroid facial appearance OMIM:617763
Rhabdoid Tumor
Weight loss, Hypercalcemia ORPHA:69077
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Kikuchi-Fujimoto Disease
Erythema, Anorexia, Malar rash, Pleural effusion, Skin rash, Pustule, Weight loss, Vasculitis in ... ORPHA:50918
Flynn-Aird Syndrome
Cachexia, Skin ulcer ORPHA:2047
Huntington Disease-Like 1
Restlessness, Weight loss ORPHA:157941
Neuroblastoma
Anemic pallor, Weight loss, Horner syndrome, Increased circulating ferritin concentration ORPHA:635
Nodular Non-Suppurative Panniculitis
Erythema, Weight loss, Edema ORPHA:33577
Primary Hepatic Neuroendocrine Carcinoma
Ascites, Facial telangiectasia, Intermittent jaundice, Ptosis, Weight loss, Anorexia ORPHA:100085
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse eyebrow, Progeroid facial appearance, Death in childhood, Palmoplantar hyperkeratosis, Sha... OMIM:619127
Short Tarsus With Absence Of Lower Eyelashes
Hypoplasia of the lower eyelids, Absent lower eyelashes OMIM:600269
Cystic Fibrosis
Steatorrhea, Failure to thrive, Dehydration OMIM:219700
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyebrow, Periorbital wrinkles, Hypohidrotic ectodermal dysplasia, Sparse eyelashes OMIM:224900
Gapo Syndrome
Palpebral edema, Sparse eyebrow, Prematurely aged appearance, Sparse eyelashes ORPHA:2067
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Self-injurious behavior, Severe failure to thrive, Cachexia, Downslanted palpebral fissures ORPHA:371364
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Proximal Renal Tubular Acidosis
Polydipsia, Failure to thrive, Hypokalemia, Dehydration, Bicarbonaturia ORPHA:47159
Poems Syndrome
Abnormality of skin physiology, Ascites, Pleural effusion, Plethora, Weight loss, Pericardial eff... ORPHA:2905
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Cutaneous photosensitivity, Progeroid facial appearance, Cutis marmorata OMIM:300953
Al Amyloidosis
Hypoalbuminemia, Xerostomia, Bruising susceptibility, Peripheral edema, Increased circulating NT-... ORPHA:85443
Hereditary Amyloidosis With Primary Renal Involvement
Elevated circulating creatinine concentration, Petechiae, Weight loss, Decreased circulating apol... ORPHA:85450
Giant Cell Arteritis
Ptosis, Weight loss, Skin ulcer, Anorexia ORPHA:397
Wrinkly Skin Syndrome
Failure to thrive, Prominent veins on trunk, Downslanted palpebral fissures, Excessive wrinkled s... ORPHA:2834
Cushing Syndrome Due To Ectopic Acth Secretion
Poor wound healing, Increased circulating cortisol level, Increased body weight, Weight loss, Ano... ORPHA:99889
Familial Glucocorticoid Deficiency
Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Weight loss, Anorexia, Hyp... ORPHA:361
Noonan Syndrome With Multiple Lentigines
Ptosis, Excessive wrinkled skin ORPHA:500
Oromandibular Dystonia
Blepharospasm, Bruxism, Weight loss, Dysphagia ORPHA:93958
Sporadic Pheochromocytoma/Secreting Paraganglioma
Flushing, Weight loss, Hypercalcemia, Pallor ORPHA:276621
Treacher Collins Syndrome 2
Lower eyelid coloboma, Downslanted palpebral fissures OMIM:613717
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss ORPHA:1164
Celiac Disease, Susceptibility To, 1
Eczematoid dermatitis, Failure to thrive, Hypocalcemia, Weight loss, Steatorrhea OMIM:212750
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Weight loss, Pallor, Increased erythrocyte protoporphyrin concentration OMIM:301310
Malignant Peritoneal Mesothelioma
Ascites, Weight loss, Pedal edema ORPHA:168811
Rheumatoid Arthritis
Elevated circulating C-reactive protein concentration, Weight loss, Joint swelling OMIM:180300
Polymyositis
Anorexia, Weight loss, Elevated circulating creatine kinase concentration ORPHA:732
8P23.1 Microdeletion Syndrome
Downslanted palpebral fissures, Obesity, Upslanted palpebral fissure, Epicanthus, Attention defic... ORPHA:251071
Gm1 Gangliosidosis
Failure to thrive, Oral aversion, Weight loss, Hydrops fetalis, Dysphagia ORPHA:354
Hereditary Pheochromocytoma-Paraganglioma
Retinal capillary hemangioma, Pallor, Weight loss, Hypercalcemia, Flushing ORPHA:29072
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor, Eosinophilia, Weight loss, Pruritus, Flushing, Urticaria ORPHA:98849
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
X-Linked Intellectual Disability, Cabezas Type
Downslanted palpebral fissures, Obesity, Epicanthus, Aggressive behavior, Cachexia, Hyperactivity... ORPHA:85293
Paternal Uniparental Disomy Of Chromosome 6
Oligohydramnios, Shallow orbits, Dehydration ORPHA:96191
Progeria-Short Stature-Pigmented Nevi Syndrome
Prematurely aged appearance, Lack of facial subcutaneous fat, Progeroid facial appearance, Small ... ORPHA:2959
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Xerostomia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia, Anorexia OMIM:175500
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Weight loss, Pleural effusion ORPHA:411703
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Progeroid facial appearance, Premature graying of hair, Reduced subcutaneous adipose tissue, Hype... ORPHA:280365
Constricting Bands, Congenital
Eyelid coloboma OMIM:217100
Isolated Arrhinia
Eyelid coloboma ORPHA:1134
Marfanoid-Progeroid-Lipodystrophy Syndrome
Bruising susceptibility, Progeroid facial appearance, Downslanted palpebral fissures, Oligohydram... OMIM:616914
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Psoriasiform dermatitis, Weight loss, Elevated cir... ORPHA:49041
Osteosarcoma
Weight loss, Joint swelling ORPHA:668
Arterial Tortuosity Syndrome
Short palpebral fissure, Bruising susceptibility, Progeroid facial appearance, Downslanted palpeb... OMIM:208050
Primary Biliary Cholangitis
Hypoalbuminemia, Dermatographic urticaria, Abnormal circulating lipid concentration, Ascites, Xan... ORPHA:186
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Joint swelling, Weight loss, Abnormality of iron ho... ORPHA:465508
Classic Pantothenate Kinase-Associated Neurodegeneration
Attention deficit hyperactivity disorder, Weight loss, Dysphagia ORPHA:216866
Desmoplastic Small Round Cell Tumor
Ascites, Cachexia, Weight loss ORPHA:83469
Proteasome-Associated Autoinflammatory Syndrome 1
Erythema, Progeroid facial appearance, Failure to thrive, Premature graying of hair, Hypertriglyc... OMIM:256040
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Abnormality of bo... ORPHA:2298
Wild Type Attr Amyloidosis
Pulmonary edema, Weight loss, Pleural effusion, Pedal edema ORPHA:330001
Arterial Tortuosity Syndrome
Short palpebral fissure, Redundant skin, Telangiectasia of the skin, Blepharophimosis, Prematurel... ORPHA:3342
Ppoma
Increased circulating cortisol level, Subcutaneous lipoma, Ascites, Intermittent jaundice, Weight... ORPHA:97278
Cockayne Syndrome Type 1
Failure to thrive, Progeroid facial appearance, Increased blood urea nitrogen, Conjunctivitis, Cu... ORPHA:90321
Acquired Generalized Lipodystrophy
Progeroid facial appearance, Abnormal circulating lipid concentration, Hypertriglyceridemia ORPHA:79086
Riddle Syndrome
Erythema, Conjunctival telangiectasia, Telangiectasia, Weight loss, Scaling skin, Elevated circul... ORPHA:420741
Igg4-Related Aortitis
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Weight loss ORPHA:449400
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Cystic Echinococcosis
Hyperbilirubinemia, Eosinophilia, Weight loss, Jaundice, Urticaria ORPHA:400
Somatostatinoma
Increased circulating cortisol level, Subcutaneous lipoma, Ascites, Intermittent jaundice, Weight... ORPHA:97283
Cockayne Syndrome B
Progeroid facial appearance, Failure to thrive, Dry skin, Reduced subcutaneous adipose tissue, De... OMIM:133540
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Weight loss ORPHA:90060
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hypomagnesemia, Fai... ORPHA:37042
Aredyld Syndrome
Cachexia, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow ORPHA:1133
Nestor-Guillermo Progeria Syndrome
Sparse eyebrow, Progeroid facial appearance, Failure to thrive, Dry skin, Sparse eyelashes, Promi... OMIM:614008
Pfapa Syndrome
Weight loss ORPHA:42642
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Dysphagia, Progeroid facial appearance ORPHA:412057
Postinfectious Vasculitis
Palpable purpura, Inflammatory abnormality of the skin, Elevated haptoglobin level, Anorexia, Cut... ORPHA:48435
Acute Monoblastic/Monocytic Leukemia
Periorbital edema, Weight loss, Anorexia ORPHA:514
Seckel Syndrome
Cachexia, Prematurely aged appearance, Downslanted palpebral fissures ORPHA:808
Mast Cell Sarcoma
Weight loss ORPHA:66661
Q Fever
Pleural effusion, Weight loss, Anorexia, Pericardial effusion, Maculopapular exanthema, Purpura ORPHA:781
Geroderma Osteodysplastica
Prematurely aged appearance, Redundant skin ORPHA:2078
Whipple Disease
Polydipsia, Hyponatremia, Cachexia, Anorexia, Pedal edema ORPHA:3452
Systemic Capillary Leak Syndrome
Pulmonary edema, Weight loss, Pleural effusion, Pedal edema ORPHA:188
Lymphoid Interstitial Pneumonia
Eczematoid dermatitis, Failure to thrive, Skin rash, Keratoconjunctivitis sicca, Weight loss ORPHA:79128
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ptosis, Dysphagia, Mildly elevated creatine kinase, Weight loss OMIM:607459
Apolipoprotein A-I Deficiency
Xanthelasma, Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration ORPHA:425
Rat-Bite Fever
Morbilliform rash, Skin rash, Pustule, Weight loss, Erythema nodosum, Scaling skin, Maculopapular... ORPHA:31205
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Skin ulcer ORPHA:86884
Schwartz-Jampel Syndrome
Blepharospasm, Abnormal eyebrow morphology, Long eyelashes in irregular rows, Death in infancy, E... ORPHA:800
Roberts-Sc Phocomelia Syndrome
Downslanted palpebral fissures, Eyelid coloboma, Shallow orbits, Stillbirth, Polyhydramnios OMIM:268300
Down Syndrome
Obesity, Upslanted palpebral fissure, Epicanthus, Prematurely aged appearance, Blepharitis ORPHA:870
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Sparse eyebrow, Eczematoid dermatitis, Periorbital wrinkles, Dry skin, Sparse eyelashes, Absent e... OMIM:305100
Anaplastic Thyroid Carcinoma
Weight loss, Dysphagia ORPHA:142
Oculopharyngodistal Myopathy 1
Bilateral ptosis, Elevated circulating creatine kinase concentration, Ptosis, Weight loss, Dysphagia OMIM:164310
Pancreatic Triacylglycerol Lipase Deficiency
Steatorrhea, Keratoconjunctivitis sicca, Weight loss, Edema ORPHA:309031
Malignant Atrophic Papulosis
Telangiectasia of the skin, Ptosis, Pleural effusion, Weight loss ORPHA:679
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Increased circulating ferritin concentration, Oligohydramnios, Skin rash, Chil... OMIM:615846
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Grfoma
Increased circulating cortisol level, Subcutaneous lipoma, Ascites, Intermittent jaundice, Weight... ORPHA:97261
Perry Syndrome
Weight loss ORPHA:178509
Perry Syndrome
Weight loss, Inappropriate behavior, Disinhibition OMIM:168605
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Weight loss OMIM:613239
Cockayne Syndrome Type 2