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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
Hyperkeratosis, Seborrheic dermatitis 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
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... ORPHA:498359
Lamellar Ichthyosis
Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Erythroderma, Dry skin, Aplasia/H... ORPHA:313
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Weight loss, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Cutaneous photos... ORPHA:312
Ulerythema Ophryogenesis
Miscarriage, Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, C... ORPHA:3406
Combined Oxidative Phosphorylation Deficiency 36
Upslanted palpebral fissure, Hyperalaninemia, Premature skin wrinkling, Failure to thrive OMIM:617950
Harlequin Ichthyosis
Dehydration, Hyperkeratosis, Self-injurious behavior, Erythroderma, Ectropion ORPHA:457
Transaldolase Deficiency
Edema, Hydrops fetalis, Telangiectasia, Abnormal circulating glutamine concentration, Increased s... ORPHA:101028
Chronic Hiccup
Abnormal eating behavior, Dehydration, Weight loss ORPHA:396
Elastoderma
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa ORPHA:228240
Erythrokeratodermia Variabilis
Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Weight loss, Hyperkeratosis, Cutaneous p... ORPHA:317
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Familial Cold Urticaria
Pruritus, Erythema, Dehydration, Urticaria, Conjunctivitis, Polydipsia ORPHA:47045
Barber-Say Syndrome
Ablepharon, Telecanthus, Redundant skin, Sparse or absent eyelashes, Failure to thrive, Aplasia/H... ORPHA:1231
Reticular Dysgenesis
Skin rash, Skin ulcer, Weight loss, Dehydration, Failure to thrive ORPHA:33355
Alg8-Cdg
Hyponatremia, Failure to thrive, Abnormality of subcutaneous fat tissue, Small for gestational ag... ORPHA:79325
Classic Mycosis Fungoides
Skin rash, Eczema, Edema, Abnormal eyelid morphology, Pruritus, Erythema, Skin ulcer, Hyperkerato... ORPHA:2584
Central Diabetes Insipidus
Hyponatremia, Anorexia, Dehydration, Weight loss, Polydipsia, Failure to thrive ORPHA:178029
Microphthalmia, Syndromic 8
Blepharophimosis, Premature skin wrinkling, Short palpebral fissure OMIM:601349
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Dehydration, Decreased circulating carnitine co... ORPHA:79159
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Pustule, Dehydration, Long eyelashes, Failure to thrive OMIM:616069
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Dysphagia, Dehydration, Ptosis OMIM:618958
Cog7-Cdg
Small for gestational age, Elevated circulating creatine kinase concentration, Jaundice, Excessiv... ORPHA:79333
Dermatoleukodystrophy
Premature skin wrinkling, Progeroid facial appearance OMIM:221790
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Hyperkalemia, Dehydration, Increased ci... OMIM:610600
Bartsocas-Papas Syndrome 1
Absent eyebrow, Ablepharon, Cicatricial lagophthalmos, Absent eyelashes, Lower eyelid coloboma, A... OMIM:263650
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Ascites, Palmoplantar keratoderma, Dysphagia, Weight loss ORPHA:2198
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dry skin ORPHA:454
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Failure to thrive, Methylmalonic acidemia, Dehydration ORPHA:289504
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism... ORPHA:171876
Netherton Syndrome
Hypernatremic dehydration, Parakeratosis, Recurrent skin infections, Eczema, Sparse eyebrow, Angi... OMIM:256500
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin OMIM:617571
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly OMIM:165600
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Cachexia, Lack of skin elasticity, Weight loss, Premature gr... ORPHA:1979
Acrofacial Dysostosis, Cincinnati Type
Ablepharon, Lower eyelid coloboma, Upper eyelid coloboma, Decreased body weight, Downslanted palp... OMIM:616462
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Cutis laxa OMIM:614434
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Dehydration OMIM:601410
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Hyperammonemia, Dehydration ORPHA:28
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration OMIM:614265
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Dehydration, Elevated seru... ORPHA:556030
Nicolaides-Baraitser Syndrome
Eczema, Curly eyelashes, Highly arched eyebrow, Excessive wrinkled skin, Long eyelashes, Blepharo... ORPHA:3051
Craniofaciofrontodigital Syndrome
Epicanthus, Prominent superficial veins, Edema, Polyhydramnios, Pericardial effusion, Large for g... ORPHA:363705
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... OMIM:167730
Neu-Laxova Syndrome 2
Ablepharon, Polyhydramnios, Edema OMIM:616038
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... ORPHA:103910
Ablepharon Macrostomia Syndrome
Absent eyebrow, Ablepharon, Redundant skin, Absent eyelashes, Excessive wrinkled skin, Dry skin, ... ORPHA:920
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Dehydration, Death in childhood, Blepharophimosis, Failure to thrive OMIM:214150
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Failure to thrive, Inflammatory abnormality of the skin, Sparse eyelashes, Incr... OMIM:610768
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Failure to thrive, Hyperammonemia, Dehydration ORPHA:79312
Netherton Syndrome
Sparse eyelashes, Eczema, Skin rash, Sparse eyebrow, Dehydration, Urticaria, Erythroderma, Dry skin ORPHA:634
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery... ORPHA:64745
Idiopathic Achalasia
Decreased prealbumin level, Dysphagia, Weight loss ORPHA:930
Treacher Collins Syndrome 4
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:618939
Richieri-Costa/Guion-Almeida Syndrome
Palmoplantar cutis laxa, Eyelid coloboma, Downslanted palpebral fissures, Ptosis OMIM:268850
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level, F... OMIM:177735
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Weight loss, Steatorrhea, F... ORPHA:95427
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Failure to thrive OMIM:264350
Moynahan Syndrome
Hyperkeratosis, Cachexia ORPHA:2574
Beta-Ketothiolase Deficiency
Edema, Anorexia, Dehydration, Hyperammonemia, Weight loss, Agitation, Hyperuricemia, Pallor, Oral... ORPHA:134
Transient Neonatal Diabetes Mellitus
Failure to thrive, Small for gestational age, Dehydration ORPHA:99886
Fraser Syndrome 3
Nonimmune hydrops fetalis, Stillbirth, Ascites, Cryptophthalmos, Oligohydramnios OMIM:617667
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Ablepharon, Hypoplasia of eyelid, Redundant skin, Absent eyelashes, Premature ski... OMIM:200110
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Death in infancy, Dehydration OMIM:251850
Teebi Hypertelorism Syndrome 2
Attention deficit hyperactivity disorder, Upper eyelid coloboma, Thick eyebrow, Ptosis OMIM:619736
Autosomal Agammaglobulinemia
Epicanthus, Skin rash, Recurrent skin infections, Dehydration, Conjunctivitis, Failure to thrive ORPHA:33110
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Dehydration, Weight loss OMIM:143880
Myoclonic-Astatic Epilepsy
Hyperactivity, Premature skin wrinkling, Attention deficit hyperactivity disorder ORPHA:1942
Cardiofaciocutaneous Syndrome
Epicanthus, Failure to thrive in infancy, Redundant skin, Lymphedema, Abnormal eyelash morphology... ORPHA:1340
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Carnitine Deficiency, Systemic Primary
Failure to thrive, Elevated circulating creatine kinase concentration, Hyperammonemia, Dehydration OMIM:212140
Rhizomelic Chondrodysplasia Punctata, Type 2
Decreased circulating plasmalogen concentration, Failure to thrive OMIM:222765
Pemphigus Vulgaris
Urticaria, Recurrent cutaneous abscess formation, Weight loss, Acantholysis ORPHA:704
Oculocerebrocutaneous Syndrome
Eyelid coloboma, Orbital cyst OMIM:164180
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis ORPHA:254478
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration, Death in adolescence, Death in childhood, Failure to thrive, Ptosis OMIM:560000
Short Syndrome
Premature skin wrinkling, Small for gestational age, Prominent superficial veins, Telecanthus OMIM:269880
Methylmalonyl-Coa Epimerase Deficiency
Failure to thrive, Elevated circulating palmitoleylcarnitine concentration, Dehydration, Hyperhom... OMIM:251120
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Failure to thrive OMIM:203400
Congenital Short Bowel Syndrome
Failure to thrive, Dehydration, Steatorrhea OMIM:615237
Propionic Acidemia
Eczema, Hyperammonemia, Dehydration, Hyperglycinemia, Failure to thrive OMIM:606054
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Polyhydramnios, Dehydration, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increa... OMIM:214700
Geroderma Osteodysplasticum
Progeroid facial appearance, Neonatal wrinkled skin of hands and feet, Cutis laxa, Premature skin... OMIM:231070
Frontofacionasal Dysplasia
Telecanthus, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Absent inner eyelashes, Apl... ORPHA:1791
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Sparse eyebrow, Facial erythema, Folliculitis, Palmoplantar keratoderma, Conjun... OMIM:308800
Pulmonary Blastoma
Weight loss ORPHA:64741
Oculoauriculofrontonasal Syndrome
Limbal dermoid, Upper eyelid coloboma ORPHA:398156
Mantle Cell Lymphoma
Anorexia, Weight loss ORPHA:52416
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Premature graying of hair, Hypercholester... ORPHA:363618
Nicolaides-Baraitser Syndrome
Absent eyebrow, Failure to thrive, Eczema, Aggressive behavior, Unilateral narrow palpebral fissu... OMIM:601358
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Oral-pharyngeal dysphagia, Anorexia, Weight loss ORPHA:100083
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Small for gestational age, Conjugated hyperbilirubinemia, Jaundice, Dehydration... OMIM:208085
Burn-Mckeown Syndrome
Blepharophimosis, Lower eyelid coloboma, Short palpebral fissure OMIM:608572
Cystinosis
Dehydration, Hypokalemia, Hypophosphatemia, Polydipsia, Failure to thrive, Abnormal repetitive ma... ORPHA:213
Toriello-Lacassie-Droste Syndrome
Epicanthus, Telecanthus, Polyhydramnios, Blepharophimosis, Eyelid coloboma, Abnormal conjunctiva ... ORPHA:3339
Focal Facial Dermal Dysplasia Type Iii
Epicanthus, Sparse lower eyelashes, Redundant skin, Highly arched eyebrow, Prematurely aged appea... ORPHA:1807
Lysosomal Acid Lipase Deficiency
Hyponatremia, Failure to thrive, Hypertriglyceridemia, Cachexia, Pruritus, Jaundice, Hyperkalemia... ORPHA:275761
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Cryptophthalmos, Ankyloblepharon OMIM:123570
Bartsocas-Papas Syndrome
Ankyloblepharon, Popliteal pterygium, Sparse or absent eyelashes, Eyelid coloboma, Aplasia/Hypopl... ORPHA:1234
Momo Syndrome
Epicanthus, Cutis marmorata, Obesity, Eyelid coloboma, Downslanted palpebral fissures OMIM:157980
Bazex Syndrome
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin ORPHA:166113
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Failure to thrive, Dehydration OMIM:602722
Neu-Laxova Syndrome 1
Ablepharon, Polyhydramnios, Absent eyelashes, Yellow subcutaneous tissue covered by thin, scaly s... OMIM:256520
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Anorexia, Erythema, Hydrops fetalis, Dehydration, Death in childhood, ... OMIM:557000
Oculotrichoanal Syndrome
Cryptophthalmos, Upper eyelid coloboma, Nasolacrimal duct obstruction ORPHA:2717
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Erythroderma, Orthokeratos... OMIM:612281
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Dehydration, Failure to thrive, Hyperammonemia, Ptosis OMIM:615453
Acrogeria
Telangiectasia of the skin, Excessive wrinkled skin, Prematurely aged appearance, Skin ulcer ORPHA:2500
Momo Syndrome
Epicanthus, Cutis marmorata, Large for gestational age, Obesity, Eyelid coloboma, Downslanted pal... ORPHA:2563
Postaxial Acrofacial Dysostosis
Eyelid coloboma, Ectropion of lower eyelids, Downslanted palpebral fissures ORPHA:246
Manitoba Oculotrichoanal Syndrome
Eyelid coloboma, Nasolacrimal duct obstruction, Cryptophthalmos OMIM:248450
Acrofrontofacionasal Dysostosis
Eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis ORPHA:1784
3-Hydroxy-3-Methylglutaric Aciduria
Edema, Anorexia, Jaundice, Dehydration, Hyperammonemia, Weight loss, Hyperuricemia, Pallor ORPHA:20
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Dry skin, Prematurely aged appearance, Ptosis ORPHA:2617
Lichen Planopilaris
Pruritus, Hyperkeratosis, Pterygium, Skin ulcer ORPHA:525
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Dehydration OMIM:300200
Eosinophilic Gastroenteritis
Eosinophilia, Edema, Elevated circulating C-reactive protein concentration, Atopic dermatitis, Dy... ORPHA:2070
Arthrogryposis Multiplex Congenita 5
Death in infancy, Polyhydramnios, Upslanted palpebral fissure, Premature skin wrinkling, Ptosis OMIM:618947
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Absent eyebrow, Prominent scalp veins, Entropion, Sparse eye... OMIM:264090
Frontonasal Dysplasia 3
Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma OMIM:613456
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Abnormal circulating cholesterol con... ORPHA:399
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hyperammonemia, Dehydration, Hyperglycinemia, Failure to thrive OMIM:251000
Stuve-Wiedemann Syndrome 1
Death in infancy, Dysphagia, Premature skin wrinkling, Short palpebral fissure, Oligohydramnios OMIM:601559
Congenital Tufting Enteropathy
Weight loss, Failure to thrive, Dehydration, Steatorrhea ORPHA:92050
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Anorexia, Recur... ORPHA:3008
Osteootohepatoenteric Syndrome
Pruritus, Dehydration, Weight loss, Hypokalemia, Increased serum bile acid concentration, Prolong... OMIM:619377
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivity, Dehydration, Pallor, Thin ... ORPHA:2131
Wolcott-Rallison Syndrome
Hyponatremia, Jaundice, Hyperammonemia, Dehydration, Hypoalbuminemia, Hyperbilirubinemia, Decreas... ORPHA:1667
Anophthalmia Plus Syndrome
Blepharophimosis, Eyelid coloboma ORPHA:1104
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Eyelid coloboma, Telecanthus OMIM:607597
Fg Syndrome Type 1
Facial wrinkling, Downslanted palpebral fissures, Attention deficit hyperactivity disorder, Compu... ORPHA:93932
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hyperammonemia, Dehydration ORPHA:27
Cutis Laxa, Autosomal Dominant 3
Premature skin wrinkling, Cutis laxa, Dermal translucency OMIM:616603
Cog5-Cdg
Premature skin wrinkling, Oligohydramnios ORPHA:263487
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Epicanthus, Prematurely aged appearance, Redundant skin, Cut... ORPHA:2963
Shigellosis
Hyponatremia, Failure to thrive in infancy, Anorexia, Abnormal blood ion concentration, Dehydrati... ORPHA:810
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper... OMIM:620014
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Long eyelashes, Cryptophthalmos OMIM:615877
Werner Syndrome
Prematurely aged appearance, Telangiectasia of the skin, Miscarriage, Lack of skin elasticity, Sk... ORPHA:902
Cholera
Hyponatremia, Miscarriage, Abnormal blood ion concentration, Dehydration, Hypokalemia, Hypocalcem... ORPHA:173
Helsmoortel-Van Der Aa Syndrome
Epicanthus, Hyperactivity, Bilateral ptosis, Abnormal repetitive mannerisms, Ectropion of lower e... OMIM:615873
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Failure to thrive, Hypertriglyceridemia, Decreased adipose t... OMIM:606721
Barber-Say Syndrome
Telecanthus, Ectropion, Sparse eyelashes, Redundant skin, Sparse eyebrow, Epiblepharon, Premature... OMIM:209885
Fraser Syndrome 2
Cryptophthalmos, Oligohydramnios OMIM:617666
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Failure to thrive, Redundant skin, Lack of skin elasticity, Excessiv... OMIM:612940
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Death in infancy, Prominent superficial veins, Prematurely a... OMIM:612289
Vipoma
Hypercalcemia, Anorexia, Erythema, Dehydration, Intermittent jaundice, Weight loss, Hypokalemia, ... ORPHA:97282
Glucose-Galactose Malabsorption
Hypercalcemia, Dehydration, Weight loss, Hypernatremia, Failure to thrive ORPHA:35710
Tuberculosis
Weight loss ORPHA:3389
Ogden Syndrome
Redundant neck skin, Redundant skin, Abnormal eyelid morphology, Lymphedema, Abnormal repetitive ... OMIM:300855
Nager Syndrome
Sparse lower eyelashes, Lower eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia... ORPHA:245
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Failure to thrive, Anorexia, Abnormal eyelid morphology, Pustule, Er... ORPHA:37
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Posterior blepharitis, Palmoplantar hyperkeratosis, Hype... OMIM:300918
Intestinal Dysmotility Syndrome
Failure to thrive, Polyhydramnios, Weight loss OMIM:620045
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Focal Facial Dermal Dysplasia 3, Setleis Type
Epicanthus, Distichiasis, Aged leonine appearance, Absent lower eyelashes OMIM:227260
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Acute Myelomonocytic Leukemia
Eosinophilia, Pallor, Weight loss ORPHA:517
Mandibulofacial Dysostosis With Alopecia
Sparse eyelashes, Lower eyelid coloboma OMIM:616367
Oculocerebrocutaneous Syndrome
Eyelid coloboma, Ptosis ORPHA:1647
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Dehydration, Increased circulat... ORPHA:90791
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Pruritus, Anorexia, Weight loss ORPHA:86893
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin OMIM:602723
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Redundant neck skin, Redundant skin, Abnormal subcutaneous fat tissue distribution, Prominent vei... ORPHA:357074
Laron Syndrome
Hypercholesterolemia, Prematurely aged appearance, Truncal obesity ORPHA:633
Juvenile Dermatomyositis
Calcinosis, Palpebral edema, Elevated circulating creatine kinase concentration, Elevated circula... ORPHA:93672
Treacher Collins Syndrome 3
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:248390
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin, Folli... OMIM:616295
Irida Syndrome
Hyperkeratosis, Decreased circulating copper concentration, Pallor ORPHA:209981
Fraser Syndrome 1
Absent eyebrow, Absent eyelashes, Upper eyelid coloboma, Lacrimal duct aplasia, Malformed lacrima... OMIM:219000
Keppen-Lubinsky Syndrome
Progeroid facial appearance, Polyhydramnios, Shallow orbits, Premature skin wrinkling, Failure to... ORPHA:435628
Hyperchlorhidrosis, Isolated
Hyponatremia, Hypernatremic dehydration, Failure to thrive, Hyperkalemia OMIM:143860
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Epicanthus, Poor wound healing, Excessive wrinkled skin, Follicular hyperkeratosis, Palmoplantar ... OMIM:225400
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Oculopharyngodistal Myopathy
Impaired oropharyngeal swallow response, Weight loss, Oral-pharyngeal dysphagia, Progressive ptosis ORPHA:98897
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Elevated circulating creatine kinase concentration, Jaundice, Upslanted palpebr... OMIM:608779
Cutis Laxa, Autosomal Recessive, Type Iia
Redundant skin, Cutis laxa, Excessive wrinkled skin, Failure to thrive, Downslanted palpebral fis... OMIM:219200
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Death in infancy, Hypoammonemia, Skin ulcer, Dehydration, Upslanted palpebral fissu... ORPHA:534
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender build, Failure to thrive, Small for gestational age, Progeroid facial appearance ORPHA:50811
Pearson Syndrome
Small for gestational age, Hydrops fetalis, Steatorrhea, Hypophosphatemia, Dehydration, Corneal s... ORPHA:699
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hyperammonemia, Dehydration, Hyperglycinemia, Failure to thrive OMIM:251110
Leishmaniasis
Anorexia, Skin ulcer, Weight loss, Hypoalbuminemia, Pallor ORPHA:507
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Prematurely aged appearance, Progeroid facial appearance, Absent eye... ORPHA:90153
Xfe Progeroid Syndrome
Failure to thrive, Prematurely aged appearance, Cachexia, Dry skin, Death in adolescence, Cutaneo... OMIM:610965
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Skin rash, Skin ulcer, Weight loss, Conjunctivitis, Hypoca... ORPHA:47
Undifferentiated Pleomorphic Sarcoma
Anorexia, Weight loss ORPHA:2023
Diamond-Blackfan Anemia 11
Eyelid coloboma OMIM:614900
Isovaleric Acidemia
Dehydration OMIM:243500
Autosomal Recessive Cutis Laxa Type 2A
Excessive wrinkled skin, Downslanted palpebral fissures, Progeroid facial appearance ORPHA:357058
Dend Syndrome
Bilateral ptosis, Elevated hemoglobin A1c, Dehydration ORPHA:79134
Enteric Anendocrinosis
Dehydration ORPHA:83620
Jacobsen Syndrome
Death in infancy, Epicanthus, Ectropion, Eczema, Eyelid coloboma, Attention deficit hyperactivity... ORPHA:2308
Jacobsen Syndrome
Epicanthus, Telecanthus, Abnormal eyelash morphology, Nasolacrimal duct obstruction, Eyelid colob... OMIM:147791
Toxic Epidermal Necrolysis
Entropion, Acantholysis, Erythema, Skin ulcer, Weight loss, Conjunctivitis, Dysphagia, Polydipsia ORPHA:537
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyhydramnios, Small for gest... OMIM:601678
Holocarboxylase Synthetase Deficiency
Eczema, Anorexia, Hyperammonemia, Weight loss, Keratoconjunctivitis, Perioral eczema ORPHA:79242
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Polyhydramnios, De... OMIM:241200
Marburg Hemorrhagic Fever
Maculopapular exanthema, Elevated circulating creatine kinase concentration, Hyperamylasemia, Ski... ORPHA:99826
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hyperammonemia, Dehydration, Hyperglycinemia, Failure to thrive OMIM:251100
Christianson Syndrome
Death in early adulthood, Cachexia, Inappropriate laughter, Dysphagia, Abnormal repetitive manner... ORPHA:85278
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Hypernatremia, Polydipsia, Hypertonic dehydration OMIM:125800
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Prominent scalp veins, Entropion, Hypertriglyceridemia, Recu... ORPHA:3455
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Dehydration, Abnormal circulati... ORPHA:168558
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Hypernatremia, Polydipsia, Hypertonic dehydration OMIM:304800
Polyarteritis Nodosa
Cutis marmorata, Elevated circulating C-reactive protein concentration, Erythema, Skin ulcer, Wei... ORPHA:767
Dopamine Beta-Hydroxylase Deficiency
Bilateral ptosis, Elevated circulating creatinine concentration, Dehydration, Increased blood ure... ORPHA:230
Scalp-Ear-Nipple Syndrome
Epicanthus, Telecanthus, Palpebral edema, Lower eyelid coloboma, Narrow palpebral fissure, Cutane... OMIM:181270
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Dehydration, Abnormal circulati... ORPHA:289548
Bartter Syndrome Type 4
Hyponatremia, Small for gestational age, Polyhydramnios, Dehydration, Hypochloremia, Hypokalemia,... ORPHA:89938
Peeling Skin Syndrome 4
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin OMIM:607936
Sweeney-Cox Syndrome
Upper eyelid coloboma, Polyhydramnios OMIM:617746
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration OMIM:606824
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Dehydration, Dysp... ORPHA:94093
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Cachexia, Malar rash, Keratoconjunctivitis sicca, Hyperurice... ORPHA:191
Branchioskeletogenital Syndrome
Telecanthus, Highly arched eyebrow, Synophrys, Blepharochalasis, Eyelid coloboma, Periorbital wri... ORPHA:1299
X-Linked Creatine Transporter Deficiency
Hyperactivity, Redundant skin, Cachexia, Abnormal circulating creatine concentration, Self-mutila... ORPHA:52503
Aicardi-Goutières Syndrome
Cutis marmorata, Chilblains, Dry skin, Eyelid coloboma, Prolonged neonatal jaundice, Acrocyanosis... ORPHA:51
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Eyelid coloboma, Subcutaneous lipoma OMIM:613001
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss, Abnormality of the extraocular muscles, Dysphagia, Hyperalaninemia, Ptosis ORPHA:298
Ataxia-Telangiectasia
Telangiectasia of the skin, Prematurely aged appearance, Premature graying of hair, Failure to th... ORPHA:100
Short Syndrome
Excessive wrinkled skin, Telecanthus, Weight loss ORPHA:3163
Bartter Syndrome, Type 3
Hyperchloriduria, Dehydration, Hypokalemia, Hyperaldosteronism, Increased circulating renin level OMIM:607364
Premature Aging Syndrome, Penttinen Type
Prominent superficial veins, Prematurely aged appearance, Palmoplantar hyperkeratosis, Corneal st... OMIM:601812
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Jaundice, Hydrops fetalis, Hyperammonemia, Elevated ci... ORPHA:79282
Opitz-Kaveggia Syndrome
Epicanthus, Downslanted palpebral fissures, Facial wrinkling, Attention deficit hyperactivity dis... OMIM:305450
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... OMIM:615980
Huntington Disease-Like 2
Weight loss ORPHA:98934
Oculoectodermal Syndrome
Epicanthus, Hyperactivity, Lymphedema, Eyelid coloboma, Limbal dermoid OMIM:600268
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Erythema, Weight loss, Urticaria ORPHA:703
Thanatophoric Dysplasia Type 1
Excessive wrinkled skin, Increased nuchal translucency, Redundant skin, Polyhydramnios ORPHA:1860
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Epicanthus, Telecanthus, Sparse eyelashes, Progeroid facial appearance, Sparse eyebrow, Cutis laxa ORPHA:75496
Fraser Syndrome
Lacrimal duct aplasia, Malformed lacrimal duct, Cryptophthalmos, Death in infancy ORPHA:2052
Oligomeganephronia
Small for gestational age, Polydipsia, Elevated circulating creatinine concentration, Dehydration ORPHA:2260
Stevens-Johnson Syndrome
Entropion, Acantholysis, Erythema, Weight loss, Conjunctivitis, Dysphagia ORPHA:36426
Gorlin-Chaudhry-Moss Syndrome
Upper eyelid coloboma, Abnormal eyelid morphology ORPHA:2095
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Atopic dermatitis, Weig... ORPHA:2902
Autosomal Dominant Cutis Laxa
Ptosis, Redundant neck skin, Prematurely aged appearance, Redundant skin, Cutis laxa, Premature s... ORPHA:90348
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia, Edema, Weight loss, Muscular edema, Acrocyanosis ORPHA:3165
Galactose Epimerase Deficiency
Jaundice, Weight loss ORPHA:79238
De Barsy Syndrome
Epicanthus, Progeroid facial appearance, Prominent veins on trunk, Cutis laxa, Excessive wrinkled... ORPHA:2962
Cutis Laxa, Autosomal Recessive, Type Iiib
Prominent superficial veins, Cutis laxa, Excessive wrinkled skin, Narrow palpebral fissure, Derma... OMIM:614438
Pseudoxanthoma Elasticum
Telangiectasia of the skin, Acne, Skin rash, Pruritus, Lack of skin elasticity, Excessive wrinkle... ORPHA:758
Wilson Disease
Failure to thrive, Aggressive behavior, Pruritus, Hypersexuality, Jaundice, Increased body weight... ORPHA:905
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Dehydration, Hypokalemia, Hypophosphatemia, Polydipsia, Failure... ORPHA:411629
Pleural Mesothelioma
Pleural effusion, Dysphagia, Weight loss ORPHA:50251
Non-Functioning Paraganglioma
Hypercalcemia, Weight loss, Pallor, Flushing ORPHA:94080
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Skin rash, Elevated circulating C-reactive protein concentration, ... ORPHA:324964
Ehlers-Danlos Syndrome, Classic-Like, 2
Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Bil... OMIM:618000
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Dehydration, Hypokalem... ORPHA:411634
Postaxial Acrofacial Dysostosis
Eyelid coloboma, Downslanted palpebral fissures, Ectropion OMIM:263750
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Nocturnal lagophthalmos, Loss of e... ORPHA:740
Faundes-Banka Syndrome
Epicanthus, Fetal ascites, Hypoplasia of the lower eyelids, Dysphagia, Long palpebral fissure, Fa... OMIM:619376
Mcdonough Syndrome
Cachexia, Synophrys, Short palpebral fissure, Ptosis ORPHA:2471
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Thick eyebrow, Epicanthus, Prematurely aged appearance, Impu... OMIM:619950
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Dehydration, Hypophosphatemia, Hypokalemia, Hypoc... ORPHA:31824
Riboflavin Transporter Deficiency
Aggressive behavior, Dysphagia, Cachexia, Ptosis ORPHA:97229
Aicardi-Goutieres Syndrome 9
Failure to thrive, Chilblains, Edema, Pericardial effusion, Dry skin, Weight loss, Hypoalbuminemi... OMIM:619487
Renal Hypoplasia
Polydipsia, Small for gestational age, Dehydration ORPHA:93101
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Bruising susceptibility, Pallor, Lymphedema ORPHA:3226
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Neuropathy, Congenital Hypomyelinating, 3
Epicanthus, Cachexia, Polyhydramnios, Neonatal death, Ptosis OMIM:618186
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Dehydration OMIM:616271
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Cystinosis, Nephropathic
Hyponatremia, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Reduced blood urea nitroge... OMIM:219800
Treacher-Collins Syndrome
Absent eyelashes, Blepharospasm, Eyelid coloboma, Failure to thrive, Downslanted palpebral fissures ORPHA:861
Follicular Lymphoma
Pleural effusion, Weight loss, Lymphedema ORPHA:545
Atypical Werner Syndrome
Prominent superficial veins, Hypertriglyceridemia, Prematurely aged appearance, Telangiectasia of... ORPHA:79474
Subaortic Stenosis-Short Stature Syndrome
Epicanthus, Abnormal circulating lipid concentration, Acne, Obesity ORPHA:3191
Griscelli Syndrome
Abnormal eyebrow morphology, Abnormal eyelash morphology, Jaundice, Pedal edema, Premature grayin... ORPHA:381
Takayasu Arteritis
Anorexia, Skin ulcer, Weight loss ORPHA:3287
Mycophenolate Mofetil Embryopathy
Eyelid coloboma, Hydrops fetalis ORPHA:268249
Proboscis Lateralis
Abnormal eyebrow morphology, Epicanthus, Abnormal nasolacrimal system morphology, Abnormal locati... ORPHA:141099
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased body weight... ORPHA:1501
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Eyelid coloboma, Downslanted palpebral fissures, Ptosis ORPHA:2211
Late-Onset Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Hypercalcemia, Eosinophili... ORPHA:199299
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Failure to thrive, Small for gestational age, Progeroid facial appearance OMIM:608154
Familial Renal Glucosuria
Elevated hemoglobin A1c, Dehydration ORPHA:69076
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Polyhydramnios, Anorexia, Hypernatremia, Polydipsia, Failure to thrive ORPHA:223
Aggressive Systemic Mastocytosis
Maculopapular exanthema, Anorexia, Pruritus, Weight loss, Urticaria, Ascites, Flushing ORPHA:98850
Benign Recurrent Intrahepatic Cholestasis
Pruritus, Jaundice, Anorexia, Weight loss ORPHA:65682
Classic Hodgkin Lymphoma
Pruritus, Skin rash, Anorexia, Weight loss ORPHA:391
Frontofacionasal Dysplasia
Telecanthus, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Blepharophimosis, Abs... OMIM:229400
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Elevated circulating creatine kinase concentration, Cachexia, Ptosis ORPHA:1933
Reactive Arthritis
Pustule, Weight loss, Hyperkeratosis, Joint swelling, Conjunctivitis ORPHA:29207
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Salt craving, Hypercalcemi... ORPHA:95409
Thymic Carcinoma
Palpebral edema, Edema, Weight loss ORPHA:99868
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Epicanthus, Failure to thrive in infancy, Cachexia, Downslanted palpebral fissures, Ptosis OMIM:616801
Werner Syndrome
Hypertriglyceridemia, Prematurely aged appearance, Elevated hemoglobin A1c, Progeroid facial appe... OMIM:277700
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Decreased circulating cortisol level, Miscarriage, Acne, Hyperkalemia, Dehydration,... ORPHA:90794
Primary Hepatic Neuroendocrine Carcinoma
Elevated circulating alpha-fetoprotein concentration, Anorexia, Intermittent jaundice, Elevated c... ORPHA:100085
Familial Cervical Artery Dissection
Abnormal circulating lipid concentration, Striae distensae ORPHA:36382
Microvillus Inclusion Disease
Pruritus, Dehydration ORPHA:2290
Peripheral Primitive Neuroectodermal Tumor
Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concentration, Anore... ORPHA:370348
Focal Myositis
Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
Juvenile Huntington Disease
Hyperactivity, Weight loss ORPHA:248111
Hermansky-Pudlak Syndrome
Anorexia, Weight loss, Hyperkeratosis, Long eyelashes, Bruising susceptibility ORPHA:79430
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Excessive wrinkled skin ORPHA:137608
Isolated Permanent Neonatal Diabetes Mellitus
Bilateral ptosis, Failure to thrive, Dehydration, Weight loss ORPHA:99885
Dermatosparaxis Ehlers-Danlos Syndrome
Excessive wrinkled skin, Epicanthus, Abnormality of subcutaneous fat tissue ORPHA:1901
Immunodeficiency 27A
Hypoalbuminemia, Anorexia, Weight loss OMIM:209950
Ménétrier Disease
Anorexia, Weight loss, Peripheral edema, Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Cataract-Intellectual Disability-Hypogonadism Syndrome
Prematurely aged appearance ORPHA:1387
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Prematurely aged appearance, Skin rash, Cachexia, Dry skin, Urticaria, Cutaneous photosensitivity ORPHA:220295
Adult-Onset Still Disease
Skin rash, Elevated circulating C-reactive protein concentration, Pruritus, Erythema, Joint swell... ORPHA:829
Charge Syndrome
Epicanthus, Polyhydramnios, Highly arched eyebrow, Eyelid coloboma, Attention deficit hyperactivi... ORPHA:138
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Redundant neck skin, Weight loss ORPHA:1842
Cronkhite-Canada Syndrome
Anorexia, Cachexia, Aplasia/Hypoplasia of the eyebrow, Lymphedema ORPHA:2930
Livedoid Vasculopathy
Superficial dermal perivascular inflammatory infiltrate, Cutis marmorata, Telangiectasia of the s... ORPHA:542643
Yao Syndrome
Inflammatory abnormality of the skin, Skin rash, Xerostomia, Weight loss, Keratoconjunctivitis sicca OMIM:617321
Renpenning Syndrome
Upslanted palpebral fissure, Cachexia, Epicanthus, Thin eyebrow ORPHA:3242
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Excessive wrinkled skin, Failure to thrive ORPHA:3322
Fabry Disease
Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Anorexia, Lymphedema, Hyp... ORPHA:324
Isaacs Syndrome
Weight loss ORPHA:84142
Microsporidiosis
Anorexia, Cachexia, Dehydration, Weight loss, Keratoconjunctivitis ORPHA:2552
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Pleural ... ORPHA:90362
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Edema, Abnormal blood ion concentration, Dehydration, Pyoderma, Failur... ORPHA:79404
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Dehydration, Hypophosphatemia, Weight loss, Hypokalemia, Decreased ... ORPHA:3337
Scleromyxedema
Aged leonine appearance, Elevated circulating creatine kinase concentration, Pruritus, Dysphagia,... ORPHA:167635
Distal Renal Tubular Acidosis
Hypokalemia, Failure to thrive, Polydipsia, Dehydration ORPHA:18
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Dehydration, Oligohydramnios OMIM:263200
Acrofacial Dysostosis 1, Nager Type
Sparse lower eyelashes, Lower eyelid coloboma, Absent lower eyelashes, Urticaria, Downslanted pal... OMIM:154400
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Edema, Periorbital edema, Hypoalbuminemia, Hypercholesterolemia, Abnormal c... ORPHA:567548
Tetrasomy 12P
Telecanthus, Cachexia, Sparse eyebrow, Upslanted palpebral fissure, Ptosis ORPHA:884
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Pustule, Angioedema, Erythema, Weight loss, Erythroderma ORPHA:139402
Congenital Muscular Dystrophy Due To Lmna Mutation
Death in infancy, Cachexia ORPHA:157973
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Weight loss, Abnormal eyelid morphology ORPHA:2221
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Prematurely aged appearance, Progeroid facial appearance ORPHA:90154
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Acrocyanosis, Cutis marmorata, Dehydration OMIM:259900
Cryptogenic Organizing Pneumonia
Anorexia, Cyanosis, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:1302
Wolman Disease
Ascites, Cachexia, Steatorrhea ORPHA:75233
Recon Progeroid Syndrome
Progeroid facial appearance, Livedo reticularis, Absent lower eyelashes, Keratoconjunctivitis sic... OMIM:620370
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Prog... OMIM:608612
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse eyelashes, Absent eyelashes, Xerostomia, Ectodermal dysplasia, Periorbital... OMIM:614941
Caroli Disease
Anorexia, Conjugated hyperbilirubinemia, Conjunctival icterus, Jaundice, Pruritus, Weight loss, A... ORPHA:53035
Alexander Disease Type I
Failure to thrive, Cachexia, Dysphagia ORPHA:363717
Ring Chromosome 10 Syndrome
Downslanted palpebral fissures, Hypocalcemia, Cachexia ORPHA:1438
Glucagonoma
Skin rash, Hypercalcemia, Anorexia, Necrolytic migratory erythema, Pruritus, Intermittent jaundic... ORPHA:97280
Acquired Partial Lipodystrophy
Progeroid facial appearance ORPHA:79087
Huntington Disease-Like 2
Weight loss OMIM:606438
Wrinkly Skin Syndrome
Epicanthus, Redundant skin, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet... OMIM:278250
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
Eosinophilic Granulomatosis With Polyangiitis
Cutis marmorata, Eosinophilia, Skin rash, Weight loss, Urticaria, Dysphagia, Acrocyanosis, Purpura ORPHA:183
Kaposi Sarcoma
Weight loss, Skin rash, Lymphedema ORPHA:33276
Majeed Syndrome
Inflammatory abnormality of the skin, Acne, Cachexia, Edema, Pustule, Weight loss, Failure to thrive ORPHA:77297
Dermatomyositis
Abnormal eosinophil morphology, Telangiectasia of the skin, Edema, Abnormal eyelid morphology, Pe... ORPHA:221
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Eyelid coloboma, Telecanthus ORPHA:140952
Scalp-Ear-Nipple Syndrome
Eyelid coloboma, Palpebral edema, Telecanthus ORPHA:2036
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Telecanthus, Polyhydramnios ORPHA:2774
Primary Myelofibrosis
Cachexia, Anorexia, Pallor, Ecchymosis, Petechiae, Purpura ORPHA:824
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Decreased plasma total carnitine, Elevated circulating creatine kinase concentration, H... ORPHA:42
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Dehydration, Hypokalemia, Unconjugat... ORPHA:90038
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Anorexia, Dehydration, Weight loss, Increased circulating cortisol level, Primary ... ORPHA:652
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Acute Promyelocytic Leukemia
Anorexia, Weight loss, Addictive alcohol use, Ecchymosis, Bruising susceptibility, Petechiae, Pur... ORPHA:520
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
19Q13.11 Microdeletion Syndrome
Cachexia, Dry skin, Sparse or absent eyelashes, Failure to thrive, Sparse lateral eyebrow ORPHA:217346
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Trichothiodystrophy
Congenital exfoliative erythroderma, Epicanthus, Prematurely aged appearance, Eczema, Keratoconju... ORPHA:33364
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Abdominal obesity, Hypoplasia of eyelid OMIM:619321
Pseudomyxoma Peritonei
Ascites, Weight loss ORPHA:26790
Graves Disease, Susceptibility To, 1
Hyperactivity, Polyphagia, Weight loss OMIM:275000
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Epicanthus, Sparse eyelashes, Sparse eyebrow, Eyelid coloboma, Ptosis ORPHA:306542
Bronchial Neuroendocrine Tumor
Anorexia, Weight loss, Increased circulating cortisol level, Facial telangiectasia, Dermatologica... ORPHA:97287
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Death in early adulthood, Elevated circulating deoxyuridine concentration, Cachexia, Weight loss,... OMIM:603041
Refractory Celiac Disease
Inflammatory abnormality of the skin, Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia,... ORPHA:398063
Addison Disease
Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Salt craving, Hypercalcemi... ORPHA:85138
Treacher Collins Syndrome 1
Sparse lower eyelashes, Lacrimal duct stenosis, Lower eyelid coloboma, Upper eyelid coloboma, Dow... OMIM:154500
Mulibrey Nanism
Cachexia ORPHA:2576
Kikuchi-Fujimoto Disease
Palpebral edema, Skin rash, Elevated circulating C-reactive protein concentration, Anorexia, Prur... ORPHA:50918
Rhabdoid Tumor
Hypercalcemia, Weight loss ORPHA:69077
Flynn-Aird Syndrome
Cachexia, Skin ulcer ORPHA:2047
Stiff Skin Syndrome
Abnormal circulating lipid concentration, Lack of skin elasticity ORPHA:2833
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Progeroid facial appearance, Sparse eyebrow, Palmo... OMIM:619127
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia, Cutaneous photosensitivity, Steatorrhea, Ptosis ORPHA:3217
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Campomelia, Cumming Type
Death in infancy, Prematurely aged appearance, Lymphedema, Hydrops fetalis, Oligohydramnios ORPHA:1318
Huntington Disease-Like 1
Restlessness, Weight loss ORPHA:157941
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Upslanted palpebral fissure, Progeroid facial appearance, Short palpebral fissure OMIM:617763
Erdheim-Chester Disease
Polydipsia, Skin rash, Weight loss, Xanthelasma, Joint swelling, Pleural effusion, Ptosis ORPHA:35687
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Hypercalcemia, Prominent veins on trunk, Weight loss ORPHA:97289
Short Tarsus With Absence Of Lower Eyelashes
Absent lower eyelashes, Hypoplasia of the lower eyelids OMIM:600269
Nodular Non-Suppurative Panniculitis
Erythema, Edema, Weight loss ORPHA:33577
Down Syndrome
Upslanted palpebral fissure, Epicanthus, Prematurely aged appearance, Obesity ORPHA:870
Cystic Fibrosis
Failure to thrive, Dehydration, Steatorrhea OMIM:219700
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyebrow, Hypohidrotic ectodermal dysplasia, Sparse eyelashes, Periorbital wrinkles OMIM:224900
Gapo Syndrome
Sparse eyebrow, Prematurely aged appearance, Sparse eyelashes, Palpebral edema ORPHA:2067
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Self-injurious behavior, Downslanted palpebral fissures, Cachexia ORPHA:371364
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Proximal Renal Tubular Acidosis
Bicarbonaturia, Dehydration, Hypokalemia, Polydipsia, Failure to thrive ORPHA:47159
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Cutaneous photosensitivity, Cutis marmorata, Progeroid facial appearance OMIM:300953
Celiac Disease, Susceptibility To, 1
Eczema, Weight loss, Hypocalcemia, Steatorrhea, Failure to thrive OMIM:212750
Giant Cell Arteritis
Anorexia, Weight loss, Skin ulcer, Ptosis ORPHA:397
Al Amyloidosis
Increased circulating NT-proBNP concentration, Xerostomia, Weight loss, Peripheral edema, Hypoalb... ORPHA:85443
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Weight loss, Pallor, Flushing ORPHA:276621
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss ORPHA:1164
Oromandibular Dystonia
Blepharospasm, Bruxism, Dysphagia, Weight loss ORPHA:93958
Cushing Syndrome Due To Ectopic Acth Secretion
Plethora, Anorexia, Increased body weight, Pedal edema, Recurrent cutaneous fungal infections, Ec... ORPHA:99889
Treacher Collins Syndrome 2
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:613717
Rheumatoid Arthritis
Joint swelling, Elevated circulating C-reactive protein concentration, Weight loss OMIM:180300
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Noonan Syndrome With Multiple Lentigines
Excessive wrinkled skin, Ptosis ORPHA:500
Wrinkly Skin Syndrome
Epicanthus, Excessive skin wrinkling on dorsum of hands and fingers, Prominent veins on trunk, Cu... ORPHA:2834
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Anorexia, Hyperkalemia, Weight loss, Failure ... ORPHA:361
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Malignant Peritoneal Mesothelioma
Ascites, Pedal edema, Weight loss ORPHA:168811
Gm1 Gangliosidosis
Hydrops fetalis, Weight loss, Dysphagia, Oral aversion, Failure to thrive ORPHA:354
8P23.1 Microdeletion Syndrome
Epicanthus, Obesity, Weight loss, Upslanted palpebral fissure, Attention deficit hyperactivity di... ORPHA:251071
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Pruritus, Weight loss, Urticaria, Pallor, Flushing ORPHA:98849
Polymyositis
Elevated circulating creatine kinase concentration, Anorexia, Weight loss ORPHA:732
X-Linked Intellectual Disability, Cabezas Type
Epicanthus, Hyperactivity, Cachexia, Aggressive behavior, Synophrys, Obesity, Blepharophimosis, D... ORPHA:85293
Poems Syndrome
Edema, Pericardial effusion, Abnormality of skin physiology, Weight loss, Ascites, Pleural effusi... ORPHA:2905
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Weight loss, Pallor, Retinal capillary hemangioma, Flushing ORPHA:29072
Progeria-Short Stature-Pigmented Nevi Syndrome
Small for gestational age, Prematurely aged appearance, Lack of facial subcutaneous fat, Progeroi... ORPHA:2959
Paternal Uniparental Disomy Of Chromosome 6
Oligohydramnios, Dehydration, Shallow orbits ORPHA:96191
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia, Xerostomia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Decreased HDL cholesterol concentration, Hypertriglyceridemi... ORPHA:280365
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion, Weight loss ORPHA:411703
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Keratoconjunctivitis sicca, Bru... OMIM:616914
Constricting Bands, Congenital
Eyelid coloboma OMIM:217100
Isolated Arrhinia
Eyelid coloboma ORPHA:1134
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Weight loss, Joint... ORPHA:465508
Wild Type Attr Amyloidosis
Pleural effusion, Weight loss, Pedal edema, Pulmonary edema ORPHA:330001
Osteosarcoma
Joint swelling, Weight loss ORPHA:668
Arterial Tortuosity Syndrome
Short palpebral fissure, Progeroid facial appearance, Cutis laxa, Blepharophimosis, Bruising susc... OMIM:208050
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... OMIM:256040
Classic Pantothenate Kinase-Associated Neurodegeneration
Attention deficit hyperactivity disorder, Dysphagia, Weight loss ORPHA:216866
Ppoma
Hypercalcemia, Anorexia, Intermittent jaundice, Weight loss, Increased circulating cortisol level... ORPHA:97278
Insulin-Resistance Syndrome Type B
Skin rash, Abnormality of body weight, Abnormal circulating fatty-acid concentration, Increased b... ORPHA:2298
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Failure to thrive in infancy, Ecze... ORPHA:37042
Igg4-Related Aortitis
Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:449400
Desmoplastic Small Round Cell Tumor
Ascites, Cachexia, Weight loss ORPHA:83469
Somatostatinoma
Hypercalcemia, Anorexia, Intermittent jaundice, Weight loss, Increased circulating cortisol level... ORPHA:97283
Riddle Syndrome
Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Erythema, Tela... ORPHA:420741
Igg4-Related Retroperitoneal Fibrosis
Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, Elevated circulating C... ORPHA:49041
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Progeroid facial appearance, Hypertriglyceridemia ORPHA:79086
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Prematurely aged appearance, Redundant skin, Blepharophimosis, Short ... ORPHA:3342
Postinfectious Vasculitis
Abnormal circulating protein concentration, Inflammatory abnormality of the skin, Palpable purpur... ORPHA:48435
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Progeroid facial appearance, Dysphagia ORPHA:412057
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Aredyld Syndrome
Upslanted palpebral fissure, Cachexia, Aplasia/Hypoplasia of the eyebrow ORPHA:1133
Pfapa Syndrome
Weight loss ORPHA:42642
Seckel Syndrome
Cachexia, Downslanted palpebral fissures, Prematurely aged appearance ORPHA:808
Mast Cell Sarcoma
Weight loss ORPHA:66661
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Failure to thrive, Prematurely aged appearance, Small for ge... OMIM:133540
Acute Monoblastic/Monocytic Leukemia
Periorbital edema, Anorexia, Weight loss ORPHA:514
Apolipoprotein A-I Deficiency
Xanthelasma, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration ORPHA:425
Whipple Disease
Hyponatremia, Cachexia, Anorexia, Pedal edema, Polydipsia ORPHA:3452
Geroderma Osteodysplastica
Prematurely aged appearance, Redundant skin ORPHA:2078
Cockayne Syndrome Type 1
Progeroid facial appearance, Cutaneous photosensitivity, Conjunctivitis, Increased blood urea nit... ORPHA:90321
Q Fever
Maculopapular exanthema, Anorexia, Pericardial effusion, Weight loss, Pleural effusion, Purpura ORPHA:781
Lymphoid Interstitial Pneumonia
Skin rash, Eczema, Weight loss, Keratoconjunctivitis sicca, Failure to thrive ORPHA:79128
Systemic Capillary Leak Syndrome
Pleural effusion, Weight loss, Pedal edema, Pulmonary edema ORPHA:188
Cystic Echinococcosis
Eosinophilia, Jaundice, Weight loss, Urticaria, Hyperbilirubinemia ORPHA:400
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss, Mildly elevated creatine kinase, Dysphagia, Ptosis OMIM:607459
Malignant Atrophic Papulosis
Pleural effusion, Weight loss, Telangiectasia of the skin, Ptosis ORPHA:679
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Weight loss, Edema, Steatorrhea ORPHA:309031
Schwartz-Jampel Syndrome
Abnormal eyebrow morphology, Decreased body weight, Death in infancy, Elevated circulating creati... ORPHA:800
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Failure to thrive, Sparse eyelashes, Progeroid facial appearance, Sp... OMIM:614008
Roberts-Sc Phocomelia Syndrome
Polyhydramnios, Eyelid coloboma, Stillbirth, Shallow orbits, Downslanted palpebral fissures OMIM:268300
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Sparse eyelashes, Eczema, Absent eyelashes, Sparse eyebrow, Hypohidrotic ectoderm... OMIM:305100
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Weight loss ORPHA:86884
Kennedy Disease
Abnormal circulating lipid concentration ORPHA:481
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Rat-Bite Fever
Maculopapular exanthema, Skin rash, Erythema nodosum, Pustule, Weight loss, Scaling skin, Morbill... ORPHA:31205
Grfoma
Hypercalcemia, Anorexia, Intermittent jaundice, Weight loss, Increased circulating cortisol level... ORPHA:97261
Anaplastic Thyroid Carcinoma
Dysphagia, Weight loss ORPHA:142
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Weight loss ORPHA:90060
Oculopharyngodistal Myopathy 1
Elevated circulating creatine kinase concentration, Bilateral ptosis, Weight loss, Dysphagia, Ptosis OMIM:164310
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Weight loss OMIM:613239
Perry Syndrome
Inappropriate behavior, Disinhibition, Weight loss OMIM:168605
Perry Syndrome
Weight loss ORPHA:178509
Ataxia-Telangiectasia-Like Disorder 2
Conjunctival telangiectasia, Progeroid facial appearance, Cutaneous telangiectasia, Dysphagia, Cu... OMIM:615919
Aicardi-Goutieres Syndrome 7
Skin rash, Chilblains, Edema, Pericardial effusion, Increased circulating ferritin concentration,... OMIM:615846
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Cockayne Syndrome Type 2
Conjunctivitis, Progeroid facial appearance ORPHA:90322
Pneumocystosis
Chronic oral candidiasis, Pleural effusion, Weight loss ORPHA:723
Imerslund-Gräsbeck Syndrome
Failure to thrive, Pallor, Weight loss ORPHA:35858
Tbck-Related Intellectual Disability Syndrome
Epicanthus, Eczema, Synophrys, Upslanted palpebral fissure, Abnormal circulating lipid concentrat... ORPHA:488632
Amoebiasis Due To Entamoeba Histolytica
Pleural effusion, Weight loss, Hypoalbuminemia, Pleural empyema ORPHA:67
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Spider hemangioma, Pruritus, Jaundice, Dilated superficial abdomi... ORPHA:171
Inflammatory Pseudotumor Of The Liver
Elevated circulating alpha-fetoprotein concentration, Weight loss ORPHA:90003
Classical Ehlers-Danlos Syndrome
Epicanthus, Prematurely aged appearance, Poor wound healing, Dermatochalasis, Bruising susceptibi... ORPHA:287
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Redundant skin, Progeroid facial appearance, Periorbital edema, Cutis laxa, Dea... OMIM:613177
Simple Cryoglobulinemia
Weight loss, Cold urticaria, Acral ulceration, Vascular skin abnormality, Purpura ORPHA:91139
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Horner syndrome, Weight loss OMIM:256700
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis, Weight loss, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptog... OMIM:613673
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut... OMIM:123700
Solitary Fibrous Tumor
Hypophosphatemic rickets, Reduced C-peptide level, Weight loss ORPHA:2126
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Pruritus, Jaundice, Derm... ORPHA:186
Granulomatosis With Polyangiitis
Conjunctivitis, Skin ulcer, Weight loss OMIM:608710
Granulomatosis With Polyangiitis
Skin rash, Elevated circulating C-reactive protein concentration, Periorbital edema, Skin ulcer, ... ORPHA:900
Chronic Beryllium Disease
Weight loss ORPHA:133
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Failure to thrive, Prematurely aged appearance, Progeroid fa... OMIM:216400
Budd-Chiari Syndrome
Jaundice, Ascites, Weight loss ORPHA:131
Chronic Graft Versus Host Disease
Poor wound healing, Anorexia, Erythema, Xerostomia, Skin ulcer, Weight loss, Keratoconjunctivitis... ORPHA:99921
Brucellosis
Small for gestational age, Miscarriage, Elevated circulating C-reactive protein concentration, An... ORPHA:1304
Castleman Disease
Jaundice, Anasarca, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:160
Loeffler Endocarditis
Eosinophilia, Weight loss ORPHA:75566
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Weight loss, Hypokalemia, Pallor, Ptosis ORPHA:91347
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Fatal Familial Insomnia
Dysphagia, Weight loss OMIM:600072
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Cyanosis, Weight loss ORPHA:747
Williams Syndrome
Death in early adulthood, Epicanthus, Prematurely aged appearance, Hypercalcemia, Redundant skin,... ORPHA:904
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Neuroendocrine Tumor Of The Colon
Anorexia, Facial telangiectasia, Weight loss ORPHA:100080
Zollinger-Ellison Syndrome
Hypercalcemia, Jaundice, Erythema, Weight loss, Increased circulating cortisol level ORPHA:913
Familial Colorectal Cancer Type X
Abnormal circulating creatine concentration, Attention deficit hyperactivity disorder, Weight loss ORPHA:440437
Alveolar Echinococcosis
Eosinophilia, Jaundice, Pedal edema, Weight loss, Cutaneous abscess ORPHA:284
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:54251
Overlap Myositis
Abnormal circulating lipid concentration, Elevated circulating creatine kinase concentration, Dys... ORPHA:206572
Medullary Thyroid Carcinoma
Dysphagia, Weight loss ORPHA:1332
Cerebrotendinous Xanthomatosis
Prematurely aged appearance, Aggressive behavior, Abnormal eyelid morphology, Agitation, Attentio... ORPHA:909
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Elevated circulat... ORPHA:2388
Vascular Ehlers-Danlos Syndrome
Ptosis, Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Redundant skin, Prematurely aged appe... ORPHA:286
Gallbladder Neuroendocrine Tumor
Weight loss, Ascites, Anorexia, Intermittent jaundice ORPHA:100086
Polycythemia Vera
Pruritus, Bruising susceptibility, Weight loss ORPHA:729
Oculogastrointestinal Muscular Dystrophy
Cachexia, Ptosis ORPHA:1876
Mucolipidosis Type Ii
Epicanthus, Weight loss, Shallow orbits, Telangiectases of the cheeks, Oligohydramnios ORPHA:576
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Neuroendocrine Tumor Of The Rectum
Anorexia, Facial telangiectasia, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Facial telangiectasia, Weight loss ORPHA:100082
Lynch Syndrome
Death in infancy, Death in early adulthood, Attention deficit hyperactivity disorder, Weight loss ORPHA:144
Cap Polyposis
Weight loss ORPHA:160148
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Progeroid facial appearance, Polyhydramnios, Shallow orbits, Fai... OMIM:614098
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Familial Thrombocytosis
Pruritus, Miscarriage, Weight loss ORPHA:71493
Lenz-Majewski Hyperostotic Dwarfism
Abnormal nasolacrimal system morphology, Redundant skin, Prematurely aged appearance ORPHA:2658
Pulmonary Alveolar Microlithiasis
Cyanosis, Abnormal circulating calcium concentration, Weight loss, Peripheral edema, Increased ci... ORPHA:60025
Immunodeficiency 82 With Systemic Inflammation
Skin rash, Recurrent skin infections, Elevated circulating C-reactive protein concentration, Anor... OMIM:619381
Juvenile Amyotrophic Lateral Sclerosis
Cachexia, Dysphagia ORPHA:300605
Igg4-Related Dacryoadenitis And Sialadenitis
Palpebral edema, Facial edema, Enlarged lacrimal glands, Xerostomia, Abnormality of the orbital r... ORPHA:79078
Multiple Myeloma
Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Hyperproteinemia, Pleu... ORPHA:29073
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... ORPHA:79102
Felty Syndrome
Weight loss ORPHA:47612
Rett Syndrome
Stereotypical hand wringing, Cachexia, Bruxism OMIM:312750
Liposarcoma
Weight loss ORPHA:69078
Fanconi Anemia
Epicanthus, Abnormal eyelid morphology, Almond-shaped palpebral fissure, Oligohydramnios, Weight ... ORPHA:84
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Bannayan-Riley-Ruvalcaba Syndrome
Cutis marmorata, Cachexia, Lymphedema, Telangiectasia, Subcutaneous hemorrhage ORPHA:109
Neuroendocrine Tumor Of Stomach
Anorexia, Dermatological manifestations of systemic disorders, Facial telangiectasia, Weight loss ORPHA:100075
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Trisomy 18
Blepharophimosis, Epicanthus, Cachexia, Oligohydramnios ORPHA:3380
Hereditary Late-Onset Parkinson Disease
Impulsivity, Agitation, Dysphagia, Weight loss ORPHA:411602
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Weight loss ORPHA:221098
Saul-Wilson Syndrome
Prominent superficial veins, Progeroid facial appearance OMIM:618150
Nocardiosis
Anorexia, Dacryocystitis, Weight loss, Conjunctivitis, Pleural effusion, Cutaneous abscess ORPHA:31204
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Eosinophilia, Elevated circulating C-reactive protein conce... ORPHA:449395
Proteus Syndrome
Generalized hyperkeratosis, Cachexia, Lymphedema, Retinal hamartoma, Abnormal subcutaneous fat ti... ORPHA:744
African Trypanosomiasis
Miscarriage, Aggressive behavior, Pruritus, Jaundice, Weight loss, Conjunctivitis, Abnormality of... ORPHA:3385
Sarcoidosis
Maculopapular exanthema, Hypercalcemia, Eosinophilia, Erythema nodosum, Dacryocystitis, Enlarged ... ORPHA:797
Silver-Russell Syndrome
Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Gerstmann-Straussler Disease
Aggressive behavior, Weight loss OMIM:137440
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Agitation, Small for gestational age, Weight loss ORPHA:424
Nephroblastoma
Weight loss ORPHA:654
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Juvenile Polyposis Of Infancy
Cachexia, Downslanted palpebral fissures, Hypoalbuminemia, Subcutaneous lipoma ORPHA:79076
Behçet Disease
Acne, Anorexia, Weight loss, Keratoconjunctivitis sicca, Pleural effusion ORPHA:117
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Dysphagia, Weight loss ORPHA:1018
Chromosome Xp11.3 Deletion Syndrome
Progeroid facial appearance OMIM:300578
Nijmegen Breakage Syndrome
Cachexia, Abnormal eyelid morphology, Upslanted palpebral fissure, Attention deficit hyperactivit... ORPHA:647
Immunodeficiency 31C
Eczema, Chronic mucocutaneous candidiasis, Weight loss, Chronic oral candidiasis, Recurrent vulvo... OMIM:614162
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Ileal Neuroendocrine Tumor
Dermatological manifestations of systemic disorders, Edema, Weight loss ORPHA:100078
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Poor wound healing, Cachexia, Skin ulcer, Abnormal temper tantrums, Ecchymosis, Ptosis ORPHA:2072
Parathyroid Carcinoma
Hypercalcemia, Weight loss, Hypophosphatemia, Dysphagia, Polydipsia ORPHA:143
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Anorexia, Cachexia, Ptosis ORPHA:1969
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Dysphagia, Polyhydramnios, Weight loss ORPHA:2020
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Skin rash, Elevated circulating C-reactive protein concentration, Weight loss OMIM:301074
Pancreatoblastoma
Jaundice, Elevated maternal serum alpha-fetoprotein, Weight loss ORPHA:677
Thymoma
Weight loss ORPHA:99867
Sarcoidosis, Susceptibility To, 1
Anorexia, Pericardial effusion, Enlarged lacrimal glands, Weight loss, Pleural effusion OMIM:181000
Familial Pancreatic Carcinoma
Jaundice, Anorexia, Weight loss ORPHA:1333
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Weight loss ORPHA:99819
Marfan Syndrome
Cachexia, Downslanted palpebral fissures, Attention deficit hyperactivity disorder, Slender build... ORPHA:558
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Carney-Stratakis Syndrome
Dysphagia, Weight loss ORPHA:97286
Tubulointerstitial Nephritis And Uveitis Syndrome
Skin rash, Elevated circulating C-reactive protein concentration, Anorexia, Elevated circulating ... ORPHA:91500
Klatskin Tumor
Jaundice, Weight loss ORPHA:99978
Xeroderma Pigmentosum, Complementation Group B
Cutaneous photosensitivity, Progeroid facial appearance OMIM:610651
Craniofacial Microsomia 1
Limbal dermoid, Blepharophimosis, Upper eyelid coloboma, Ptosis OMIM:164210
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Malt Lymphoma
Abnormal nasolacrimal system morphology, Weight loss ORPHA:52417
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol... ORPHA:77293
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Joint swelling, Weight loss ORPHA:85408
Goodpasture Syndrome
Weight loss, Cyanosis, Pallor, Increased blood urea nitrogen OMIM:233450
Pyomyositis
Recurrent cutaneous abscess formation, Weight loss ORPHA:764
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Tropical Pancreatitis
Jaundice, Weight loss ORPHA:103918
Camurati-Engelmann Disease
Abnormal subcutaneous fat tissue distribution, Slender build, Cachexia, Anorexia ORPHA:1328
Tropical Endomyocardial Fibrosis
Eosinophilia, Cachexia, Pedal edema, Peripheral edema, Hypoalbuminemia, Ascites ORPHA:75565
Stickler Syndrome
Cachexia, Epicanthus, Slender build, Telecanthus ORPHA:828
Norrie Disease
Cachexia, Self-injurious behavior, Attention deficit hyperactivity disorder, Failure to thrive, A... ORPHA:649

Histopathology

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

There is no histopathology data for Zfp750

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Zfp750.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
ZFP750 affects the cutaneous barrier through regulating lipid metabolism. Science advances (April 2023) Zfp750tm1a(EUCOMM)Wtsi PMC10146900

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Zfp750tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Zfp750tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Zfp750em1(IMPC)J Exon Deletion Mice

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