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Gene: Nags MGI:2387600

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

N-acetylglutamate synthase

Synonyms:

1700120E20Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Nags mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Nags (2 diseases)
Human diseases predicted to be associated with Nags (427 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
N-Acetylglutamate Synthase Deficiency		Failure to thrive, Hyperglutamatemia, Hyperammonemia	OMIM:237310
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency		Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Hyperalaninemia, Failure to thrive	ORPHA:927

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

Disease	Matching phenotypes	Source
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication	ORPHA:147
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperlysinemia, Hyperlysinuria, Hyperammonemia	OMIM:238750
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Argininemia	Diaminoaciduria, Hyperammonemia	ORPHA:90
Saccharopinuria	Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul...	ORPHA:3124
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar...	ORPHA:2722
Hyperinsulinemic Hypoglycemia, Familial, 6	Failure to thrive, Asymptomatic hyperammonemia	OMIM:606762
Argininosuccinic Aciduria	Abnormal hair quantity, Trichorrhexis nodosa, Hyperglutaminemia, Hyperammonemia, Aminoaciduria, H...	ORPHA:23
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammonemia	ORPHA:6
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Small for gestational age, Hyperammonemia, Elevated circulating suberic...	OMIM:615160
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
N-Acetylglutamate Synthase Deficiency	Failure to thrive, Hyperglutamatemia, Hyperammonemia	OMIM:237310
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hyperammonemia	ORPHA:664
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Hyperammonemia	ORPHA:28
Patent Ductus Venosus	Hypergalactosemia, Hyperammonemia	OMIM:601466
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Developmental And Epileptic Encephalopathy 82	Hyperammonemia, Decreased body weight	OMIM:618721
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Pyruvate Dehydrogenase E1-Beta Deficiency	Hyperammonemia	OMIM:614111
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Failure to thrive, Hypoargi...	OMIM:237300
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Alopecia, Hyperglycinuria, Hyperammonemia, Hyperleucinemia, Failure to thrive	OMIM:210210
Hawkinsinuria	Sparse hair, Abnormal circulating tyrosine concentration, Failure to thrive, Fine hair	ORPHA:2118
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hyperornithinemia, Failure to thrive, Homocitrullinuria, Hyperammonemia	OMIM:238970
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis	ORPHA:1008
Argininosuccinic Aciduria	Dry hair, Brittle hair, Trichorrhexis nodosa, Hyperglutaminemia, Hyperammonemia, Episodic ammonia...	OMIM:207900
Pyruvate Dehydrogenase E3 Deficiency	Elevated circulating branched chain amino acid concentration, Hyperammonemia, Hyperisoleucinemia,...	ORPHA:2394
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Failure to thrive, Small for gestational age, Hyperammonemia	OMIM:614702
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Hyperammonemia, Argininosuccinic aciduria, Hyperargininemia, Elevated plasm...	OMIM:603471
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Hyperalaninemia, Failure to thrive	ORPHA:927
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Cutis Laxa, Autosomal Recessive, Type Iiia	Low plasma citrulline, Hyperammonemia, Hypoprolinemia, Hypoornithinemia, Sparse hair, Failure to ...	OMIM:219150
Propionic Acidemia	Hyperammonemia	ORPHA:35
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Holocarboxylase Synthetase Deficiency	Alopecia, Hyperammonemia, Weight loss	ORPHA:79242
Oliver-Mcfarlane Syndrome	Alopecia, Small for gestational age, Long eyebrows, Long eyelashes, Sparse hair	OMIM:275400
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Moynahan Syndrome	Sparse hair, Alopecia, Cachexia	ORPHA:2574
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair, Small for gestational age, Hyperammonemia	OMIM:618253
Splenoportal Vascular Anomalies	Hyperammonemia	OMIM:271500
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Small for gestational age, Long eyelashes, Sparse hair, Neonatal hyperbilirubinemia	ORPHA:3363
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hyperalaninemia, Failure to thrive, Hyperammonemia	OMIM:614739
Hyperinsulinism-Hyperammonemia Syndrome	Asymptomatic hyperammonemia	ORPHA:35878
Mitochondrial Dna Depletion Syndrome 17	Low plasma citrulline, Hyperammonemia	OMIM:618567
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:618416
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/...	ORPHA:1818
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Decreased body weight, Sparse hair, F...	ORPHA:2985
Citrullinemia Type I	Elevated plasma citrulline, Failure to thrive, Hyperammonemia	ORPHA:247525
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Propionic Acidemia	Failure to thrive, Hyperglycinuria, Hyperglycinemia, Hyperammonemia	OMIM:606054
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Hyperammonemia	ORPHA:79312
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Sparse hair, Widow's peak, Thick eyebrow	OMIM:606242
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hyperammonemia	OMIM:620137
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:618120
Syndromic X-Linked Intellectual Disability 7	Obesity, Sparse body hair	ORPHA:85274
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Congenital Disorder Of Glycosylation, Type Ip	Low anterior hairline, Hyperammonemia	OMIM:613661
Glutamine Deficiency, Congenital	Hypoglutaminemia, Neonatal death, Hyperammonemia	OMIM:610015
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia, Decreased plasma total carnitine, Elevated circulating creatine kinase concentration, H...	ORPHA:42
Carnitine Deficiency, Systemic Primary	Failure to thrive, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:212140
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Aredyld	Generalized hypotrichosis	OMIM:207780
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair	ORPHA:401911
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Failure to thrive, Elevated circulating alpha-feto...	OMIM:617049
Xq27.3Q28 Duplication Syndrome	Truncal obesity, Failure to thrive, Sparse body hair	ORPHA:261483
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair	OMIM:129490
Hawkinsinuria	Hypertyrosinemia, Failure to thrive, Sparse hair	OMIM:140350
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:600649
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair...	OMIM:224750
Lysinuric Protein Intolerance	Hypolysinemia, Increased circulating ferritin concentration, Hyperammonemia, Fine hair, Truncal o...	OMIM:222700
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hyperammonemia	ORPHA:289916
Heyn-Sproul-Jackson Syndrome	Sparse hair, Decreased body weight	OMIM:618724
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy	OMIM:619692
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Failure to thrive, Hyperglycinemia, Hyperammonemia	OMIM:251000
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha...	OMIM:613102
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow	ORPHA:79133
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail	ORPHA:2251
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Trichohepatoenteric Syndrome 2	Brittle hair, Small for gestational age, Decreased serum iron, Uncombable hair, Sparse hair, Wool...	OMIM:614602
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglutamatemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hyperglycinemia, Hyper...	OMIM:620358
Citrullinemia, Classic	Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated plasma citrulline, Fai...	OMIM:215700
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Mitochondrial Trifunctional Protein Deficiency 2	Neonatal death, Increased circulating NT-proBNP concentration, Elevated circulating creatine kina...	OMIM:620300
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair...	ORPHA:90368
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Hyperalaninemia, Hyperammonemia	OMIM:619051
Combined Oxidative Phosphorylation Deficiency 5	Hyperammonemia	OMIM:611719
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair	OMIM:618625
Carnitine Palmitoyltransferase I Deficiency	Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:255120
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Hypoplastic toenails, Elevated circulating lo...	OMIM:608836
Hyperlysinemia	Failure to thrive, Argininuria, Hyperammonemia, Cystinuria, Hyperlysinuria, Hypoornithinemia, Thi...	ORPHA:2203
Focal Facial Dermal Dysplasia 3, Setleis Type	Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes	OMIM:227260
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat...	ORPHA:26793
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Hyperammonem...	OMIM:311250
Isolated Atp Synthase Deficiency	Hyperalaninemia, Hyperammonemia	ORPHA:254913
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine...	ORPHA:99901
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, H...	OMIM:617093
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Infantile Liver Failure Syndrome 2	Hyperammonemia	OMIM:616483
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Hy...	ORPHA:71212
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hyperuricemia, Hyperammonemia	OMIM:246450
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hyperammonemia	ORPHA:27
Combined Oxidative Phosphorylation Deficiency 27	Failure to thrive, Hyperammonemia	OMIM:616672
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Small for gestational age, Hyperammonemia, Hyperalaninemia, Failure to thrive, Thick eyebrow	OMIM:615471
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Combined Oxidative Phosphorylation Deficiency 4	Hyperammonemia	OMIM:610678
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Failure to thrive, Hyperammonemia	OMIM:615453
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair	OMIM:618535
Hsd10 Disease, Infantile Type	Hyperammonemia	ORPHA:391428
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Decreased body weight	ORPHA:1667
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Failure to thrive, Hyperglycinemia, Hyperammonemia	OMIM:251110
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hyperammonemia	ORPHA:1194
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Small for gestational age, Hyperammonemia, Neonatal death, Hyperalaninemia, Failure to thrive	OMIM:614052
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp...	OMIM:602400
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen...	ORPHA:2890
Holocarboxylase Synthetase Deficiency	Alopecia, Hyperammonemia	OMIM:253270
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Failure to thrive	OMIM:210200
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype...	OMIM:615751
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Obesity, Low posterior hairline	ORPHA:2183
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:201475
Rett Syndrome	Increased serum pyruvate, Failure to thrive, Hyperammonemia	ORPHA:778
Filippi Syndrome	Sparse hair, Frontal hirsutism, Hypertrichosis, Decreased body weight	OMIM:272440
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Small for gestational age, Sparse facial hair, Sparse axillary hair, Failure to thrive, Slender b...	OMIM:608154
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair	ORPHA:1006
Argininemia	Diaminoaciduria, Hyperargininemia, Hyperammonemia	OMIM:207800
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hyperammonemia,...	ORPHA:3008
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing...	OMIM:604536
Beta-Ketothiolase Deficiency	Hyperuricemia, Hyperammonemia, Weight loss	ORPHA:134
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Failure to thrive, Hyperglycinemia, Hyperammonemia	OMIM:251100
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair	ORPHA:79402
Interstitial Lung And Liver Disease	Aminoaciduria, Failure to thrive, Hyperammonemia	OMIM:615486
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concent...	OMIM:242150
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Elevated circulating creatine kinase concentrat...	ORPHA:26791
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Elevated creatine kinase after exercise, Hypera...	ORPHA:159
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:212138
Progeroid Syndrome, Petty Type	Brittle hair, Abnormal hair morphology, Generalized hirsutism, Long eyelashes in irregular rows, ...	ORPHA:2963
Intellectual Developmental Disorder, Autosomal Recessive 5	Small for gestational age, Elevated circulating creatine kinase concentration, Synophrys, Sparse ...	OMIM:611091
Biotinidase Deficiency	Alopecia, Hyperammonemia	OMIM:253260
Dermoodontodysplasia	Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair	ORPHA:1660
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Abnormal fingernail morphology, Sparse body hair	ORPHA:1810
Infantile Liver Failure Syndrome 3	Hyperammonemia	OMIM:618641
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Sparse hair, Aminoaciduria, Hypoplastic nipples, Small nail	OMIM:273400
Congenital Enterovirus Infection	Hypoalbuminemia, Hyperammonemia	ORPHA:292
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Dystrophic toenail, Pat...	ORPHA:2930
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:181
3-Hydroxy-3-Methylglutaric Aciduria	Hyperuricemia, Hyperammonemia, Weight loss	ORPHA:20
Developmental And Epileptic Encephalopathy 50	Failure to thrive, Hyperammonemia	OMIM:616457
Gand Syndrome	Sparse hair	OMIM:615074
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ...	ORPHA:1807
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Failure to thrive, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Nicolaides-Baraitser Syndrome	Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair	ORPHA:3051
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Elevated circulating creatine kinase concentrat...	OMIM:616878
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Elevated circulating creatine kinase concentrat...	ORPHA:480864
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ...	OMIM:234050
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228308
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair	ORPHA:1897
Bazex-Dupre-Christol Syndrome	Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa	OMIM:301845
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair	ORPHA:59303
Biotinidase Deficiency	Alopecia, Hyperammonemia	ORPHA:79241
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Failure to thrive, Nail dystrophy	OMIM:616353
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow	OMIM:616819
Chromosome Xq27.3-Q28 Duplication Syndrome	Abdominal obesity, Small for gestational age, Sparse body hair	OMIM:300869
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Hyperammonemia, Elevated circulating palmitoleylcarnit...	ORPHA:79282
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Beta-alaninuria, Elevated urinary aminoisobutyric acid, Sparse hair	OMIM:614105
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hyperornithinemia, Failure to thrive, Abnormal circulating citrulline concentration, Hyperammonemia	ORPHA:415
Trichothiodystrophy 8, Nonphotosensitive	Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa	OMIM:619691
Blepharocheilodontic Syndrome 1	Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis	OMIM:119580
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair	OMIM:613576
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair	OMIM:273390
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Coarse hair, Brittle hair	ORPHA:1883
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ...	OMIM:300953
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic...	OMIM:614941
Menkes Disease	Brittle hair, Alopecia, Decreased circulating ceruloplasmin concentration, Sparse hair	OMIM:309400
Anauxetic Dysplasia 2	Sparse hair, Nail dysplasia, Small nail	OMIM:617396
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse hair, Failure to thrive	ORPHA:2316
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Obesity, Sparse body hair	ORPHA:2234
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Ichthyosis, Congenital, Autosomal Recessive 1	Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia	OMIM:242300
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Small for gestational age, Synophrys, Low anterior hairline, Fine hair, Decreased body weight, Sp...	ORPHA:391408
19Q13.11 Microdeletion Syndrome	Cachexia, Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hai...	ORPHA:217346
Trichothiodystrophy 1, Photosensitive	Brittle hair, Small for gestational age, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy,...	OMIM:601675
Tetrasomy 12P	Sparse hair, Sparse eyebrow, Cachexia	ORPHA:884
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:610505
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse hair, Sparse eyebrow	OMIM:619989
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sparse hair, Small for gestational age, Fine hair	OMIM:616817
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair, Failure to thrive	OMIM:620001
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair	ORPHA:1839
Cranioectodermal Dysplasia	Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology	ORPHA:1515
Fanconi Anemia, Complementation Group S	Sparse hair, Failure to thrive, Low anterior hairline, Long eyelashes	OMIM:617883
Cerebrooculofacioskeletal Syndrome 2	Sparse hair, Small for gestational age	OMIM:610756
Even-Plus Syndrome	Sparse hair, Synophrys, Highly arched eyebrow	OMIM:616854
Lelis Syndrome	Yellow nails, Absent lower eyelashes, Nail dystrophy, Sparse hair, Abnormal toenail morphology, S...	ORPHA:140936
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair	ORPHA:69735
Liver Disease, Severe Congenital	Hyponatremia, Dry hair, Elevated circulating alpha-fetoprotein concentration, Increased circulati...	OMIM:619991
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive...	OMIM:129400
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Sparse hair, Alopecia of scalp	OMIM:615280
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey...	ORPHA:1787
2Q32Q33 Microdeletion Syndrome	Sparse hair, Fine hair	ORPHA:251019
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Failure to thrive	OMIM:617988
Xp22.13P22.2 Duplication Syndrome	Sparse hair, Truncal obesity, High anterior hairline	ORPHA:284180
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair	OMIM:608615
Desbuquois Syndrome	Sparse hair, Abnormal eyelash morphology	ORPHA:1425
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin...	ORPHA:99826
Cardiocranial Syndrome, Pfeiffer Type	Sparse hair, Abnormal hair whorl	ORPHA:2872
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst...	ORPHA:3253
Olmsted Syndrome 1	Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis	OMIM:614594
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Failure to thrive, Hyperconvex nail	OMIM:619721
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Sparse hair, Failure to thrive, Nail dystrophy	ORPHA:98813
Intellectual Developmental Disorder, Autosomal Dominant 65	Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline	OMIM:619320
Noonan Syndrome 6	Sparse hair, Curly hair, Long eyebrows, Low posterior hairline	OMIM:613224
Chromosome 5P13 Duplication Syndrome	Sparse hair, Small for gestational age, Low posterior hairline	OMIM:613174
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Small for gestational age, Highly arched eyebrow, Low anterior hairline, Hyperammonemia, Failure ...	OMIM:220111
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Olmsted Syndrome 2	Sparse hair, Woolly hair, Alopecia universalis	OMIM:619208
Ifap Syndrome 2	Sparse hair, Nail dystrophy, Atrichia	OMIM:619016
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Elevated circulating C-reactive protein concentration, Nail dystro...	OMIM:615934
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Brittle hair, Absent nipple, Absent hair	OMIM:614940
Joubert Syndrome 37	Sparse hair, Obesity	OMIM:619185
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Sparse hair, Hirsutism	OMIM:618087
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sparse hair, Curly hair, Synophrys, Sparse eyebrow	OMIM:620075
Bathing Suit Ichthyosis	Sparse hair, Alopecia, Nail dystrophy	ORPHA:100976
Ruijs-Aalfs Syndrome	Premature graying of hair, Sparse hair, Decreased body weight	OMIM:616200
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Patch...	OMIM:302960
Rhizomelic Chondrodysplasia Punctata	Alopecia, Sparse body hair	ORPHA:177
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Small for gestational age, Fine hair, Increased serum iron, Hypoalbumin...	OMIM:222470
Borjeson-Forssman-Lehmann Syndrome	Sparse hair, Truncal obesity, Thick eyebrow	ORPHA:127
Mandibuloacral Dysplasia	Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Sparse hair, Hyperch...	ORPHA:2457
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp...	OMIM:190350
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ...	OMIM:257980
Incontinentia Pigmenti	Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Breast aplasia, H...	OMIM:308300
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Braddock-Carey Syndrome 1	Sparse hair, Curly hair	OMIM:619980
Aredyld Syndrome	Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Cachexia	ORPHA:1133
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia	OMIM:617763
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Sparse hair, Failure to thrive, Hypernatremia, Hypoalbuminemia	OMIM:615508
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Sparse hair, Failure to thrive	OMIM:613026
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,...	ORPHA:1010
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail...	OMIM:106260
Adams-Oliver Syndrome	Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Failure to thrive, Hypopl...	ORPHA:974
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails	ORPHA:77258
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair	OMIM:607626
Lamellar Ichthyosis	Sparse hair, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow	ORPHA:313
Short Syndrome	Sparse hair, Alopecia, Weight loss	ORPHA:3163
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse hair, Sparse eyelashes, Sparse eyebrow	OMIM:224900
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Thick hair, Coarse hair, Abnormal circulating apolipoprotein concentration, Sparse hair, Failure ...	ORPHA:357074
Macs Syndrome	Sparse hair, Alopecia, Sparse eyebrow, Decreased body weight	OMIM:613075
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Supernumerary nipple, Synophrys, Hirsutism, Long eyelashes, Thin eyebrow, ...	OMIM:615485
Cardiofaciocutaneous Syndrome	Brittle hair, Failure to thrive in infancy, Slow-growing hair, Abnormal eyelash morphology, Low p...	ORPHA:1340
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Hyperlipidemia, Brittle hair	OMIM:608612
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Sparse lateral eyebrow	OMIM:190351
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp...	OMIM:305100
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Sparse hair, Alopecia, Abnormal fingernail morphology	ORPHA:659
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Small for gestational age, Sparse eyelashes, Absent ...	OMIM:268400
Congenital Disorder Of Glycosylation, Type Iia	Hirsutism, Long eyelashes, Sparse hair, Failure to thrive, Thick eyebrow	OMIM:212066
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair	OMIM:250250
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Failure to thrive, Sparse eyelashes, Fine hair	OMIM:257850
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection	OMIM:158310
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair	OMIM:268020
Ectodermal Dysplasia-Blindness Syndrome	Sparse hair, Abnormal fingernail morphology, Fine hair	ORPHA:1806
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair	OMIM:613451
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Sparse hair, Alopecia, Abnormal toenail morphology	ORPHA:1005
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Brittle hair, Small for gestational age, Failure to thrive in infancy, Fine hair, Sparse hair	OMIM:618891
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Small for gestational age, Nail dysplasia, Small nail, Sparse hair, Failure to thrive, Breast hyp...	OMIM:614813
Rothmund-Thomson Syndrome	Calcinosis, Small for gestational age, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small ...	ORPHA:2909
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair	OMIM:614091
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Low posterior hairline, Sparse h...	OMIM:115150
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Coarse hair, Sparse...	OMIM:617506
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Premature graying of hair, Sparse hair, H...	ORPHA:363618
White-Sutton Syndrome	Sparse hair, Failure to thrive, Obesity	OMIM:616364
Papillon-Lefèvre Syndrome	Abnormal fingernail morphology, Nail dystrophy, Abnormality of the nail, Sparse body hair, Genera...	ORPHA:678
Noonan Syndrome 14	Sparse hair, Curly hair, Sparse eyebrow, Low posterior hairline	OMIM:619745
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Large for gestational age, Loose anagen hair, Long eyelashes, Spar...	OMIM:607721
Acute Liver Failure	Hyperammonemia	ORPHA:90062
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline	OMIM:250410
Phosphoribosylpyrophosphate Synthetase Superactivity	Sparse hair, Small for gestational age, Hyperuricemia	OMIM:300661
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair	OMIM:127550
Short Stature, Microcephaly, And Endocrine Dysfunction	Sparse hair, Truncal obesity, Abnormal circulating lipid concentration	OMIM:616541
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails...	ORPHA:1071
Scarf Syndrome	Sparse hair, Hypoplastic nipples, Low posterior hairline	ORPHA:3134
Bone Marrow Failure Syndrome 3	Nail dystrophy, Small nail, Sparse hair, Failure to thrive, Aplasia/Hypoplasia of the eyebrow	OMIM:617052
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Sparse ha...	ORPHA:2710
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Sparse hair, Decreased body weight	OMIM:615349
Revesz Syndrome	Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail	OMIM:268130
Nablus Mask-Like Facial Syndrome	Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,...	OMIM:608156
Down Syndrome	Sparse hair, Obesity	ORPHA:870
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Small for gestational age, Sparse eyebrow, Fine hair, Sparse...	OMIM:234100
Hamamy Syndrome	Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh...	OMIM:611174
Kid Syndrome	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Trichilemmoma, Nail dystrophy, Spar...	ORPHA:477
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Sparse medial eyebrow, Low anterior hairline, Low po...	OMIM:601358
Naxos Disease	Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S...	OMIM:601214
Ectodermal Dysplasia And Immunodeficiency 2	Sparse hair, Aplasia of the sweat glands, Failure to thrive, Sparse scalp hair	OMIM:612132
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre...	OMIM:230740
Kaufman Oculocerebrofacial Syndrome	Sparse hair, Failure to thrive, Sparse eyebrow, Hypocholesterolemia	OMIM:244450
Osteogenesis Imperfecta, Type Xx	Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow	OMIM:618644
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys...	OMIM:150400
Scarf Syndrome	Sparse hair, Low anterior hairline, Hypoplastic nipples, Low posterior hairline	OMIM:312830
Rothmund-Thomson Syndrome Type 1	Calcinosis, Small for gestational age, Alopecia totalis, Sparse or absent eyelashes, Nail dysplas...	ORPHA:221008
Marshall Syndrome	Sparse hair, Sparse eyelashes, Sparse eyebrow	ORPHA:560
Mosaic Variegated Aneuploidy Syndrome 2	Sparse hair, Small for gestational age	OMIM:614114
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:612199
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse hair	OMIM:616449
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog...	ORPHA:1775
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Sparse hair, Fine hair	ORPHA:251028
Cutis Laxa, Autosomal Recessive, Type Iiib	Sparse hair, Fine hair	OMIM:614438
Cerebellar-Facial-Dental Syndrome	Sparse hair, Failure to thrive, Sparse eyebrow, Fine hair	ORPHA:444072
Glass Syndrome	Sparse hair, Long eyelashes, Nail dysplasia	OMIM:612313
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body...	ORPHA:2108
Rothmund-Thomson Syndrome Type 2	Calcinosis, Small for gestational age, Alopecia totalis, Sparse or absent eyelashes, Nail dysplas...	ORPHA:221016
Marshall-Smith Syndrome	Brittle hair, Highly arched eyebrow, Synophrys, Decreased body weight, Sparse hair, Failure to th...	OMIM:602535
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair	ORPHA:3068
Weaver Syndrome	Sparse hair, Thin nail, Deep-set nails, Fine hair	OMIM:277590
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
Cranioectodermal Dysplasia 3	Sparse hair, Short nail, Broad nail, Fine hair	OMIM:614099
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sparse hair, Synophrys, Toenail dysplasia, Hirsutism	OMIM:300966
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Highly arched eyebrow, Fine hair, Low posterior hairline, Sparse hair, Failure to thrive	OMIM:613563
Teebi-Shaltout Syndrome	Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair	OMIM:272950
Mucolipidosis Ii Alpha/Beta	Brittle hair, Increased serum beta-hexosaminidase, Sparse eyebrow, Sparse hair, Failure to thrive	OMIM:252500
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo...	ORPHA:2232
Premature Aging Syndrome, Penttinen Type	Sparse hair, Failure to thrive	OMIM:601812
Goldberg-Shprintzen Syndrome	Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow	OMIM:609460
Intellectual Developmental Disorder, Autosomal Dominant 54	Sparse hair, Small for gestational age, Thin nail	OMIM:617799
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Coarse hair	OMIM:118650
Normosmic Congenital Hypogonadotropic Hypogonadism	Eunuchoid habitus, Sparse body hair, Breast hypoplasia	ORPHA:432
De Barsy Syndrome	Sparse hair, Failure to thrive	ORPHA:2962
Cartilage-Hair Hypoplasia	Sparse hair, Failure to thrive, Hypocalcemia, Sparse eyebrow	ORPHA:175
Oculodentodigital Dysplasia	Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails	OMIM:164200
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas...	OMIM:181270
Cockayne Syndrome B	Dry hair, Small for gestational age, Abnormal hair morphology, Sparse hair, Severe failure to thr...	OMIM:133540
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai...	OMIM:129900
Opitz-Kaveggia Syndrome	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:305450
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Aplasia of the eccrine sweat glands	OMIM:300291
Agel Amyloidosis	Sparse hair, Nail dystrophy	ORPHA:85448
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	OMIM:607812
Ectodermal Dysplasia-Skin Fragility Syndrome	Sparse hair, Failure to thrive, Nail dystrophy, Alopecia universalis	ORPHA:158668
Ablepharon Macrostomia Syndrome	Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia	ORPHA:920
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Hyperlipidemia, Fine hair	OMIM:241080
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Large for gestational age, Fine hair, Hypoplastic nipples, Sparse hair, Sp...	OMIM:280000
Cranioectodermal Dysplasia 1	Slow-growing hair, Short nail, Thin nail, Fine hair, Hypocalcemia, Sparse hair	OMIM:218330
Atypical Werner Syndrome	Abnormal hair quantity, Decreased body weight, Hypertriglyceridemia, Alopecia, Abnormal hair morp...	ORPHA:79474
Neurocardiofaciodigital Syndrome	Sparse hair, Failure to thrive, Small for gestational age, Sparse eyebrow	OMIM:619869
Stuve-Wiedemann Syndrome 1	Sparse hair	OMIM:601559
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Stillbirth, Hyperbilirubinemia, S...	OMIM:210710
Myhre Syndrome	Small for gestational age, Obesity, Fine hair, Sparse hair, Thick eyebrow	OMIM:139210
Combined Immunodeficiency-Enteropathy Spectrum	Sparse hair, Absent eyebrow, Alopecia of scalp, Nail dystrophy	ORPHA:436252
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,...	ORPHA:2273
Monosomy 22	Sparse hair, Synophrys	ORPHA:96123
Orofaciodigital Syndrome Type 1	Sparse hair, Alopecia, Coarse hair, Brittle hair	ORPHA:2750
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Hypertriglyceridemia, Small for gestational age, Sparse hair, Hypercholesterol...	OMIM:606721
Lenz-Majewski Hyperostotic Dwarfism	Sparse hair, Failure to thrive	OMIM:151050
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Sparse eyebrow, Hypoplastic nipples, Small nail, Unconjugated hyperbilirubinemia, ...	OMIM:620186
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair	OMIM:311200
Cockayne Syndrome A	Sparse hair, Dry hair, Failure to thrive	OMIM:216400
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of hair	ORPHA:565
Costello Syndrome	Deep-set nails, Curly hair, Thin nail, Concave nail, Sparse hair, Failure to thrive, Fragile nails	OMIM:218040
Cranioectodermal Dysplasia 2	Sparse hair, Sparse eyelashes, Sparse eyebrow, Hyperbilirubinemia	OMIM:613610
Chilton-Okur-Chung Neurodevelopmental Syndrome	Sparse scalp hair, Highly arched eyebrow, Sparse eyebrow, Synophrys, Low anterior hairline, Long ...	OMIM:619841
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Sparse pubic hair, Failure to thrive, Sparse body hair, Sparse axillary hair	ORPHA:90796
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c, Sparse eyebrow, Nail dystrophy, Sparse hair	OMIM:619127
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sparse hair, Frontal hirsutism, Failure to thrive, Obesity	OMIM:617157
Chime Syndrome	Sparse hair, Fine hair	ORPHA:3474
Scalp-Ear-Nipple Syndrome	Sparse hair, Breast aplasia, Abnormal fingernail morphology	ORPHA:2036
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair	OMIM:619934
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Supernumerary nipple, Patchy alopecia, Nail dystrophy, Hypoplastic nip...	OMIM:305600
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Sparse hair	OMIM:620005
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Hypertriglyceridemia, Synophrys, Sparse hair, Failure to thrive, Slender build...	ORPHA:3455
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow	ORPHA:2636
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Hypoplastic fingernail	OMIM:200110
Roberts Syndrome	Sparse hair	ORPHA:3103
Wrinkly Skin Syndrome	Sparse hair, Failure to thrive, High nonceruloplasmin-bound serum copper	ORPHA:2834
Renpenning Syndrome 1	Sparse hair, Brittle hair, Sparse lateral eyebrow	OMIM:309500
Wrinkly Skin Syndrome	Sparse hair, Failure to thrive, Short nail, Fragile nails	OMIM:278250
Restrictive Dermopathy	Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Sparse or absent eye...	ORPHA:1662
Leprosy	Absent eyebrow, Alopecia, Loss of eyelashes, Sparse body hair	ORPHA:548
Trichorhinophalangeal Syndrome, Type Ii	Sparse scalp hair, Thick eyebrow, Sparse hair, Alopecia of scalp, Fragile nails	OMIM:150230
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Sparse hair, Nail dysplasia	OMIM:616682
Primrose Syndrome	Sparse scalp hair, Absent facial hair, Elevated circulating alpha-fetoprotein concentration, Syno...	OMIM:259050
Menke-Hennekam Syndrome 1	Sparse hair, Long eyelashes, Thick eyebrow	OMIM:618332
Branchiooculofacial Syndrome	Supernumerary nipple, Low posterior hairline, Premature graying of hair, White forelock, Sparse h...	OMIM:113620
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter...	OMIM:601803
Roberts-Sc Phocomelia Syndrome	Sparse hair, Stillbirth	OMIM:268300

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 Nags

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 Nags.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase.	Scientific reports (February 2021)	Nags^{tm1(KOMP)Vlcg}	PMC7878489
A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue.	Molecular genetics and metabolism (October 2016)	Nags^{tm1(KOMP)Vlcg}	27771289
A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase.	Molecular genetics and metabolism (March 2012)	Nags^{tm1(KOMP)Vlcg}	PMC3356441

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
Nags^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Nags^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Nags^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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