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Gene: Supt7l MGI:1919445

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Gene Summary

Name:
SPT7-like, STAGA complex gamma subunit
Synonyms:
2610524B01Rik,  6030455L14Rik

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
decreased body weight Supt7ltm1a(EUCOMM)Wtsi HET Early adult 1.71×10-06
abnormal lens morphology Supt7ltm1a(EUCOMM)Wtsi HET   Early adult 3.31×10-05
cataract Supt7ltm1a(EUCOMM)Wtsi HET   Early adult 3.17×10-05
abnormal hair texture Supt7ltm1a(EUCOMM)Wtsi HET Early adult 3.72×10-07
decreased total body fat amount Supt7ltm1a(EUCOMM)Wtsi HET Early adult 3.73×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 50% (1 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Supt7ltm1a(EUCOMM)Wtsi
body, WT, Female, WTSI
Supt7ltm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Supt7ltm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Supt7ltm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Supt7ltm1a(EUCOMM)Wtsi
body, WT, Male, WTSI

View all 109 images

Supt7ltm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Supt7ltm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Supt7l 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Supt7l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Uncombable Hair Syndrome 2
Uncombable hair, Juvenile cataract, Pili canaliculi OMIM:617251
Woolly Hair
Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,... ORPHA:170
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo... ORPHA:573
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Cataract 42
Cataract, Developmental cataract OMIM:115900
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... ORPHA:2891
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... ORPHA:2889
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Nathalie Syndrome
Cataract ORPHA:2663
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Cataract, Abnormal fingernail morphology ORPHA:2278
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
X-Linked Retinoschisis
Cataract ORPHA:792
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Galactosemia Iv
Cataract OMIM:618881
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Clouston Syndrome
Alopecia, Brittle hair, Cataract, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse e... OMIM:129500
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Small for gestational age, Hirsutism ORPHA:85288
Bardet-Biedl Syndrome 18
Cataract, Obesity OMIM:615995
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Pili Torti, Early-Onset
Dry hair, Brittle hair, Enamel hypoplasia, Coarse hair, Hair shafts flattened at irregular interv... OMIM:261900
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Trichodental Dysplasia
Brittle hair, Slow-growing hair, Odontodysplasia, Fine hair, Sparse hair OMIM:601453
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Galactosemia Ii
Cataract OMIM:230200
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... OMIM:194300
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Juvenile cataract, Sparse hair ORPHA:1264
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Corneal opacity, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Spa... OMIM:602400
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Keloid... ORPHA:2890
Hawkinsinuria
Sparse hair, Failure to thrive, Fine hair ORPHA:2118
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Inguinal hernia, Cataract, Small for gestational age, Decreased body weight OMIM:618392
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Trichothiodystrophy 6, Nonphotosensitive
Brittle hair, Slow-growing hair, Small for gestational age, Microcornea, Tiger tail banding OMIM:616943
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Inguinal hernia, Fine hair ORPHA:1174
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Cataract 47
Microcornea, Cataract OMIM:612018
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Cataract, Childhood-onset truncal obesity OMIM:610156
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Hypodontia-Dysplasia Of Nails Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... ORPHA:2228
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Nathalie Syndrome
Cataract OMIM:255990
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Brittle hair, Lipoatrophy, Abnormal hair morphology, Abnorma... ORPHA:2963
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Microcornea, Keratocon... OMIM:234050
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Carvajal Syndrome
Woolly hair ORPHA:65282
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Atypical scarring of skin, Nail dystrophy, Cataract, Alopecia totalis ORPHA:1366
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair OMIM:129490
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Martsolf Syndrome 2
Cataract, Camptodactyly of finger, Developmental cataract, Decreased body weight, Camptodactyly OMIM:619420
Hereditary Mucoepithelial Dysplasia
Alopecia, Cataract, Corneal dystrophy, Fine hair, Sparse hair ORPHA:1839
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Intestinal Dysmotility Syndrome
Failure to thrive, Cataract, Weight loss OMIM:620045
Congenital Varicella Syndrome
Atypical scarring of skin, Cataract ORPHA:291
Xeroderma Pigmentosum, Complementation Group G
Cataract, Small for gestational age OMIM:278780
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Umbilical hernia, Inguinal hernia, Cataract ORPHA:1373
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Naxos Disease
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture ORPHA:34217
Kahrizi Syndrome
Elbow contracture, Cataract, Iris coloboma, Knee flexion contracture OMIM:612713
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Trichohepatoenteric Syndrome 2
Brittle hair, Small for gestational age, Uncombable hair, Sparse hair, Woolly hair, Failure to th... OMIM:614602
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Stiff Skin Syndrome
Cataract, Lipodystrophy, Elbow flexion contracture, Knee flexion contracture, Camptodactyly OMIM:184900
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Galactose Epimerase Deficiency
Cataract, Weight loss ORPHA:79238
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail ORPHA:1882
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Cataract, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Conj... OMIM:612843
Erythrokeratodermia Variabilis
Alopecia, Cataract, Corneal opacity, Abnormal hair morphology, Weight loss, Abnormality of the na... ORPHA:317
Trichothiodystrophy 1, Photosensitive
Cataract, Brittle hair, Trichoschisis, Small for gestational age, Flexion contracture, Absence of... OMIM:601675
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Proximal Myotonic Myopathy
Cataract ORPHA:606
Galactose Mutarotase Deficiency
Failure to thrive, Cataract ORPHA:570422
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Copper Deficiency, Familial Benign
Curly hair, Failure to thrive, Early balding OMIM:121270
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea... ORPHA:1806
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Rodrigues Blindness
Microcornea, Sparse hair, Sclerocornea, Fine hair OMIM:268320
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Joint contracture OMIM:615704
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair, Ankle flexion contracture OMIM:619985
Retinitis Pigmentosa 40
Cataract OMIM:613801
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Pili torti, Fine hair ORPHA:1573
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism ORPHA:2221
19Q13.11 Microdeletion Syndrome
Cataract, Supernumerary nipple, Cachexia, Fine hair, Microcornea, Sparse or absent eyelashes, Nai... ORPHA:217346
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Poliosis, Abnormal eyelash morphology, ... ORPHA:3437
Distal Duplication 6P
Abnormal hair quantity, Cataract, Abnormal eyelash morphology, Fine hair, Hernia ORPHA:1745
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Cataract, Iris hypopigmentation ORPHA:67048
Ruijs-Aalfs Syndrome
Cataract, Lipodystrophy, Posterior subcapsular cataract, Elbow flexion contracture, Premature gra... OMIM:616200
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Cataract, Knee flexion contracture, Coarse hair, Sparse hair OMIM:118650
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow OMIM:617392
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Camptodactyly of finger, Coarse hair, Joint contracture of the 5th finger, Sparse hair ORPHA:1883
Pellagra-Like Syndrome
Cataract OMIM:260650
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small for gestational age, Camptodactyly of finger, Developmental cataract, Sparse hair OMIM:610756
Trichothiodystrophy 3, Photosensitive
Brittle hair, Cataract, Developmental cataract, Tiger tail banding, Failure to thrive, Trichorrhe... OMIM:616395
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of hair texture, Widow's pe... ORPHA:1520
Ifap Syndrome 2
Cataract, Keratitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Sparse hair OMIM:619016
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Sulfite Oxidase Deficiency, Isolated
Fine hair, Ectopia lentis OMIM:272300
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Weaver Syndrome
Deep-set nails, Inguinal hernia, Abnormal fingernail morphology, Thin nail, Camptodactyly of fing... ORPHA:3447
Fg Syndrome 3
Sparse hair, Joint contracture, Frontal upsweep of hair, Fine hair OMIM:300406
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Cataract 48
Cataract OMIM:618415
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Failure to thrive, Alopecia, Brittle hair ORPHA:50812
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic irritative conjunctivitis, Curly eyelashes, Concave nail, Sparse pubic hair, ... OMIM:258360
Aniridia 3
Aniridia, Cataract OMIM:617142
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding OMIM:616390
Cronkhite-Canada Syndrome
Alopecia, Cataract, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Dystrophic to... ORPHA:2930
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Acrogeria
Lipoatrophy, Fine hair ORPHA:2500
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, High anterior hairline, Long eyelashes, Fine hair ORPHA:231137
Jaberi-Elahi Syndrome
Brittle hair, Cataract, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Failure to thrive OMIM:617988
Cutis Laxa, Autosomal Recessive, Type Iia
Inguinal hernia, Brittle hair, Lipodystrophy, Abnormality of hair texture, Coarse hair, Failure t... OMIM:219200
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Cataract, Sparse eyelashes, Sparse hair, Alopecia of scalp OMIM:615280
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Brittle hair, Ectopia lentis, Lens subluxation, Failure to thrive OMIM:236200
Bazex-Dupre-Christol Syndrome
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa OMIM:301845
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Cahmr Syndrome
Lamellar cataract, Generalized hypertrichosis OMIM:211770
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Fl... ORPHA:35173
Mucoepithelial Dysplasia, Hereditary
Alopecia, Cataract, Keratoconjunctivitis, Coarse hair, Nail dystrophy, Opacification of the corne... OMIM:158310
Incontinentia Pigmenti
Ridged nail, Alopecia, Cataract, Scarring, Supernumerary nipple, Keratitis, Nail pits, Fine hair,... OMIM:308300
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Atrichia, Nail dystrophy ORPHA:1867
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Low anterior hairline, Coarse hair, Astigmatism, Umbilical hernia, Generalized hirs... ORPHA:2095
Noonan Syndrome 9
Sparse eyebrow, Curly hair, Prominent corneal nerve fibers OMIM:616559
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Concave nail, Blue irides, Fine hair, Small nail OMIM:300978
Aniridia-Absent Patella Syndrome
Aniridia, Inguinal hernia, Cataract ORPHA:1069
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Hall-Riggs Syndrome
Slow-growing hair, Abnormal dental enamel morphology, Thick hair, Coarse hair, Failure to thrive ORPHA:2107
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa OMIM:619691
Genetic Hyperferritinemia Without Iron Overload
Cataract, Fragile nails ORPHA:254704
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Obesity OMIM:601794
Olmsted Syndrome 2
Sparse hair, Woolly hair, Flexion contracture of digit, Alopecia universalis OMIM:619208
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Dorsocervical fat pad, Small for gestational age, Synophrys, Low anterior hairline, Fine hair, De... ORPHA:391408
Costello Syndrome
Keratoconus, Deep-set nails, Abnormal fingernail morphology, Abnormal dental enamel morphology, F... ORPHA:3071
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Obesity ORPHA:363741
Gyrate Atrophy Of Choroid And Retina
Abnormal hair morphology, Cataract, Subcapsular cataract ORPHA:414
Revesz Syndrome
Leukocoria, Nail pits, Fine hair, Nail dystrophy, Sparse hair, Megalocornea, Ridged fingernail OMIM:268130
Cutis Laxa, Autosomal Recessive, Type Iiib
Inguinal hernia, Cataract, Developmental glaucoma, Flexion contracture, Elbow flexion contracture... OMIM:614438
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Slow-growing hair, Abnormal hair morphology, Uncombable hair, Hernia of the abdominal wall, Aplas... ORPHA:3082
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... OMIM:300953
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... OMIM:608612
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Cataract OMIM:601811
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Abnormal dental enamel morphology, Hypoplastic toenails, Fine hai... ORPHA:1028
Netherton Syndrome
Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, Failure to thrive OMIM:256500
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Mucopolysaccharidosis, Type Iiia
Inguinal hernia, Synophrys, Coarse hair, Umbilical hernia, Hirsutism OMIM:252900
Cardiofaciocutaneous Syndrome 3
Curly hair, Failure to thrive OMIM:615279
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl... OMIM:167210
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Sparse eyelashes, Fine hair, Microcornea, Persistent pupillary membrane, Sparse hair, F... OMIM:257850
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Inguinal hernia, Abnormality of hair texture, Developmental cataract, Umbilical hernia, Failure t... ORPHA:79351
Peeling Skin Syndrome 1
Brittle hair, Onycholysis, Nail dystrophy OMIM:270300
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Vulto-Van Silfhout-De Vries Syndrome
Widow's peak, Horizontal eyebrow, Fine hair OMIM:615828
Multiple Sulfatase Deficiency
Coarse hair, Cataract, Corneal opacity, Thick eyebrow ORPHA:585
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... OMIM:129400
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Brittle hair, Developmental cataract OMIM:618810
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair, Failure to thrive OMIM:605676
Noonan Syndrome 5
Curly hair, Large for gestational age, Sparse eyebrow, Fine hair, Small nail OMIM:611553
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Cataract, Flexion contracture, Corneal scarring, Atrophic scars, Conjunctivitis, Nail d... OMIM:226600
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Small for gestational age, Fine hair OMIM:616817
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Brittle hair, Nail dystrophy ORPHA:75389
Chops Syndrome
Curly hair, Cataract, Thick hair, Synophrys, Obesity, Coarse hair, Long eyelashes, Thick eyebrow OMIM:616368
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Woolly hair, Fragile nails, Nail dystrophy, Leukonychia OMIM:615821
Mucopolysaccharidosis, Type Iiic
Synophrys, Coarse hair, Hernia, Hirsutism, Hypertrichosis OMIM:252930
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ... ORPHA:163654
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ... OMIM:257980
Giant Axonal Neuropathy
Woolly hair, Pili canaliculi ORPHA:643
2Q32Q33 Microdeletion Syndrome
Sparse hair, Fine hair ORPHA:251019
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Cataract, Iris coloboma, Corneal scarring OMIM:212550
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Fine hair ORPHA:3236
Noonan Syndrome 8
Curly hair, Failure to thrive, Large for gestational age OMIM:615355
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Synophrys, Coarse hair OMIM:616351
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Brittle hair, Absent nipple, Absent hair OMIM:614940
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Corneal erosion, Cataract, Cellulitis OMIM:614878
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Astigmatism, Hyperopic astigmatism, Fine hair ORPHA:363686
Koolen-De Vries Syndrome
Hypopigmentation of hair, Cataract, Abnormal dental enamel morphology, Abnormality of hair texture ORPHA:96169
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Trichor... ORPHA:634
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... ORPHA:978
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Multiple joint contractures, Concave na... ORPHA:33364
Koolen-De Vries Syndrome
Failure to thrive, Cataract, Small for gestational age, Abnormality of hair texture, Fair hair, I... OMIM:610443
Oculodentodigital Dysplasia
Curly hair, Cataract, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Abnormal d... ORPHA:2710
Oligoarticular Juvenile Idiopathic Arthritis
Failure to thrive, Cataract, Anterior chamber synechiae, Band keratopathy ORPHA:85410
Noonan Syndrome 6
Sparse hair, Curly hair, Long eyebrows, Low posterior hairline OMIM:613224
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Cataract, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion cont... OMIM:612394
Autoimmune Polyendocrinopathy Type 1
Alopecia, Cataract, Abnormal fingernail morphology, Opacification of the corneal stroma ORPHA:3453
Braddock-Carey Syndrome 1
Sparse hair, Curly hair, Enamel hypoplasia, Camptodactyly OMIM:619980
Fetal Hydantoin Syndrome
Coarse hair, Hypoplastic fingernail, Hernia, Low posterior hairline ORPHA:1912
Noonan Syndrome 4
Curly hair, Large for gestational age, Sparse eyebrow, Blue irides, High anterior hairline OMIM:610733
Menkes Disease
Sparse hair, Alopecia, Brittle hair OMIM:309400
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow OMIM:617412
Schimke Immunoosseous Dysplasia
Small for gestational age, Fine hair, Coarse hair, Astigmatism, Opacification of the corneal stroma OMIM:242900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Smith-Kingsmore Syndrome
Curly hair, Umbilical hernia, Large for gestational age OMIM:616638
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Inguinal hernia, Lipodystrophy, Thick hair, Abnormal subcutaneous fat tissue distribution, Coarse... ORPHA:357074
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Sparse hair, Curly hair, Synophrys, Sparse eyebrow OMIM:620075
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Synophrys, Long eyelashes, Obesity, Fine hair OMIM:620250
Mucopolysaccharidosis, Type Iiib
Synophrys, Coarse hair, Hirsutism OMIM:252920
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Cataract, Foot joint contracture, Sparse eyebrow, Fine hair, Sparse hair, Failur... ORPHA:444072
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Leopard Syndrome 2
Curly hair OMIM:611554
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair, Posterior Y-sutural cataract ORPHA:50814
Oculodentodigital Dysplasia
Dry hair, Cataract, Slow-growing hair, Fine hair, Microcornea, Joint contracture of the 5th finge... OMIM:164200
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the... ORPHA:3353
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... OMIM:190350
Scalp-Ear-Nipple Syndrome
Cataract, Sparse axillary hair, Sparse pubic hair, Developmental cataract, Anisocoria, Fine hair,... OMIM:181270
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Inguinal hernia, Large for gestational age, Loose anagen hair, Ast... OMIM:607721
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow OMIM:619244
Noonan Syndrome 7
Curly hair, Large for gestational age, Low posterior hairline OMIM:613706
Ablepharon Macrostomia Syndrome
Omphalocele, Absent eyebrow, Corneal opacity, Camptodactyly of finger, Abnormal hair pattern, Abs... ORPHA:920
Trichohepatoneurodevelopmental Syndrome
Curly hair, Synophrys, Coarse hair, Astigmatism, Long eyelashes, Hypoplastic nipples, Distal arth... OMIM:618268
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Developmental cataract, ... ORPHA:2108
Leopard Syndrome 3
Curly hair, Low posterior hairline OMIM:613707
S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Abnormality of hair texture ORPHA:88618
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Dry hair, Small for gestational age, Abnormal hair morpholog... OMIM:133540
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Synophrys, Fine hair OMIM:619428
Intellectual Disability, Buenos-Aires Type
Umbilical hernia, Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair ORPHA:3079
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Small for gestational age, Failure to thrive in infancy, Flexion contracture, Fine ... OMIM:618891
Cerebrofaciothoracic Dysplasia
Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Hernia, Thick eyebrow ORPHA:1394
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair, Failure to thrive OMIM:300986
Macrocephaly/Autism Syndrome
Coarse hair, Obesity, Large for gestational age OMIM:605309
Trisomy 20P
Inguinal hernia, Thick hair, Highly arched eyebrow, Camptodactyly of finger, Low anterior hairlin... ORPHA:261318
Craniolenticulosutural Dysplasia
Brittle hair, Punctate cataract, Coarse hair, Posterior Y-sutural cataract, Sparse hair OMIM:607812
Hallermann-Streiff Syndrome
Sparse scalp hair, Cataract, Sparse eyelashes, Small for gestational age, Sparse eyebrow, Fine ha... OMIM:234100
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair, Enamel hypoplasia, Astigmatism OMIM:619184
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
Craniofrontonasal Syndrome
Ridged nail, Curly hair, Split nail, Congenital diaphragmatic hernia, Widow's peak, Breast hypopl... OMIM:304110
Cerebellofaciodental Syndrome
Sparse eyebrow, Cataract, Fine hair OMIM:616202
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Failure to thrive in infancy, Abnormal eyelash morphology, Low p... ORPHA:1340
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Brittle hair, Nail dystrophy ORPHA:93947
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Small for gestational age, Fine hair, Sparse hair, Woolly hair, Failure... OMIM:222470
Naxos Disease
Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... OMIM:601214
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Mucopolysaccharidosis-Plus Syndrome
Synophrys, Flexion contracture, Low anterior hairline, Low posterior hairline, Coarse hair, Long ... OMIM:617303
Argininosuccinic Aciduria
Failure to thrive, Dry hair, Brittle hair, Trichorrhexis nodosa OMIM:207900
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Large for gestational age ORPHA:457485
Mucopolysaccharidosis, Type Vii
Corneal opacity, Flexion contracture, Hirsutism, Coarse hair, Umbilical hernia, Thick eyebrow OMIM:253220
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Highly arched eyebrow, Low posterior hairline, Camptodactyly, Thick eyebrow OMIM:617360
Ogden Syndrome
Inguinal hernia, Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:276432
2P15P16.1 Microdeletion Syndrome
Inguinal hernia, Camptodactyly of finger, Supernumerary nipple, Sparse eyebrow, Fine hair, Long e... ORPHA:261349
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... OMIM:305100
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Aplastic/hypoplastic to... ORPHA:1812
Hajdu-Cheney Syndrome
Inguinal hernia, Cataract, Abnormal fingernail morphology, Synophrys, Low anterior hairline, Gene... ORPHA:955
Galloway-Mowat Syndrome 9
Coarse hair, Hiatus hernia OMIM:619603
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Abnormal dental enamel morphology, Spar... ORPHA:1071
Eec Syndrome
Slow-growing hair, Abnormal dental enamel morphology, Keratitis, Sparse eyebrow, Corneal erosion,... ORPHA:1896
Acrofacial Dysostosis, Catania Type
Coarse hair, Inguinal hernia, Abnormal hair pattern ORPHA:1786
Cartilage-Hair Hypoplasia
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair OMIM:250250
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
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
Mucopolysaccharidosis Type 3
Inguinal hernia, Cataract, Corneal opacity, Thick hair, Synophrys, Flexion contracture, Coarse ha... ORPHA:581
Diamond-Blackfan Anemia 21
Synophrys, Widow's peak, Obesity, Coarse hair, Horizontal eyebrow OMIM:620072
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair OMIM:614091
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Dry hair, Cataract, Atypical scarring of sk... OMIM:216400
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Inguinal hernia, Small for gestational age, Uncombable ha... ORPHA:84064
Mucopolysaccharidosis, Type Iiid
Inguinal hernia, Synophrys, Achilles tendon contracture, Hirsutism, Elbow flexion contracture, Co... OMIM:252940
Mucolipidosis Ii Alpha/Beta
Inguinal hernia, Brittle hair, Sparse eyebrow, Opacification of the corneal stroma, Camptodactyly... OMIM:252500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Low posterior hairline, Sparse h... OMIM:115150
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair OMIM:613451
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Noonan Syndrome 14
Sparse hair, Curly hair, Sparse eyebrow, Low posterior hairline OMIM:619745
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Dyskeratosis Congenita, Autosomal Dominant 3
Premature graying of hair, Alopecia, Nail dysplasia, Fine hair OMIM:613990
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Neuroocular Syndrome
Cataract, Brittle hair, Highly arched eyebrow, Brushfield spots, Synophrys, Lens coloboma, Blue i... OMIM:619539
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Inguinal hernia, Failure to thrive, Low anterior hai... OMIM:601358
Weaver Syndrome
Deep-set nails, Inguinal hernia, Thin nail, Fine hair, Camptodactyly, Sparse hair, Umbilical hern... OMIM:277590
Genitopatellar Syndrome
Sparse scalp hair, Hip contracture, Knee flexion contracture, Fine hair, Arthrogryposis multiplex... ORPHA:85201
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Dry hair, Cataract, Cachexia, Band keratopathy, Developmenta... ORPHA:191
Orofaciodigital Syndrome Type 3
Abnormality of hair texture ORPHA:2752
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Cataract, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplas... ORPHA:444077
Cockayne Syndrome Type 3
Dry hair, Cataract, Flexion contracture, Microcornea, Premature graying of hair, Keratoconjunctiv... ORPHA:90324
Dubowitz Syndrome
Sparse scalp hair, Cataract, Abnormal fingernail morphology, Hypoplastic toenails, Low anterior h... ORPHA:235
Mucolipidosis Type Ii
Hip contracture, Dry hair, Inguinal hernia, White hair, Knee flexion contracture, Fine hair, Weig... ORPHA:576
Opitz-Kaveggia Syndrome
Inguinal hernia, Multiple joint contractures, Fine hair, Frontal upsweep of hair, Camptodactyly, ... OMIM:305450
Lateral Meningocele Syndrome
Keloids, Umbilical hernia, Coarse hair, Inguinal hernia OMIM:130720
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thick eyebrow, Fine hair OMIM:614800
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Inguinal hernia, White hair, Fine hair ORPHA:935
Noonan Syndrome 10
Sparse eyebrow, Curly hair, Prominent corneal nerve fibers OMIM:616564
Myhre Syndrome
Cataract, Small for gestational age, Obesity, Fine hair, Camptodactyly, Sparse hair, Thick eyebrow OMIM:139210
Marshall-Smith Syndrome
Omphalocele, Brittle hair, Highly arched eyebrow, Synophrys, Decreased body weight, Sparse hair, ... OMIM:602535
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Truncal obesity, Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:2637
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:612199
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Inguinal hernia, Cataract, Corneal opacity, Abnormal dental enamel morphology,... ORPHA:534
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Fine hair ORPHA:251028
Neurocardiofaciodigital Syndrome
Cataract, Small for gestational age, Sclerocornea, Sparse eyebrow, Sparse hair, Failure to thrive OMIM:619869
Focal Dermal Hypoplasia
Ridged nail, Omphalocele, Inguinal hernia, Brittle hair, Supernumerary nipple, Ectopia lentis, Co... OMIM:305600
Menkes Disease
Hypopigmentation of hair, Inguinal hernia, Atypical scarring of skin, Umbilical hernia, Hernia, S... ORPHA:565
Cranioectodermal Dysplasia 3
Sparse hair, Short nail, Broad nail, Fine hair OMIM:614099
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Inguinal hernia, Highly arched eyebrow, Large for gestational age, Fine hair, Umbilical hernia, H... OMIM:280000
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Sympathetic Ophthalmia
Alopecia, Cataract, Poliosis, Anterior chamber cells, Posterior synechiae of the anterior chamber... ORPHA:79098
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
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Failure to thrive, Absent nipple, Small f... OMIM:612289
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak ORPHA:1974
Lysinuric Protein Intolerance
Sparse hair, Truncal obesity, Failure to thrive, Fine hair OMIM:222700
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Curly hair, Low anterior hairline, Long eyelashes, Horizonta... OMIM:619950
Noonan Syndrome 2
Sparse eyebrow, Curly hair, Arthrogryposis multiplex congenita, Low posterior hairline OMIM:605275
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Low anterior hairline OMIM:618569
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair, Failure to thrive, Cataract OMIM:124000
Chime Syndrome
Sparse hair, Corneal opacity, Fine hair ORPHA:3474
Renpenning Syndrome 1
Brittle hair, Cataract, Camptodactyly, Sparse hair, Joint contracture of the hand, Sparse lateral... OMIM:309500
Melnick-Needles Syndrome
Omphalocele, Coarse hair, Failure to thrive, Frontal hirsutism OMIM:309350
Cranioectodermal Dysplasia 1
Inguinal hernia, Slow-growing hair, Short nail, Thin nail, Fine hair, Sparse hair, Enamel hypoplasia OMIM:218330
Adrenomyeloneuropathy
Frontal balding, Fine hair ORPHA:139399
Distal Deletion 12Q
Failure to thrive in infancy, Elbow flexion contracture, Obesity, Fine hair, Small nail ORPHA:96149
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Abnormal dental enamel morphology, Coarse hair, Sparse hair ORPHA:2750
Coffin-Siris Syndrome 1
Sparse scalp hair, Dry hair, Inguinal hernia, Congenital diaphragmatic hernia, Hypoplastic fifth ... OMIM:135900
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Inguinal hernia, Cataract, Small for gestational age, Hyperconvex ... OMIM:613406
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Scarring, Thick hair, Hiatus hernia, Atypical scarring of skin, ... ORPHA:198
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Orofaciodigital Syndrome I
Sparse hair, Alopecia, Dry hair, Enamel hypoplasia OMIM:311200
Costello Syndrome
Deep-set nails, Curly hair, Thin nail, Concave nail, Achilles tendon contracture, Sparse hair, Fa... OMIM:218040
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Hip contracture, Red... OMIM:619503
Zttk Syndrome
Curly hair, Sparse eyebrow, Flexion contracture, Failure to thrive, Broad eyebrow OMIM:617140
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormality of hair texture, Synophrys, Hypoplastic sweat glands, Localized hypoplasia of dental ... ORPHA:73223
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Hip contracture, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebro... OMIM:210710
Coffin-Lowry Syndrome
Inguinal hernia, Highly arched eyebrow, Hyperconvex fingernails, Coarse hair, Decreased body weig... OMIM:303600
Ogden Syndrome
Inguinal hernia, Sparse eyebrow, Fine hair, Long eyelashes, Minimal subcutaneous fat, Umbilical h... OMIM:300855
Noonan Syndrome
Abnormal hair quantity, Coarse hair, Low posterior hairline ORPHA:648
Occipital Horn Syndrome
Coarse hair, Pili torti, Hiatus hernia OMIM:304150
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy OMIM:614748
Woodhouse-Sakati Syndrome
Sparse hair, Alopecia, Fine hair OMIM:241080
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Contracture of the distal interphalangeal joint of the fingers, Coarse hair, Failure to thrive, I... ORPHA:83617
Chand Syndrome
Curly hair, Nail dysplasia ORPHA:1401
Vascular Ehlers-Danlos Syndrome
Keratoconus, Alopecia, Inguinal hernia, Abnormality of hair texture, Abnormal eyelash morphology,... ORPHA:286
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture ORPHA:667
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Curly hair, Cataract, Astigmatism, Hypoplastic nipples, Hypertrichosis ORPHA:480880
Noonan Syndrome 1
Woolly hair, Failure to thrive in infancy, Low posterior hairline OMIM:163950
Liver Disease, Severe Congenital
Dry hair, Inguinal hernia, Nail dystrophy, Umbilical hernia, Failure to thrive OMIM:619991
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Sparse eyebrow, Curly hair, Failure to thrive in infancy, Broad lateral eyebrow ORPHA:500150
Alström Syndrome
Cataract, Dorsocervical fat pad, Frontal balding, Posterior subcapsular cataract, Obesity, Fine h... ORPHA:64

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 Supt7l

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 Supt7l.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Supt7ltm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Supt7ltm1a(EUCOMM)Wtsi PMC6459510

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
Supt7ltm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Supt7ltm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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