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Gene: Pfn1 MGI:97549

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Gene Summary

Name:
profilin 1
Synonyms:
actin binding protein,  Pfn

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
abnormal cornea morphology Pfn1tm1a(EUCOMM)Wtsi HET Early adult 5.59×10-05
decreased total body fat amount Pfn1tm1a(EUCOMM)Wtsi HET Early adult 7.71×10-05
improved glucose tolerance Pfn1tm1a(EUCOMM)Wtsi HET Early adult 9.32×10-05
preweaning lethality, complete penetrance Pfn1tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal coat/hair pigmentation Pfn1tm1a(EUCOMM)Wtsi HET   Early adult 9.73×10-07
increased circulating magnesium level Pfn1tm1a(EUCOMM)Wtsi HET Early adult 6.93×10-06
corneal opacity Pfn1tm1a(EUCOMM)Wtsi HET Early adult 2.82×10-05
decreased bone mineral content Pfn1tm1a(EUCOMM)Wtsi HET Early adult 3.41×10-06
increased circulating amylase level Pfn1tm1a(EUCOMM)Wtsi HET Early adult 1.47×10-06
fused cornea and lens Pfn1tm1a(EUCOMM)Wtsi HET Early adult 4.87×10-06
decreased lean body mass Pfn1tm1a(EUCOMM)Wtsi HET Early adult 7.45×10-05
decreased body weight Pfn1tm1a(EUCOMM)Wtsi HET Early adult 1.92×10-09
decreased circulating fructosamine level Pfn1tm1a(EUCOMM)Wtsi HET Early adult 7.16×10-08

Download data as:  TSV  XLS

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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 50% (1 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 100% (2 of 2)
Gall bladder N/A heterozygote 50% (1 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 100% (2 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 50% (1 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 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 50% (1 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote Ambiguous
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.

X-ray

XRay Images Skull Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Forepaw

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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Legacy Phenotype Associated Images
Pfn1tm1a(EUCOMM)Wtsi
body, WT, Female, WTSI
Pfn1tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Pfn1tm1a(EUCOMM)Wtsi
forearm, WT, Female, WTSI
Pfn1tm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Pfn1tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI

View all 413 images

Pfn1tm1a(EUCOMM)Wtsi
right eye, narrow eye opening, HET, Female, WTSI
Pfn1tm1a(EUCOMM)Wtsi
Fused cornea and lens, HET, Female, WTSI
Pfn1tm1a(EUCOMM)Wtsi
corneal opacity, HET, Female, WTSI
Pfn1tm1a(EUCOMM)Wtsi
cornea/lens fusion, HET, Female, WTSI
Pfn1tm1a(EUCOMM)Wtsi
cornea/lens fusion, HET, Female, WTSI

View all 14 images

Pfn1tm1a(EUCOMM)Wtsi
decreased striatum area, HET, Male, WTSI
Pfn1tm1a(EUCOMM)Wtsi
third ventricle, enlarged third ventricle, HET, Male, WTSI
Pfn1tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Pfn1tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Pfn1tm1a(EUCOMM)Wtsi
decreased primary motor cortex size, primary motor cortex, HET, Male, WTSI

View all 12 images

Pfn1tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Pfn1tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Pfn1tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Pfn1tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Pfn1tm1a(EUCOMM)Wtsi
WT, Male, WTSI

View all 6 images

Pfn1tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Pfn1tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Pfn1tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Pfn1tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Pfn1tm1a(EUCOMM)Wtsi
abnormal epidermis stratum basale morphology, HET, Female, WTSI
Pfn1tm1a(EUCOMM)Wtsi
abnormal epidermis stratum basale morphology, HET, Female, WTSI
Pfn1tm1a(EUCOMM)Wtsi
abnormal epidermis stratum basale morphology, HET, Female, WTSI
Pfn1tm1a(EUCOMM)Wtsi
abnormal epidermis stratum basale morphology, HET, Female, WTSI
Pfn1tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Pfn1tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Pfn1tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Pfn1 mutations

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

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

The table below shows human diseases associated to Pfn1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Amyotrophic Lateral Sclerosis
ORPHA:803
Amyotrophic Lateral Sclerosis 18
OMIM:614808

The table below shows human diseases predicted to be associated to Pfn1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Winchester Syndrome
Corneal opacity, Hirsutism, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized ost... OMIM:277950
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Pyknoachondrogenesis
Stillbirth OMIM:265880
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Large for gestational age ORPHA:2432
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Tietz Syndrome
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... ORPHA:42665
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Mucous Membrane Pemphigoid
Atypical scarring of skin, Corneal opacity ORPHA:46486
Erythrokeratodermia Variabilis
Alopecia, Cataract, Corneal opacity, Hypermelanotic macule, Diabetes mellitus, Abnormal hair morp... ORPHA:317
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Dermoids Of Cornea
Corneal opacity OMIM:304730
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cataract, Cachexia, Hypokalemia, Hypocalcemia, Nail dysplasia, Hypomagnesemia, Nail dys... OMIM:175500
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Increased LDL cholesterol concentration, Fair hair, Developmental cataract OMIM:618808
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Osteomalacia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis OMIM:600740
Galactosialidosis
Corneal opacity ORPHA:351
Hereditary Fructose Intolerance
Cataract, Reactive hypoglycemia, Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Hypocalciuric Hypercalcemia, Familial, Type Ii
Multiple lipomas, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis OMIM:145981
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Woolly Hair
Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,... ORPHA:170
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... OMIM:601706
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Morquio Syndrome C
Corneal opacity OMIM:252300
Short Syndrome
Posterior embryotoxon, Alopecia, Corneal opacity, Diabetes mellitus, Abnormal dental enamel morph... ORPHA:3163
Mucolipidosis Type Iii
Craniofacial hyperostosis, Inguinal hernia, Corneal opacity, Reduced bone mineral density ORPHA:577
Gómez-López-Hernández Syndrome
Toenail dysplasia, Alopecia of scalp, Corneal opacity ORPHA:1532
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Gitelman Syndrome
Maternal diabetes, Insulin resistance, Hypermagnesemia, Glucose intolerance, Hypokalemia, Diabeti... ORPHA:358
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ... ORPHA:405
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o... OMIM:619947
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Corneal arcus, Cataract OMIM:618463
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Refractory Celiac Disease
Hypomagnesemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypop... ORPHA:398063
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Fa... OMIM:613845
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Reduced bone mineral density ORPHA:2370
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma ORPHA:1473
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Red hair, Failure to ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Red hair, Failure to ... ORPHA:71526
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Corneal opacity, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Spa... OMIM:602400
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Corneal opacity, Congenital diaphragmatic hernia, Osteolysis involving tarsal bones, ... OMIM:166300
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Hemochromatosis, Type 4
Diabetes mellitus, Cataract, Impaired glucose tolerance, Increased circulating ferritin concentra... OMIM:606069
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Spotty hypopigmentation, A... ORPHA:1867
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Low anterior hairl... OMIM:613153
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Cystinosis, Nephropathic
Hyponatremia, Hypopigmentation of hair, Diabetes mellitus, Failure to thrive in infancy, Hypomagn... OMIM:219800
Cystinosis
Corneal opacity, Rickets, Hypokalemia, Hypophosphatemia, Type I diabetes mellitus, Failure to thrive ORPHA:213
Sialidosis Type 2
Inguinal hernia, Corneal opacity, Flexion contracture, Osteoporosis, Umbilical hernia ORPHA:87876
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Olmsted Syndrome 1
Subungual hyperkeratosis, Corneal opacity, Flexion contracture, Nail dystrophy, Nail dysplasia, O... OMIM:614594
Brittle Cornea Syndrome 2
Keratoconus, Inguinal hernia, Flat cornea, Sclerocornea, Keratoglobus, Umbilical hernia, Decrease... OMIM:614170
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Flexion contracture, Corneal opacity, Developmental cataract OMIM:618815
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Kenny-Caffey Syndrome, Type 1
Decreased skull ossification, Calvarial osteosclerosis, Hypocalcemia, Hypomagnesemia OMIM:244460
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Ophthalmomandibulomelic Dysplasia
Megalocornea, Abnormality of bone mineral density, Corneal opacity, Camptodactyly of finger ORPHA:2741
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Hurler-Scheie Syndrome
Corneal opacity, Generalized hirsutism, Hernia ORPHA:93476
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Alpha-Mannosidosis
Craniofacial hyperostosis, Inguinal hernia, Cataract, Corneal opacity, Type II diabetes mellitus ORPHA:61
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Coloboma, Hypoplastic iris ... ORPHA:2334
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta, Astigmatism, Macular coloboma, Hypomagnesemia OMIM:248190
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Reduced bone mineral density, Hyperphosphatemia, Hypoca... ORPHA:428
Hypomagnesemia 2, Renal
Hypokalemia, Chondrocalcinosis, Hypomagnesemia OMIM:154020
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation ORPHA:177910
Primary Intestinal Lymphangiectasia
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, T... ORPHA:290
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Hypoalbuminem... ORPHA:37042
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Griscelli Syndrome Type 1
Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Iris hypopigmentation ORPHA:79476
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Albinism ORPHA:2786
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Cataract, Reduced bone mineral density, Abnormal cornea morphology, Hypophosph... ORPHA:2611
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia, Obesity OMIM:620195
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Blue irides, Obesity, Advanced ossification of carpal bones, Red hair, Fair hair OMIM:614613
Hypomagnesemia 3, Renal
Failure to thrive, Astigmatism, Hyperuricemia, Hypomagnesemia OMIM:248250
Colchicine Poisoning
Hyponatremia, Alopecia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalc... ORPHA:31824
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Al-Gazali Syndrome
Osteopenia, Corneal opacity, Sclerocornea, Failure to thrive, Wrist flexion contracture OMIM:609465
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea... ORPHA:1806
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... ORPHA:2457
Brittle Cornea Syndrome 1
Keratoconus, Atypical scarring of skin, Keratoglobus, Abnormal cornea morphology, Decreased corne... OMIM:229200
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... OMIM:619743
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Pearson Syndrome
Cataract, Small for gestational age, Diabetes mellitus, Hypophosphatemia, Corneal stromal edema, ... ORPHA:699
East Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Corneal opacity, Scarring, Craniosynostosis, Onychogryposis, Depigmentation/hyperpigmen... ORPHA:79396
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating biopterin concentration, Maturity-onset diabetes of the young, Hyperphenylal... ORPHA:1578
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... ORPHA:79102
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio... OMIM:601678
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Alopecia, Corneal opacity, Coloboma, Hypophosphatemic rickets, Hypopigmentation of th... OMIM:163200
Orthostatic Hypotension 1
Hypomagnesemia, Neonatal hypoglycemia, Increased blood urea nitrogen OMIM:223360
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse eyebrow, Widow... ORPHA:2399
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Corneal opacity, Osteoporosis ORPHA:2788
Rodrigues Blindness
Microcornea, Sparse hair, Sclerocornea, Fine hair OMIM:268320
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Poliosis, Abnormal eyelash morphology, ... ORPHA:3437
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Coloboma, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Oculomaxillofacial Dysostosis
Corneal opacity, Camptodactyly of finger, Abnormal eyelash morphology, Sparse or absent eyelashes... ORPHA:1794
Fish-Eye Disease
Decreased HDL cholesterol concentration, Corneal opacity ORPHA:79292
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation ORPHA:411515
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia, Failure to thrive, Chondrocalcinosis OMIM:263800
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Corneal opacity, Elevated circulating creatine kinase concentration, Small for gestational age, C... OMIM:301056
Sjogren-Larsson Syndrome
Enamel hypoplasia, Astigmatism, Flexion contracture, Opacification of the corneal epithelium OMIM:270200
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Opacification of the corneal stroma OMIM:271630
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism OMIM:152950
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Harel-Yoon Syndrome
Corneal opacity, Developmental cataract OMIM:617183
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity, Coarse metaphyseal trabecularization OMIM:618961
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Thick eyebrow OMIM:602562
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Lowry-Maclean Syndrome
Osteopenia, Inguinal hernia, Corneal opacity, Congenital diaphragmatic hernia, Craniosynostosis, ... ORPHA:2409
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Ataxia-Telangiectasia
Hypopigmentation of hair, Diabetes mellitus, Premature graying of hair, Type II diabetes mellitus... ORPHA:100
Fucosidosis
Lipoatrophy, Failure to thrive, Corneal opacity, Abnormality of the nail ORPHA:349
Methionine Malabsorption Syndrome
White hair, Blue irides, Positive ferric chloride test OMIM:250900
Bartsocas-Papas Syndrome
Corneal opacity, Alopecia totalis, Hypoplastic toenails, Popliteal pterygium, Sparse or absent ey... ORPHA:1234
Sanjad-Sakati Syndrome
Corneal opacity, Abnormal dental enamel morphology, Patchy osteosclerosis, Astigmatism, Hyperphos... ORPHA:2323
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Corneal neov... ORPHA:163934
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Generalized bone demineralization, Small for gestational age, Opacification of the corneal stroma OMIM:215250
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Low anterior hairline, Coarse hair, Astigmatism, Umbilical hernia, Coronal craniosy... ORPHA:2095
Scheie Syndrome
Corneal opacity OMIM:607016
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Vernal Keratoconjunctivitis
Scarring, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate keratitis, Cornea... ORPHA:70476
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Hip contracture, Peripheral opacification of the cornea, Thin bony cortex, Corneal op... OMIM:259600
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Bartter Syndrome Type 4
Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Increased circulating renin ... ORPHA:89938
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hypoch... OMIM:241200
Brittle Cornea Syndrome
Corneal dystrophy, Corneal erosion, Osteoporosis, Abnormality of hair pigmentation, Corneal scarr... ORPHA:90354
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... ORPHA:3214
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... ORPHA:999
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity, Craniosynostosis ORPHA:1064
Juvenile Sialidosis Type 2
Inguinal hernia, Cataract, Corneal opacity, Generalized hypertrichosis, Umbilical hernia ORPHA:93399
Classic Phenylketonuria
Hypopigmentation of hair, Cataract, Hypopigmentation of the skin, Hyperphenylalaninemia ORPHA:79254
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology, Corneal opacity, Congenital diaphragmatic hernia, Hypop... ORPHA:1647
Incontinentia Pigmenti
Alopecia, Cataract, Corneal opacity, Abnormal fingernail morphology, Supernumerary nipple, Abnorm... ORPHA:464
Griscelli Syndrome Type 2
Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop... ORPHA:79477
Zellweger Syndrome
Posterior embryotoxon, Cataract, Corneal opacity, Brushfield spots, Epiphyseal stippling, Failure... ORPHA:912
Neurotrophic Keratopathy
Diabetes mellitus, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosio... ORPHA:137596
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... OMIM:618156
Microphthalmia With Brain And Digit Anomalies
Cataract, Sclerocornea, Microcornea, Nail dysplasia, Chorioretinal coloboma, Iris coloboma ORPHA:139471
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Autosomal Recessive Cutis Laxa Type 2A
Inguinal hernia, Abnormal cornea morphology, Corneal opacity, Thick hair ORPHA:357058
Hurler-Scheie Syndrome
Inguinal hernia, Corneal opacity, Camptodactyly of finger, Contracture of the distal interphalang... OMIM:607015
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Keratitis, Corneal scarring, Nail dystrophy, Recurrent corneal erosions, Opaci... OMIM:256800
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Corneal opacity, Optic disc coloboma, Chorioretinal colo... OMIM:120200
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Sialidosis Type 1
Cataract, Corneal opacity, Hernia ORPHA:812
Congenital Sialidosis Type 2
Inguinal hernia, Cataract, Corneal opacity, Developmental cataract, Generalized hypertrichosis, U... ORPHA:93400
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:612780
Familial Dysautonomia
Hyponatremia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Osteolysis, Heterochro... ORPHA:1764
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Corneal opacity, Hernia, Developmental cataract OMIM:616603
Focal Dermal Hypoplasia
Omphalocele, Alopecia, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Conge... ORPHA:2092
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Coarse hair, Thick eyebrow ORPHA:585
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism ORPHA:2221
Microphthalmia, Isolated, With Coloboma 9
Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenesis, Iris coloboma OMIM:615145
Gm1 Gangliosidosis
Inguinal hernia, Corneal opacity, Camptodactyly of finger, Weight loss, Failure to thrive, Genera... ORPHA:354
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Craniosynostosis, Camptodactyly of toe, Obesity, Aniridia, Iris coloboma ORPHA:251038
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Encephalocraniocutaneous Lipomatosis
Linear hyperpigmentation, Alopecia, Sclerocornea, Hypoplasia of the iris, Lipoma, Limbal dermoid,... OMIM:613001
Alpha-Mannosidosis, Adult Form
Osteopenia, Cataract, Corneal opacity ORPHA:309288
Premature Aging Syndrome, Penttinen Type
Flexion contracture of finger, Corneal opacity, Lipoatrophy, Osteoporosis, Corneal stromal edema,... OMIM:601812
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Opacification of the corneal stroma OMIM:252605
Walker-Warburg Syndrome
Cataract, Corneal opacity, Microcornea, Abnormal circulating creatine kinase concentration, Iris ... ORPHA:899
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ... OMIM:221800
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of retinal pigmentation, Whit... ORPHA:79432
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Increased proinsulin:in... OMIM:106210
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Corneal opacity ORPHA:578
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
De Barsy Syndrome
Osteopenia, Inguinal hernia, Cataract, Corneal opacity, Lipodystrophy, Sparse hair, Umbilical her... ORPHA:2962
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Hypermelanotic macule, Small for gestational age, Hyperlipidemia, Multiple lenti... ORPHA:1830
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Hurler Syndrome
Inguinal hernia, Corneal opacity, Flexion contracture, Cranial hyperostosis, Hernia, Opacificatio... OMIM:607014
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Alopecia, Corneal opacity, Lipodystrophy, Abnormal eyelash morphology,... ORPHA:2396
Wagro Syndrome
Aniridia, Cataract, Corneal opacity, Obesity OMIM:612469
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Infantile Nephropathic Cystinosis
Rickets, Abnormal blood ion concentration, Corneal crystals, Pigmentary retinopathy, Abnormal cor... ORPHA:411629
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Autoimmune Polyendocrinopathy Type 1
Alopecia, Cataract, Abnormal fingernail morphology, Hypopigmented skin patches, Opacification of ... ORPHA:3453
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Corneal opacity, Inguinal hernia, Ocular albinism, Iris hypop... ORPHA:2719
Farber Disease
Corneal opacity, Flexion contracture, Osteoporosis, Abnormal conjunctiva morphology, Opacificatio... ORPHA:333
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Mucopolysaccharidosis Type 7
Umbilical hernia, Inguinal hernia, Corneal opacity, Epiphyseal stippling ORPHA:584
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Synophrys, Flexion contracture, Knee flexion contracture, Hypocalcemia, Thoracic hypertrichosis, ... OMIM:619503
Wilson Disease
Kayser-Fleischer ring, Failure to thrive, Increased body weight, Weight loss ORPHA:905
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Pigmentary retinopathy, Joint contracture of the hand, Opacification ... OMIM:214110
Mucopolysaccharidosis Type 4
Corneal opacity, Abnormal dental enamel morphology, Grayish enamel, Reduced bone mineral density,... ORPHA:582
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Hypoglycemic seizures, Obesity, Hyperbilirubinemia OMIM:609734
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Iris hypopigmentation ORPHA:284160
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... OMIM:241150
Mucopolysaccharidosis, Type Ivb
Inguinal hernia, Corneal opacity, Grayish enamel, Osteoporosis, Opacification of the corneal stroma OMIM:253010
Tyrosinemia Type 2
Corneal opacity, Abnormality of the nail ORPHA:28378
Ablepharon Macrostomia Syndrome
Omphalocele, Absent eyebrow, Corneal opacity, Camptodactyly of finger, Abnormal hair pattern, Abs... ORPHA:920
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Corneal opacity, Coloboma, Ectopia pupillae, Lens subluxatio... ORPHA:85167
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Failure to thrive ORPHA:70472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Buphthalmos, Colob... OMIM:236670
Mucoepithelial Dysplasia, Hereditary
Alopecia, Cataract, Keratoconjunctivitis, Coarse hair, Nail dystrophy, Opacification of the corne... OMIM:158310
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Failure to thrive, Corneal opacity, Synophrys, Thin eyebrow, Small nail, Cafe-au-lait spot ORPHA:364577
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Craniosynostosis, Increased serum beta-hexosaminidase, Hyper... OMIM:252600
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Umbilical hernia, Frontal upsweep of hair, Axenfeld anomaly, Opacificatio... OMIM:612582
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis ORPHA:411777
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation ORPHA:411511
Gomez-Lopez-Hernandez Syndrome
Craniosynostosis, Alopecia, Opacification of the corneal stroma OMIM:601853
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Cataract, Partial albinism, Abnormal dental enamel morphology, Ocular a... ORPHA:79430
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Opacification ... ORPHA:425
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Inguinal hernia, Cataract, Corneal opacity, Thick hair, Synophrys, Fle... ORPHA:581
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Schimke Immunoosseous Dysplasia
Osteopenia, Small for gestational age, Hypermelanotic macule, Fine hair, Coarse hair, Astigmatism... OMIM:242900
Atypical Werner Syndrome
Sclerosis of hand bone, Abnormal hair whorl, Fasting hyperinsulinemia, Reduced bone mineral densi... ORPHA:79474
Mucopolysaccharidosis, Type Vii
Corneal opacity, Flexion contracture, Hirsutism, Coarse hair, Umbilical hernia, Thick eyebrow OMIM:253220
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long eyelashes OMIM:615877
Tbck-Related Intellectual Disability Syndrome
Corneal opacity, Synophrys, Hirsutism, Osteoporosis, Abnormal circulating lipid concentration, Th... ORPHA:488632
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Sparse scalp hair, Inguinal hernia, Cataract, Corneal opacity, Hypoammonemia, Abnor... ORPHA:534
Axenfeld-Rieger Syndrome, Type 2
Inguinal hernia, Microcornea, Opacification of the corneal stroma, Umbilical hernia, Anterior cha... OMIM:601499
Pseudo-Torch Syndrome 1
Umbilical hernia, Failure to thrive, Cataract, Opacification of the corneal stroma OMIM:251290
Scheie Syndrome
Corneal opacity ORPHA:93474
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti... ORPHA:238468
Mosaic Trisomy 8
Corneal opacity, Camptodactyly of finger, Hypopigmented skin patches, Arthrogryposis multiplex co... ORPHA:96061
Alpha-Mannosidosis, Infantile Form
Osteopenia, Cataract, Corneal opacity, Highly arched eyebrow, Craniosynostosis, Cranial hyperosto... ORPHA:309282
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Glyc... ORPHA:411634
Mucopolysaccharidosis Type 1
Inguinal hernia, Corneal opacity, Low anterior hairline, Hernia, Generalized hirsutism ORPHA:579
Mucopolysaccharidosis Type 6
Hernia, Failure to thrive, Opacification of the corneal stroma ORPHA:583
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Hyperpigmented streaks, Sclerocornea OMIM:300952
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Absent eyebrow, Alopecia, Thin fingernail, Corneal opacity, Abnormal dental enamel m... ORPHA:2273
Hurler Syndrome
Corneal opacity, Camptodactyly of finger, Abnormality of skin pigmentation, Hernia, Generalized h... ORPHA:93473
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Rickets, Corneal crystals OMIM:219900
Congenital Disorder Of Deglycosylation 1
Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Osteoporosis, Decreased bo... OMIM:615273
Galloway-Mowat Syndrome 1
Cataract, Small for gestational age, Hiatus hernia, Hypoplasia of the iris, Hypoalbuminemia, Opac... OMIM:251300
Prader-Willi Syndrome
Osteopenia, Hypopigmentation of hair, Failure to thrive in infancy, Hyperinsulinemia, Obesity, Os... OMIM:176270
Carpenter Syndrome 1
Omphalocele, Sagittal craniosynostosis, Obesity, Microcornea, Opacification of the corneal stroma... OMIM:201000
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Sparse scalp hair, Inguinal hernia, Multiple joint contractures, Corneal opacity, Sag... ORPHA:536471
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Osteoporosis, Kays... OMIM:277900
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Osteoporosis,... ORPHA:98754
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla... OMIM:611584
Pelvis-Shoulder Dysplasia
Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Tangier Disease
Hypertriglyceridemia, Corneal opacity, Nail dystrophy, Hypocholesterolemia ORPHA:31150
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Dry hair, Small for gestational age, Abnormal hair morpholog... OMIM:133540
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Osteoporosis,... ORPHA:98793
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin, Osteopetrosis OMIM:618541
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Osteoporosis,... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Osteoporosis,... ORPHA:177901
Histiocytoid Cardiomyopathy
Corneal opacity, Hypoglycemia, Megalocornea, Failure to thrive, Congenital aphakia ORPHA:137675
Neurofibromatosis Type 1
Abnormal hair quantity, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generaliz... ORPHA:636
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation ORPHA:98794
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Hypopigmentation of hair, Osteoporosis, Obesity, Abdominal obesity, Type II diabetes ... ORPHA:398079
Fryns Syndrome
Omphalocele, Corneal opacity, Congenital diaphragmatic hernia, Hypoplastic fingernail ORPHA:2059
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad eyebrow, Corneal opacity, Corneal dystrophy, Sparse eyebrow, Synophrys, Low anterior hairli... ORPHA:495875
Dyggve-Melchior-Clausen Disease
Failure to thrive, Corneal opacity ORPHA:239
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Corneal opacity, Alopecia totalis, Hypermelanotic macule, Insulin resistance, Los... ORPHA:740
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Cachexia... ORPHA:649
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Flexion contracture of finger, Small for gestational age, Corneal opacity, Ankle flexion contract... ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Small for gestational age, Corneal opacity, Astigmatism, Failure to ... ORPHA:464306
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Mucolipidosis Ii Alpha/Beta
Osteopenia, Inguinal hernia, Brittle hair, Increased serum beta-hexosaminidase, Craniosynostosis,... OMIM:252500
Neurocardiofaciodigital Syndrome
Cataract, Small for gestational age, Sclerocornea, Sparse eyebrow, Sparse hair, Failure to thrive OMIM:619869
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... ORPHA:3322
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Small for gestational age, Brushfield spots, Conjugated hyperbilirubinemia, Elevated ci... OMIM:614866
Moebius Syndrome
Multiple cafe-au-lait spots, Arthrogryposis multiplex congenita, Breast aplasia, Corneal opacity ORPHA:570
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Failure to thrive, Corneal opacity, Abnormal dental enamel m... ORPHA:2556
Chime Syndrome
Corneal opacity, Osteolysis, Fine hair, Retinal coloboma, Sparse hair ORPHA:3474
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule, Coronal craniosynost... ORPHA:53271
Gaucher Disease
Osteopenia, Increased bone mineral density, Corneal opacity, Elevated circulating C-reactive prot... ORPHA:355
3Mc Syndrome 3
Corneal opacity, Highly arched eyebrow OMIM:248340
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Flexion contracture of finger, Hypertriglyceridemia, Imp... OMIM:256040
Xeroderma Pigmentosum
Conjunctival telangiectasia, Craniofacial hyperostosis, Alopecia, Cataract, Hypermelanotic macule... ORPHA:910
Mosaic Trisomy 9
Corneal opacity, Camptodactyly of finger, Small nail ORPHA:99776
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Hyperlipidemia, Reduce... ORPHA:324
Stromme Syndrome
Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma OMIM:243605
Vici Syndrome
Hypopigmentation of hair, Cataract, Elevated circulating creatine kinase concentration, Albinism,... OMIM:242840
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Hypopigmentation of hair, Flexion contracture, Osteoporosis, Increased body weight, A... ORPHA:398069
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy, Cataract, Sclerocornea, Camptodactyly OMIM:614230
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity, Osteolysis, Abnormality of skin pigmentation, Multiple cafe-au-lait spots ORPHA:1052
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Brushfield spots, Pigmentary retinopathy, Epiphyseal stippling, Opacification of the co... OMIM:214100
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Osteopenia, Cataract, Corneal opacity, Hy... ORPHA:3455
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Mucopolysaccharidosis, Type Vi
Inguinal hernia, Corneal opacity, Flexion contracture, Umbilical hernia, Hirsutism OMIM:253200
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Failure to thrive, Corneal opacity, Synophrys, Thin eyebrow, Small nail, Cafe-au-lait spot OMIM:608670
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Abnormal pupil morphology, Hypopigmented ... ORPHA:233
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria, Developmental cat... OMIM:175780
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, Sclerocornea, Congenital diaphragmatic hernia, High anterior hairline, Ost... ORPHA:280
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Koolen-De Vries Syndrome
Hypopigmentation of hair, Cataract, Abnormal dental enamel morphology, Abnormality of hair texture ORPHA:96169
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Small for gestational age, Inguinal hernia, Abnormality o... ORPHA:84064
Kindler Epidermolysis Bullosa
Corneal opacity, Abnormal dental enamel morphology, Camptodactyly of finger, Flexion contracture,... ORPHA:2908
Proboscis Lateralis
Abnormal eyebrow morphology, Cataract, Corneal opacity, Abnormal location of the eyebrow, Optic d... ORPHA:141099
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Dry hair, Cataract, Retinal pigment epithel... OMIM:216400
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Congenital diaphragmatic hernia, Pigmentary retinopathy, Peters anomaly, ... OMIM:309801
Mucopolysaccharidosis, Type Iva
Inguinal hernia, Osteoporosis, Opacification of the corneal stroma, Grayish enamel OMIM:253000
Williams Syndrome
Osteopenia, Elevated circulating creatine kinase concentration, Hypoplastic toenails, Megalocorne... ORPHA:904
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... OMIM:214500
Chédiak-Higashi Syndrome
Hyponatremia, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Hypertriglycerid... ORPHA:167
Ocular Cystinosis
Corneal crystals ORPHA:411641
Bartsocas-Papas Syndrome 1
Omphalocele, Absent eyebrow, Alopecia, Sparse scalp hair, Inguinal hernia, Alopecia totalis, Abse... OMIM:263650
Lathosterolosis
Microcornea, Failure to thrive, Cataract, Opacification of the corneal stroma ORPHA:46059
Larsen Syndrome
Multiple carpal ossification centers, Corneal opacity, Short nail OMIM:150250
Prader-Willi Syndrome
Osteopenia, Hypopigmentation of hair, Diabetes mellitus, Osteoporosis, Abdominal obesity, Failure... ORPHA:739
Osteogenesis Imperfecta
Osteopenia, Inguinal hernia, Small for gestational age, Corneal opacity, Abnormal dental enamel m... ORPHA:666
Stuve-Wiedemann Syndrome 1
Elbow flexion contracture, Osteoporosis, Knee flexion contracture, Blotching pigmentation of the ... OMIM:601559
Van Den Ende-Gupta Syndrome
Abnormal eyebrow morphology, Sclerocornea, Craniosynostosis, Elbow flexion contracture, Knee flex... OMIM:600920
Mosaic Trisomy 1
Omphalocele, Hypoplastic thumbnail, Congenital diaphragmatic hernia, Camptodactyly of finger, Elb... ORPHA:1692
Oculoectodermal Syndrome
Supernumerary nipple, Hyperpigmented streaks, Microcornea, Astigmatism, Opacification of the corn... OMIM:600268
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Mucopolysaccharidosis Type 2
Abnormality of retinal pigmentation, Inguinal hernia, Corneal opacity, Abnormal epiphyseal ossifi... ORPHA:580
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... ORPHA:163746
Menkes Disease
Hypopigmentation of hair, Inguinal hernia, Hypoglycemia, Osteoporosis, Atypical scarring of skin,... ORPHA:565
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Hypopigmented skin patches, Keratoconjunctivitis, Nail dystrophy, Opacif... ORPHA:2907
Autosomal Dominant Cutis Laxa
Osteopenia, Inguinal hernia, Corneal opacity, Developmental cataract, Hernia ORPHA:90348
Lathosterolosis
Cataract, Osteoporosis, Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Opaci... OMIM:607330
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Cataract, Abnormal dental enamel morphology, Sclerocornea, Congenital d... ORPHA:818
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Obesity, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation... ORPHA:177907
Mucopolysaccharidosis Type 2, Severe Form
Abnormality of retinal pigmentation, Inguinal hernia, Corneal opacity, Camptodactyly of finger, F... ORPHA:217085
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma ORPHA:42775
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormality of retinal pigmentation, Inguinal hernia, Corneal opacity, Camptodactyly of finger, F... ORPHA:217093
Limb Body Wall Complex
Ventral hernia, Corneal opacity, Congenital diaphragmatic hernia, Lens subluxation, Iris coloboma ORPHA:2369
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Degcags Syndrome
Osteopenia, Abnormal eyebrow morphology, Hypopigmentation of hair, Small for gestational age, Cra... OMIM:619488
Microphthalmia, Syndromic 3
Coloboma, Cataract, Sclerocornea OMIM:206900
Yunis-Varon Syndrome
Sparse scalp hair, Cataract, Sparse eyelashes, Absent sternal ossification, Sclerocornea, Sparse ... ORPHA:3472
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Inguinal hern... OMIM:308205
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity, Cachexia ORPHA:2072
Peters Plus Syndrome
Inguinal hernia, Cataract, Corneal opacity, Microcornea, Peters anomaly, Umbilical hernia, Iris c... ORPHA:709
Fryns Syndrome
Omphalocele, Large for gestational age, Joint contracture of the hand, Aplasia of the left hemidi... OMIM:229850
Fraser Syndrome 1
Absent eyebrow, Corneal opacity, Absent eyelashes, Extension of hair growth on temples to lateral... OMIM:219000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Coloboma, Opacificatio... OMIM:253280
Roberts-Sc Phocomelia Syndrome
Cataract, Corneal opacity, Ankle flexion contracture, Craniosynostosis, Elbow flexion contracture... OMIM:268300
Fanconi Anemia, Complementation Group E
Cryptorchidism, Prolonged G2 phase of cell cycle OMIM:600901
Meckel Syndrome
Microcornea, Aplasia/Hypoplasia of the iris, Cataract, Sclerocornea ORPHA:564
Digeorge Syndrome
Inguinal hernia, Femoral hernia, Sclerocornea, Obesity, Hypocalcemia, Umbilical hernia, Posterior... OMIM:188400
Fanconi Anemia, Complementation Group A
Cryptorchidism, Prolonged G2 phase of cell cycle OMIM:227650
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Fanconi Anemia, Complementation Group C
Cryptorchidism, Prolonged G2 phase of cell cycle OMIM:227645
Yunis-Varon Syndrome
Sparse scalp hair, Cataract, Absent nipple, Sparse eyelashes, Sclerocornea, Small for gestational... OMIM:216340
Microphthalmia, Syndromic 6
Sclerocornea, Microcornea, Coloboma, Lambdoidal craniosynostosis, Failure to thrive OMIM:607932
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak ORPHA:1974
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Prolonged G2 phase of cell cycle OMIM:227646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Elevated circulating creatine kinase concentration, Opacification of the corneal stroma OMIM:615287
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Amyotrophic Lateral Sclerosis 18
OMIM:614808
Amyotrophic Lateral Sclerosis
ORPHA:803

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 Pfn1

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 Pfn1.

There are 5 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) Pfn1tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Pfn1tm1a(EUCOMM)Wtsi PMC6459510
Profilin 1-mediated cytoskeletal rearrangements regulate integrin function in mouse platelets. Blood advances (May 2018) Pfn1tm1a(EUCOMM)Wtsi PMC5941999
Megakaryocyte-specific Profilin1-deficiency alters microtubule stability and causes a Wiskott-Aldrich syndrome-like platelet defect. Nature communications (September 2014) Pfn1tm1a(EUCOMM)Wtsi 25187265
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen. Nature communications (April 2014) Pfn1tm1a(EUCOMM)Wtsi PMC3996542

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
Pfn1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pfn1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pfn1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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