Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1
Synonyms:
Pcbd,  Dcoh

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pcbd1 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 Pcbd1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperphenylalaninemia, Bh4-Deficient, D
Elevated urinary 7-biopterin level OMIM:264070
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Maturity-onset diabetes of the young ORPHA:1578

The table below shows human diseases predicted to be associated to Pcbd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Tietz Syndrome
Hypopigmentation of the skin, Abnormal anterior chamber morphology, White eyebrow, Abnormality of... ORPHA:42665
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Hype... ORPHA:241
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Ketonuria OMIM:616095
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... OMIM:617294
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Generalized aminoaciduria, Hyperinsulinemia, Hypoglycemia OMIM:606528
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypoplasia of the fovea, Hypopigmentation of hair, Hypopigmentatio... OMIM:619165
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Ketonuria, Glycosuria OMIM:618857
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Abnormality of skin pigmentation OMIM:300719
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Generalized hyperpigmentation ORPHA:2253
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypoplasia of the fovea, Blue irides... OMIM:203200
Tietz Albinism-Deafness Syndrome
Heterochromia iridis, White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation OMIM:103500
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Hyperinsulin... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Hyperinsulin... ORPHA:71526
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Ketonuria, Glycosuria ORPHA:2089
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Reactive hypogl... ORPHA:35878
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Fair hair, Generalized hypopigmentation OMIM:113750
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, White forelock, Numerous pigmented freckles, Iris coloboma, Patchy hypo- and hyperpi... OMIM:601706
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Autism, Susceptibility To, 3
Increased serum serotonin, Ketonuria OMIM:608049
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot... ORPHA:79397
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia OMIM:620195
Homocarnosinosis
Carnosinuria, Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma OMIM:604219
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Phenylketonuria
Cataract, Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid in... OMIM:261600
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Gemignani Syndrome
Hypoplasia of penis, Delayed puberty, Hypopigmented skin patches ORPHA:2074
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Dystrophic toenail, Abnormal fingernail morphology, Ridged nail, Ab... ORPHA:89838
Microphthalmia/Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Dibasic Amino Aciduria I
Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria OMIM:222690
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Hypopigme... ORPHA:33445
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
3-hydroxyisovaleric aciduria, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Hypoglyc... OMIM:210200
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Elevated urinary 3-hydr... OMIM:615751
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Hyperprolinemia, Type Ii
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... OMIM:239510
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Hypoglycemia, Renal steatosis, Fasting hypoglycemia, Impaired gluconeogenesis OMIM:261680
Albinism, Oculocutaneous, Type Iv
Albinism, Macular hypoplasia, Hypopigmentation of hair, Blue irides OMIM:606574
Microphthalmia/Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Cataract, Abnormal fingernail morphology ORPHA:2278
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria, Microphthalmia OMIM:619053
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... ORPHA:998
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma, Microphthalmia OMIM:120433
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Alopecia of ... ORPHA:69125
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased urine alpha-ketoglutarate concentration, Ketonuria, Hypoglycemia, Dicarboxylic aciduria... OMIM:619355
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Alopecia, Ketonuria, Organic aciduria, Hypoglycemia OMIM:210210
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Fasting hypoglycemia, Nephrolithiasis OMIM:222730
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobuli... OMIM:227810
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Long penis, Insulin-resistant diabetes mellitus, ... OMIM:262190
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Ketonuria, Increased level of hippuric acid in urin... OMIM:246450
Woolly Hair
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... ORPHA:170
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Dicarboxylic aciduria OMIM:605911
Saccharopinuria
Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Citrullinuria OMIM:268700
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Phenylketonuria
Phenylalaninuria, Hypopigmentation of the skin ORPHA:716
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Nephrolithiasis, Generalized hirsutism,... ORPHA:1816
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Excessive insul... ORPHA:324575
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria OMIM:251120
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria, Abnormal hair morphology OMIM:242550
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cataract, Elevated urine acetoacetic acid level, Alpha-aminoadipic aciduria, 3-Methylglutaconic a... OMIM:620089
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme... OMIM:145250
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Glutaric Acidemia Type 3
Glutaric aciduria, Ketonuria ORPHA:35706
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria OMIM:619813
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Abno... ORPHA:895
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hyperpigmentation, Nail dystrophy, Hypomelanotic macule, Mixed hypo- and hyperpigmentation... ORPHA:79399
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Corneal opacity ORPHA:2432
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Anophthalmia, Microphthalmia OMIM:616428
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Ketonuria, Renal tubular acidosis, Dicarboxylic aciduria OMIM:255120
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Vogt-Koyanagi-Harada Disease
Cataract, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vit... ORPHA:3437
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria ORPHA:42062
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Low anterior hairline, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Cataract 47
Cataract, Microcornea, Glycosuria OMIM:612018
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Cataract, Microcornea, Microphthalmia ORPHA:2528
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe... ORPHA:1067
Richards-Rundle Syndrome
Ketonuria, Hypergonadotropic hypogonadism ORPHA:1399
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypogonadotropic hypogonadism, Hypopigmentation of hair, Hypopigmentation ... ORPHA:177910
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria, Small nail OMIM:614520
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Ketonuria, Hypoglycemia OMIM:615453
Glutaric Acidemia I
Glutaric aciduria, Ketonuria, Hypoglycemia OMIM:231670
Foveal Hypoplasia 2
Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia OMIM:609218
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Hyperinsulinemia, Type II diabetes mellitus, Abnormality of retinal pigmentation, Hyper... ORPHA:3085
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Nanophthalmos
Abnormality of retinal pigmentation, Microphthalmia ORPHA:35612
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Hematuria, Posterior embryotoxon, Corneal opacity, Microphthalmia, Iris coloboma ORPHA:1473
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Cataract 42
Cataract, Developmental cataract OMIM:115900
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Griscelli Syndrome Type 1
Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair ORPHA:79476
Mody
Abnormal circulating insulin concentration, Nephropathy, Glycosuria, Insulin-resistant diabetes m... ORPHA:552
Methionine Malabsorption Syndrome
Aminoaciduria, Blue irides, White hair OMIM:250900
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Autoimmune Polyendocrinopathy Type 2
Type I diabetes mellitus, Alopecia, Graves disease, Hypopigmented skin patches, Hypogonadism, Abn... ORPHA:3143
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail... ORPHA:2251
Stimmler Syndrome
Aminoaciduria, Type II diabetes mellitus ORPHA:3199
Galactokinase Deficiency
Cataract, Nuclear cataract, Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in urin... ORPHA:79237
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hypopigmentation of the skin, Keratitis, Hyperpigmentation of the ... ORPHA:90342
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Microphthalmia/Coloboma 7
Iris coloboma, Microphthalmia OMIM:614497
Microphthalmia/Coloboma 5
Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypoplasia of the fovea, White eyebr... ORPHA:352731
Erythrokeratodermia Variabilis
Cataract, Alopecia, Irregular hyperpigmentation, Abnormal hair morphology, Generalized hirsutism,... ORPHA:317
Bardet-Biedl Syndrome 18
Cataract, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Microphthalmia OMIM:251270
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria OMIM:612718
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Mandibuloacral Dysplasia
Insulin resistance, Alopecia, Abnormally large globe, Insulin-resistant diabetes mellitus, Hypopl... ORPHA:2457
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio... OMIM:269400
Autoimmune Polyendocrinopathy Type 1
Cataract, Alopecia, Abnormal circulating calcium-phosphate regulating hormone concentration, Incr... ORPHA:3453
Methylmalonic Aciduria, Cblb Type
Ketonuria, Methylmalonic aciduria, Hypoglycemia OMIM:251110
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Spotty hyperpigmentation, Low anterior hairline, Absent eyelashes, Spotty... ORPHA:79133
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Myoglobinuria, Hypothyroidism, Ketonuria, 3-Methylglutaconic aciduria OMIM:251900
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Moderate albuminuria, Ketonuria, Glycosuria, Hyperg... ORPHA:99885
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Hypoglycemia, Premature thelarche, Hypothyroidism, Myoglobinuria, Premature pubarche OMIM:616878
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o... OMIM:604229
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circu... OMIM:615363
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxyisobutyric acid level, Cataract, Elevated urinary 3-hydroxybutyric acid... OMIM:614105
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... ORPHA:280356
Methylmalonic Aciduria, Cbla Type
Elevated urine 3-hydroxypropionic acid level, Ketonuria, Methylmalonic aciduria, Elevated urine 2... OMIM:251100
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Hypoplasia of the fovea, Fr... ORPHA:79431
Monilethrix
Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hai... ORPHA:573
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Nephritis, Alopecia, Glycosuria, Insulin-resistan... ORPHA:2298
Beta-Ketothiolase Deficiency
Hyperglycemia, Ketonuria, Hypoglycemia ORPHA:134
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism OMIM:300700
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... ORPHA:2334
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Fine hair, Abnormal fingernail morphology, Keratoconjunctivitis sicca, Abn... ORPHA:1806
Hemochromatosis, Type 4
Cataract, Glucose intolerance, Hyperpigmentation of the skin, Diabetes mellitus, Impaired glucose... OMIM:606069
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, 3-Methylglutaconic aciduria, Hypoglycemia ORPHA:67048
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Lacticaciduria OMIM:619167
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Compensated hypothyroidism, Ketonuria, Hypoglycemia ORPHA:480864
Alopecia Totalis
Type I diabetes mellitus, Alopecia totalis, Vitiligo, Alopecia of scalp, Onycholysis, Nail pits, ... ORPHA:700
Hawkinsinuria
Fine hair, Hypothyroidism, 4-Hydroxyphenylpyruvic aciduria, Sparse hair, 4-hydroxyphenylacetic ac... ORPHA:2118
Microphthalmia, Isolated 5
Cataract, Bone spicule pigmentation of the retina, Microphthalmia OMIM:611040
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Clouston Syndrome
Cataract, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Nail dystrophy, Spar... OMIM:129500
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Anonychia With Flexural Pigmentation
Anonychia, Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Peters anomaly, Ocular anterior segment dysgenesis, Microphthalmia OMIM:610023
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Elevated urinary dihydrothymine level, Microphthalmia OMIM:274270
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Hydroxykynureninuria
Elevated urinary 3-hydroxykynurenine level, Elevated urinary xanthurenic acid level OMIM:236800
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hypopigmentation of the skin, Diabetes mellitus OMIM:615980
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Cofs Syndrome
Hypogonadism, Cataract, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1466
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali... ORPHA:417
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Nonketotic hypoglycemia, Ketonuria, Recurrent hypoglycemia ORPHA:20
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Mottled pigmentation, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsuline... OMIM:608612
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Protei... ORPHA:263455
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Long penis, Hypertrichosis, Hyperglycemia, Hyperi... OMIM:246200
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Excessive... ORPHA:276556
Galactose Epimerase Deficiency
Aminoaciduria, Cataract ORPHA:79238
Waardenburg Syndrome, Type 3
Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Heteroch... OMIM:148820
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Woolly Hair Nevus
Precocious puberty, Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Hetero... ORPHA:79414
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... OMIM:203300
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Absent skin pigmentation, Blue... OMIM:203100
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Mic... OMIM:610256
Cornea Plana 2, Autosomal Recessive
Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic... OMIM:217300
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Microphthalmia ORPHA:1617
Classic Phenylketonuria
Cataract, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pigmentary retinopathy, Ketonuria, Methylmalonic aciduria, Hypoglycemia, Renal insufficiency, Glo... ORPHA:79282
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Homocystinuria, Hypopigmentation of the skin, Ectopia lentis, Brittle hair, Lens subluxation, Met... OMIM:236200
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hypopigmentation of the skin, Fair hair OMIM:269920
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Microphthalmia OMIM:616171
Congenital Rubella Syndrome
Cataract, Type I diabetes mellitus, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmen... ORPHA:290
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Hyperpigmentation of the skin, Spotty hyperpigmentatio... ORPHA:158681
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Hypoglycemia, Hypogonadotropic hypogonadism, Microphthalmia ORPHA:48431
Porphyria Cutanea Tarda
Hypopigmentation of the skin, Hypertrichosis, Corneal scarring, Increased urinary porphobilinogen... ORPHA:101330
Microphthalmia, Syndromic 16
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
Fanconi Anemia, Complementation Group G
Multiple cafe-au-lait spots, Microphthalmia OMIM:614082
Hereditary Bullous Dystrophy, Macular Type
Cataract, Alopecia, Atrichia, Nail dystrophy, Spotty hypopigmentation, Hyperpigmentation of the s... ORPHA:1867
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Microphthalmia, Hypospadias ORPHA:141333
Microphthalmia, Syndromic 13
Microcornea, Iris coloboma, Microphthalmia OMIM:300915
Perlman Syndrome
Hyperinsulinemia, Hypoplasia of penis, Nephroblastoma ORPHA:2849
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Hypopigmented skin patches, Sparse lateral eyebrow, Abnormality of the upp... ORPHA:1807
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia ORPHA:324416
Adams-Oliver Syndrome 4
Toenail dysplasia, Hypoplastic toenails, Microphthalmia OMIM:615297
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Generalized hypopigmentation, Microphthalmia, Iris transillumination defect OMIM:617306
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Hyperpigmentation of the skin, Mu... ORPHA:3214
Fanconi Anemia, Complementation Group J
Multiple cafe-au-lait spots, Microphthalmia OMIM:609054
Warburg Micro Syndrome 1
Microcornea, Facial hypertrichosis, Hypertrichosis, Developmental cataract, Microphthalmia OMIM:600118
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Generalized hirsutism ORPHA:363400
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Microphthalmia, Abnormal localization of kidney, Iris c... ORPHA:195
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Cataract, Decreased pineal volume, Microphthalmia, Nephrotic ... OMIM:301108
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia ORPHA:209956
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Nephrocalcinosis, Long penis,... ORPHA:769
Cerebrooculofacioskeletal Syndrome 2
Cataract, Developmental cataract, Microphthalmia, Micropenis, Sparse hair OMIM:610756
Odontotrichoungual-Digital-Palmar Syndrome
Abnormality of hair texture, Nail dysplasia, Hypopigmentation of the skin, Nail dystrophy OMIM:601957
Nanophthalmos 4
Microphthalmia OMIM:615972
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Generalized hyperpigme... ORPHA:79086
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Small nail, Trichorrhexis nodosa, Brittle hair, Concave nail, Nail dystrophy, Sparse... OMIM:234050
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Rodrigues Blindness
Microcornea, Fine hair, Microphthalmia, Sclerocornea, Sparse hair OMIM:268320
Leber Congenital Amaurosis 1
Hyperthreoninuria, Keratoconus, Pigmentary retinopathy, Cataract OMIM:204000
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Hypopigmentation of hair, Reduced renal corticomedullary differenti... OMIM:618541
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Maternal Uniparental Disomy Of Chromosome X
Low posterior hairline, Hypopigmentation of the skin, Primary gonadal insufficiency ORPHA:261519
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Anophthalmia, Nail dysplasia, Microphthalmia, Sclerocornea, Iris coloboma,... ORPHA:139471
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Cataract, Ketonuria, Increased urinary glycerol ORPHA:247598
Porphyria Variegata
Chronic kidney disease, Hypopigmentation of the skin, Hypertrichosis, Increased urinary porphobil... ORPHA:79473
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Hypertrichosis, Hyperinsulinemia, Low anterior... ORPHA:528
Hypomelanosis Of Ito
Cataract, Alopecia, Iris coloboma, Macular hypopigmented whorls, streaks, and patches OMIM:300337
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Ectopic kidney, Cystic renal dysplasia, Microphthalmia OMIM:613730
Trichothiodystrophy 1, Photosensitive
Cataract, Microcornea, Small nail, Fine hair, Hypogonadism, Trichorrhexis nodosa, Tiger tail band... OMIM:601675
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Microphthalmia OMIM:267760
D-Lactic Aciduria With Gout
Elevated urine D-lactate level, Aniridia, Lacticaciduria OMIM:245450
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Cataract, Nephritis, Anterior lenticonus, Glomerular base... OMIM:203780
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria, Hypoglycemia ORPHA:6
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Cataract, Microphthalmia OMIM:601794
Cystinosis, Nephropathic
Hematuria, Aminoaciduria, Generalized aminoaciduria, Male hypogonadism, Hypopigmentation of the s... OMIM:219800
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypopigmentation of the skin, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormal localization of kidney, Delayed puberty, Hypopigmented skin patches ORPHA:1825
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypoglycemia, Adrenal insufficiency, Renal insufficiency, Lacticaciduria OMIM:619386
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria, Cataract, Abnormal hair morphology, Subcapsular cataract ORPHA:414
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Hypopigmentation of the skin, Decreased number of sweat glands, Dystrop... ORPHA:69087
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Elevated urinary formiminoglutamic acid level OMIM:229100
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Retinitis Pigmentosa
Keratoconus, Posterior subcapsular cataract, Hypogonadism, Hyperinsulinemia, Type II diabetes mel... ORPHA:791
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Sparse lateral eyebrow, Astigmatism, Microphthalmia OMIM:619694
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Cataract, Microphthalmia ORPHA:363741
Propionic Acidemia
Organic aciduria, Hypoglycemia ORPHA:35
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria, Elevated urine N-acetyltyrosine level, Herpetiform corneal ulcer... OMIM:276600
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin... ORPHA:230
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia ORPHA:664
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Fasting hyperinsulinemia, Dicarboxylic aciduria, Hypoketotic hypoglycemia... ORPHA:71212
Scorpion Envenomation
Acute kidney injury, Mydriasis, Ketonuria, Glycosuria, Hyperglycemia ORPHA:466677
Hawkinsinuria
Hawkinsinuria, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, Sparse hair, 4-hydroxyphenylace... OMIM:140350
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Sparse eyebrow, Coarse hair, Sparse eyelashes, Hydronephrosis, Patchy alop... ORPHA:35173
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Papillorenal Syndrome
Chronic kidney disease, Cataract, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidne... OMIM:120330
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Iris coloboma, Microphthalmia ORPHA:231736
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Elevated circulating pa... OMIM:613388
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria, Ectopia lentis ORPHA:833
Vici Syndrome
Cataract, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Renal tubular acidos... ORPHA:1493
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Hypertrichosis, Abnormality of skin pigmentation, Microphthalmia OMIM:612379
Hypogonadism-Cataract Syndrome
Hypogonadism, Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Alg3-Cdg
Cataract, Abnormality of the endocrine system, Hypopigmentation of the skin ORPHA:79321
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting t... ORPHA:83461
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria, Hypoglycemia OMIM:614741
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Alopecia, Hypopigmentation of the skin, Horseshoe kidney, Hyperphosphaturia, ... OMIM:163200
Pierpont Syndrome
Microcornea, High anterior hairline, Microphthalmia ORPHA:487825
Aniridia 1
Cataract, Increased proinsulin:insulin ratio, Ectopia lentis, Ectopia pupillae, Hypoplasia of the... OMIM:106210
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Alopecia, Vesicoureteral reflux, Microphthalmia, Iri... ORPHA:85284
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Hypogonadism, White forelock, Heterochromi... OMIM:613266
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Abnormal eyebrow morphology, Low posterior hairline, Aplasia/Hyp... ORPHA:85194
Pierpont Syndrome
Micropenis, Microcornea, High anterior hairline, Microphthalmia OMIM:602342
Waardenburg Syndrome, Type 2E
Iris hypopigmentation, Hypopigmented skin patches, Ocular albinism, Hypoplasia of the iris, Prema... OMIM:611584
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Cataract, Hypopigmentation of the skin, Ocular albinism, Partial albinism,... ORPHA:79430
Galactosemia Iii
Aminoaciduria, Galactosuria OMIM:230350
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Hermansky-Pudlak Syndrome 8
Silver-gray hair, Albinism, Myopic astigmatism, Ocular albinism, Astigmatism, Hypoplasia of the f... OMIM:614077
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism, Cataract OMIM:254000
Menkes Disease
Hypopigmentation of the skin, Alopecia, Sparse hair, Brittle hair OMIM:309400
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, White hair, Ocular albinism, Abnormal renal tubule morphology, G... ORPHA:2720
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperpigmentation ... OMIM:613743
Mmep Syndrome
Microphthalmia ORPHA:3434
Hereditary Mucoepithelial Dysplasia
Sparse hair, Cataract, Alopecia, Fine hair, Hematuria, Abnormality of the bladder, Corneal dystrophy ORPHA:1839
Hartnup Disease
Irregular hyperpigmentation, Hypopigmented skin patches, Neutral hyperaminoaciduria, Abnormal uri... ORPHA:2116
Curry-Jones Syndrome
Generalized hirsutism, Iris coloboma, Hypopigmented skin patches, Microphthalmia ORPHA:1553
Galactosemia I
Aminoaciduria, Cataract, Galactosuria, Increased level of galactitol in urine, Albuminuria, Hyper... OMIM:230400
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Microcornea, Anophthalmia, Microphthalmia, Micropenis, Opt... OMIM:610125
Dent Disease
Renal phosphate wasting, Cataract, Chronic kidney disease, Focal segmental glomerulosclerosis, Am... ORPHA:1652
Classic Mycosis Fungoides
Alopecia, Abnormality of the nail, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2584
Lichen Planus Pemphigoides
Conjunctivitis, Hypopigmented streaks, Abnormality of the nail ORPHA:254478
Seckel Syndrome 2
Few cafe-au-lait spots, Hypospadias, Ectopic kidney, Microphthalmia OMIM:606744
Frontofacionasal Dysplasia
Cataract, Microcornea, Aplasia/Hypoplasia of the eyebrow, Limbal dermoid, Absent inner eyelashes,... ORPHA:1791
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cataract, Type I diabetes mellitus, Male hypogonadism, Nephrocalcinosis, Alopecia, Pigmentary ret... OMIM:240300
Cronkhite-Canada Syndrome
Cataract, Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, General... ORPHA:2930
Atypical Werner Syndrome
Insulin-resistant diabetes mellitus, Premature graying of hair, Abnormal hair morphology, Hypergl... ORPHA:79474
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Cataract, Diabetes mellitus OMIM:601811
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Premature adrenarche, Precocious puberty, Decreased circulating gonadotrop... ORPHA:98754
Combined Oxidative Phosphorylation Deficiency 36
Aciduria, Hypoglycemia OMIM:617950
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypoglycemia, Hyperphosphaturia, Proteinuria, Diabet... OMIM:616026
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Cataract, Low anterior hairline, Corneal opacity OMIM:613153
Netherton Syndrome
Aminoaciduria, Sparse eyebrow, Irregular hyperpigmentation, Fine hair, Abnormal hair morphology, ... ORPHA:634
Lichen Planopilaris
Alopecia, Hypopigmented skin patches, Pterygium, Abnormal fingernail morphology, Onycholysis ORPHA:525
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Microphthalmia, Buphthalmos, Iris coloboma OMIM:212550
Cystinosis
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Renal insufficiency, Renal tubular dysfunct... ORPHA:213
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria OMIM:255100
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:158029
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Premature adrenarche, Precocious puberty, Decreased circulating gonadotrop... ORPHA:98793
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Cataract, Hypopigmentation of the skin, Small nail, Hypoplasi... OMIM:251300
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Highly arched eyebrow, Ketonuria, Hypoglycemia, Hyperglycemia, Low anterior hairline, Hirsutism, ... OMIM:220111
Incontinentia Pigmenti
Cataract, Alopecia, Coarse hair, Keratitis, Fine hair, Supernumerary nipple, Breast aplasia, Brea... OMIM:308300
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Vitreoretinochoroidopathy
Microcornea, Pigmentary retinopathy, Pulverulent cataract, Developmental cataract, Microphthalmia OMIM:193220
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Premature adrenarche, Precocious puberty, Decreased circulating gonadotrop... ORPHA:177904
Al-Raqad Syndrome
Hypopigmentation of the skin OMIM:616459
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Oculocerebrocutaneous Syndrome
Alopecia, Anophthalmia, Microphthalmia OMIM:164180
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Premature adrenarche, Precocious puberty, Decreased circulating gonadotrop... ORPHA:177901
Waardenburg Syndrome, Type 1
Premature graying of hair, Partial albinism, Thick eyebrow, White forelock, Heterochromia iridis,... OMIM:193500
Gracile Syndrome
Aminoaciduria OMIM:603358
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Developmental cataract, Microphthalmia OMIM:613155
Alstrom Syndrome
Nephritis, Alopecia, Pigmentary retinopathy, Insulin-resistant diabetes mellitus, Decreased respo... OMIM:203800
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches ORPHA:3239
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Cataract, Hirsutism, Microphthalmia OMIM:214150
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Multinodular goiter, Conjuncti... OMIM:618373
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria, Trichorrhexis nodosa, Abnormal hair quantity ORPHA:23
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Hypopigmentation of the skin, Ce... ORPHA:398079
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens ORPHA:1381
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Cataract, Microcornea, Ectopia pupillae, Long eyelashes, Anophthalmia, Microp... OMIM:615877
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Decreased response to growth hormone stimulation test, Horseshoe kidney, Vesico... OMIM:609053
Lissencephaly 8
Cataract, Microphthalmia OMIM:617255
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Griscelli Syndrome
Iris hypopigmentation, Silver-gray hair, Hypopigmented skin patches, White hair, Premature grayin... ORPHA:381
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Mottled pigmentation, Sparse scalp hair, Insulin-resistant diabetes mellitus, Hyperglyc... OMIM:248370
Lipoyltransferase 1 Deficiency
Alaninuria, Hyperglutaminuria, Lacticaciduria OMIM:616299
Porphyria, Congenital Erythropoietic
Alopecia, Hypopigmentation of the skin, Hypertrichosis, Corneal scarring, Red urine, Loss of eyel... OMIM:263700
Severe Oculo-Renal-Cerebellar Syndrome
Cataract, Hypopigmented skin patches, Renal insufficiency, Abnormality of retinal pigmentation, P... ORPHA:2715
Warburg Micro Syndrome 3
Cataract, Microcornea, Hypertrichosis, Low anterior hairline, Developmental cataract, Microphthal... OMIM:614222
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Abnormality of the upper urinary tract, Microphthalmia, Hypoplasia of penis, Abnorma... ORPHA:2547
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Carney Complex, Type 1
Pituitary adenoma, Multiple lentigines, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular h... OMIM:160980
Adams-Oliver Syndrome 2
Alopecia, Small nail, Low anterior hairline, Developmental cataract, Microphthalmia OMIM:614219
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Unilateral microphthalmos, Bilateral microphthalmos, Hirsutism OMIM:619318
Traboulsi Syndrome
Cataract, Homocystinuria, Ectopia lentis, Phakodonesis, Microphthalmia, Iris atrophy, Spherophaki... OMIM:601552
Trichothiodystrophy 3, Photosensitive
Cataract, Trichorrhexis nodosa, Tiger tail banding, Developmental cataract, Brittle hair, Microph... OMIM:616395
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Astigmatism, Corneal opacity, Microphthalmia OMIM:152950
Acute Radiation Syndrome
Cataract, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:454831
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:627
Chediak-Higashi Syndrome
Iris hypopigmentation, Silver-gray hair, Hypopigmentation of the skin, Ocular albinism, Macular h... OMIM:214500
Hermansky-Pudlak Syndrome 6
Urinary incontinence, Albinism, Hypopigmentation of the skin, Recurrent urinary tract infections,... OMIM:614075
Trisomy 13
Cataract, Abnormality of the ureter, Aplasia/Hypoplasia of the iris, Anophthalmia, Displacement o... ORPHA:3378
Encephalocraniocutaneous Lipomatosis
Alopecia, Hypoplasia of the iris, Limbal dermoid, Linear hyperpigmentation, Hydronephrosis, Micro... OMIM:613001
Slc35A2-Cdg
Precocious puberty, Hypopigmentation of the skin, Elevated circulating thyroid-stimulating hormon... ORPHA:356961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Microphthalmia ORPHA:93267
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Alopecia, Sparse eyebrow, Keratitis, Nail dystrophy, Sparse eyelashes, Nail dysplasia, ... OMIM:612843
Epidermal Nevus Syndrome
Hypopigmentation of the skin, Polycystic kidney dysplasia, Astigmatism, Hyperpigmentation of the ... ORPHA:35125
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Macular hypoplasia, Leukocoria, Phthisis bu... ORPHA:91495
Temtamy Syndrome
Highly arched eyebrow, Ectopia lentis, Microphthalmia, Iris coloboma, Lens luxation OMIM:218340
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Anophthalmia, Microphthalmia, Polycystic kidney dysplasia, Enlarged kidney OMIM:613885
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria ORPHA:79246
Frontonasal Dysplasia 1
Cataract, Widow's peak, Microphthalmia OMIM:136760
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Sparse eyebrow, Bilateral microphthalmos, Conjunctival hyperemia, Corneal opacity, Micr... ORPHA:2399
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microphthalmia OMIM:618805
Xeroderma Pigmentosum, Complementation Group C
Conjunctivitis, Hypopigmentation of the skin, Keratitis, Freckling OMIM:278720
Bardet-Biedl Syndrome 9
Cataract, Hyperglycemia, Renal insufficiency, Astigmatism, Bone spicule pigmentation of the retina OMIM:615986
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria, Small nail, Hypogonadism, Hypoplastic nipples, Sparse hair OMIM:273400
Limited Cutaneous Systemic Sclerosis
Hypopigmented skin patches, Abnormality of skin pigmentation ORPHA:220402
Dowling-Degos Disease
Inguinal freckling, Hypermelanotic macule, Abnormal fingernail morphology, Penile freckling, Mixe... ORPHA:79145
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia, Abnormality of retinal pigmentation ORPHA:171844
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Xeroderma Pigmentosum, Complementation Group B
Cataract, Pigmentary retinopathy, Hypogonadism, Freckling, Microphthalmia OMIM:610651
Micro Syndrome
Cataract, Microcornea, Abnormal localization of kidney, Abnormality of retinal pigmentation, Hydr... ORPHA:2510
Multiple Benign Circumferential Skin Creases On Limbs
Microcornea, Irregular hyperpigmentation, Generalized hirsutism, Microphthalmia, Hypospadias ORPHA:2505
Atelis Syndrome 2
Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration, Developmental c... OMIM:620185
Temtamy Syndrome
Iris coloboma, Microphthalmia ORPHA:1777
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Horseshoe kidney, Nail dystrophy, Hirsutism, Low posterior hairline, Spotty ... OMIM:300860
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Corneal opacity, Microphthalmia, Antecubital pterygium OMIM:619339
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria,... ORPHA:2088
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Microphthalmia ORPHA:858
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Hyperparathyroidism, Elevated urinary dopamine level, Increased circu... OMIM:171400
Large Congenital Melanocytic Nevus
Generalized hirsutism, Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormalit... ORPHA:626
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Warburg Micro Syndrome 4
Microcornea, Low anterior hairline, Hirsutism, Developmental cataract, Microphthalmia, Micropenis OMIM:615663
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Hypoglyce... ORPHA:3337
Linear Skin Defects With Multiple Congenital Anomalies 2
Highly arched eyebrow, Nail dystrophy, Microphthalmia OMIM:300887
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Congenital Disorder Of Glycosylation, Type Ib
Renal cyst, Proximal tubulopathy, Hyperinsulinemic hypoglycemia OMIM:602579
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria ORPHA:147
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Microphthalmia/Coloboma 12
Peters anomaly, Optic nerve aplasia, Vesicoureteral reflux, Corneal opacity, Microphthalmia OMIM:120200
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Microphthalmia, Ma... OMIM:612109
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Cataract, Anterior lenticonus, Thickened glomerular basement membrane, Glomerular ba... OMIM:308940
Refsum Disease
Cataract, Renal insufficiency, Abnormality of retinal pigmentation, Nail dysplasia, Microphthalmia ORPHA:773
Crouzon Syndrome
Conjunctivitis, Melanocytic nevus, Iris coloboma, Hypopigmented skin patches ORPHA:207
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Central hypothyroid... ORPHA:508
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Blue irides OMIM:105830
Rere-Related Neurodevelopmental Syndrome
Iris coloboma, Peters anomaly, Vesicoureteral reflux, Astigmatism, Broad eyebrow, Microphthalmia,... ORPHA:494344
Sandestig-Stefanova Syndrome
Highly arched eyebrow, Sparse medial eyebrow, Developmental cataract, Microphthalmia, Laterally e... OMIM:618804
Microphthalmia/Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea, Iris coloboma OMIM:615145
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Decreased growth ho... OMIM:609734
Prader-Willi Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Adre... OMIM:176270
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria OMIM:619003
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty, Microphthalmia, Corneal opacity ORPHA:2788
Incontinentia Pigmenti
Cataract, Alopecia, Ridged fingernail, Keratitis, Hypopigmented skin patches, Irregular hyperpigm... ORPHA:464
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria OMIM:617184
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypospadias, Hypopigmented skin patches, Curly hair, Neonatal hypoglycemia, Cafe-au-lait spot ORPHA:457485
Hepatoerythropoietic Porphyria
Red-brown urine, Facial hypertrichosis, Hypopigmentation of the skin, Purple urine, Red urine, Lo... ORPHA:95159
Lymphedema-Distichiasis Syndrome
Cataract, Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Dis... ORPHA:33001
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98794
Wolfram Syndrome 1
Cataract, Pigmentary retinopathy, Hydroureter, Hydronephrosis, Hypothyroidism, Neurogenic bladder... OMIM:222300
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Abnormal cornea morphology, Corne... ORPHA:411634
Tyrosinemia, Type Iii
4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria, Hypertyrosinemia OMIM:276710
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hypoglycemia, Ren... OMIM:231680
Chronic Actinic Dermatitis
Progressive hyperpigmentation, Hypopigmented skin patches ORPHA:330064
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:1135
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Warburg Micro Syndrome 2
Cataract, Microcornea, Low anterior hairline, Developmental cataract, Microphthalmia, Micropenis OMIM:614225
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Hypopigmentation of the skin, Nail dystrophy, Generalized reticulate brown pigmentation... ORPHA:79396
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Hypopigmentation of the skin, Central hypothyroidism, ... ORPHA:398069
Angelman Syndrome
Iris hypopigmentation, Keratoconus, Precocious puberty in females, Hypopigmentation of the skin, ... ORPHA:72
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Cataract, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Bone spicule pigmen... OMIM:268315
Vici Syndrome
Cataract, Albinism, Hypopigmentation of the skin, Ocular albinism, Penile hypospadias, Macular hy... OMIM:242840
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Decreased response to g... ORPHA:3464
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Ureterocele, Sparse eyelashes, Duplicated collecting system, Renal dysplasia, Sparse pubic hair, ... OMIM:604292
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Microphthalmia ORPHA:3191
Phakomatosis Pigmentovascularis
Generalized hyperpigmentation, Hypopigmented skin patches ORPHA:2875
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Generalized hirsutism, Methylmalonic aciduria ORPHA:1933
Pierson Syndrome
Cataract, Nephrotic syndrome, Hypoplasia of the iris, Hyperechogenic kidneys, Rieger anomaly, Uve... OMIM:609049
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome