| Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair |
OMIM:609227 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... |
OMIM:214450 |
| Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
| Tietz Syndrome |
|
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... |
ORPHA:42665 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair |
ORPHA:1410 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... |
ORPHA:263458 |
| Griscelli Syndrome Type 3 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism |
ORPHA:79478 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:300971 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Waardenburg Syndrome, Type 2F |
|
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... |
OMIM:619947 |
| Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:606952 |
| Hidrotic Ectodermal Dysplasia |
|
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... |
ORPHA:189 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... |
ORPHA:170 |
| Glycogen Storage Disease 0, Liver |
|
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... |
ORPHA:79299 |
| Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Hyperchloremia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Hyperchloremia |
OMIM:614495 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:214700 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Blue irides, Hypopigmentation of hair |
OMIM:606574 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... |
OMIM:613265 |
| Griscelli Syndrome, Type 2 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... |
OMIM:607624 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia |
OMIM:613090 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Hyperchloremia |
OMIM:614496 |
| White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Pigmentary retinopathy |
OMIM:609016 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Decreased circulating renin level, Hyperchloremia |
OMIM:614492 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Ermine Phenotype |
|
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... |
OMIM:227010 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia, Red hair |
OMIM:620195 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... |
OMIM:193510 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:232700 |
| Hypotrichosis 8 |
|
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... |
OMIM:278150 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:619165 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:240900 |
| Albinism, Oculocutaneous, Type Ii |
|
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... |
OMIM:203200 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... |
ORPHA:895 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased circulating iron concentration, Hypoglycemia |
ORPHA:446 |
| Oculocutaneous Albinism Type 3 |
|
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... |
ORPHA:79433 |
| Woolly Hair Nevus |
|
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... |
ORPHA:79414 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... |
OMIM:256710 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... |
ORPHA:2885 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:2786 |
| Oculocerebral Syndrome With Hypopigmentation |
|
Hypopigmentation of the skin, Silver-gray hair |
OMIM:257800 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia |
OMIM:602522 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... |
OMIM:601678 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperammonemia, Increased C-peptide level, Hypoglycemia,... |
OMIM:620211 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock |
OMIM:601706 |
| Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... |
ORPHA:33445 |
| Griscelli Syndrome Type 1 |
|
Premature graying of hair, Hyperlipidemia, White hair, Iris hypopigmentation, Partial albinism |
ORPHA:79476 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Onychauxis, Hypogly... |
OMIM:262190 |
| Bartter Syndrome Type 4 |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia |
ORPHA:89938 |
| Waardenburg Syndrome, Type 4A |
|
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... |
OMIM:277580 |
| Waardenburg-Shah Syndrome |
|
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... |
ORPHA:897 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperkalemia, Neonatal hypoglycemia, Frontal balding, Hirsutism, Hypochloremia, Hyponatremia |
ORPHA:90794 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Hyperinsulinemia, Red hair, Hypoglycemic seizures |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Hyperinsulinemia, Red hair, Hypoglycemic seizures |
ORPHA:71526 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... |
OMIM:241200 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hyperammonemia, Hypoglycemia |
ORPHA:6 |
| Methionine Malabsorption Syndrome |
|
Blue irides, Positive ferric chloride test, White hair |
OMIM:250900 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Abnormality of skin pigmentation, Hypoglycemia, Hyponatremia |
OMIM:240200 |
| Piebaldism |
|
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... |
ORPHA:2884 |
| Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... |
ORPHA:79435 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hyper... |
OMIM:615160 |
| Vogt-Koyanagi-Harada Disease |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ... |
ORPHA:3437 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
| Waardenburg Syndrome Type 1 |
|
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... |
ORPHA:894 |
| Piebald Trait |
|
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... |
OMIM:172800 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Hypoglycemia |
ORPHA:664 |
| Hemochromatosis, Neonatal |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Abnormali... |
OMIM:231100 |
| Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots, Type II diabete... |
ORPHA:100 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177910 |
| Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Hyperlipidemia, Iris hypopigmentation, Parti... |
ORPHA:79477 |
| Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:614072 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia, Red hair, Hypoglycemic seizures |
OMIM:609734 |
| Oculocutaneous Albinism Type 2 |
|
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... |
ORPHA:79432 |
| Oculocutaneous Albinism Type 1 |
|
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... |
ORPHA:352731 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair |
ORPHA:2221 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Diabetes mellitus, Red hair, Fair hair |
OMIM:614613 |
| Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... |
ORPHA:79434 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411515 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Ermine Phenotype |
|
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... |
ORPHA:999 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... |
ORPHA:79431 |
| Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Abnormality of hair pigmentation, Elevated circulat... |
OMIM:618156 |
| Classic Phenylketonuria |
|
Hyperphenylalaninemia, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:79254 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... |
OMIM:203100 |
| Waardenburg Syndrome |
|
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... |
ORPHA:3440 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F... |
OMIM:203300 |
| Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling |
OMIM:160980 |
| Waardenburg Syndrome, Type 4C |
|
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... |
OMIM:613266 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... |
ORPHA:3214 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:618541 |
| Muenke Syndrome |
|
Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair |
ORPHA:53271 |
| Hoyeraal-Hreidarsson Syndrome |
|
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Generalized hyperpigmentation, Gene... |
ORPHA:3322 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98795 |
| Hypohidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... |
ORPHA:238468 |
| Angelman Syndrome Due To A Point Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411511 |
| Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
| Syndromic Diarrhea |
|
Trichorrhexis nodosa, Abnormality of iron homeostasis, Hypopigmentation of hair, Brittle hair, Ge... |
ORPHA:84064 |
| Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Giant melanosomes in me... |
OMIM:214500 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98794 |
| Cystinosis, Nephropathic |
|
Hypophosphatemic rickets, Hypopigmentation of hair, Reduced blood urea nitrogen, Hypokalemia, Dec... |
OMIM:219800 |
| Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Hypopigmentation of hair, Hypoproteinemia, Hypopigmentation of the skin, La... |
ORPHA:167 |
| Koolen-De Vries Syndrome |
|
Abnormality of hair texture, Hypopigmentation of hair |
ORPHA:96169 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Type II diabetes mellitus, Hypopigmentation of hair |
ORPHA:398079 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Long eyelashes, Iris hypopigmentation, Me... |
ORPHA:79430 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Diabetes mellitus, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98754 |
| Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... |
ORPHA:163746 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Type II diabetes mellitus, Hypopigmentation of hair |
ORPHA:398069 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Diabetes mellitus, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Iris hypopigmentation, Diabetes mellitus, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Iris hypopigmentation, Diabetes mellitus, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177901 |
| Menkes Disease |
|
Woolly hair, Hypoglycemia, Hypopigmentation of hair, Sparse hair |
ORPHA:565 |
| Vici Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Elevated circulating creatine kinase conc... |
OMIM:242840 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak |
ORPHA:1974 |
| Prader-Willi Syndrome |
|
Diabetes mellitus, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:739 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism |
ORPHA:2719 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris, Hypopigmentation of the s... |
ORPHA:177907 |
| Degcags Syndrome |
|
Premature graying of hair, Hypopigmentation of hair, Hyperbilirubinemia, Abnormal eyelash morphol... |
OMIM:619488 |
| Smith-Lemli-Opitz Syndrome |
|
Elevated circulating 7-dehydrocholesterol concentration, Abnormal eyelash morphology, Hypopigment... |
ORPHA:818 |
