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Gene: Tbx19 MGI:1891158

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
T-box 19
Synonyms:
D1Ertd754e,  Tpit

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tbx19 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 Tbx19 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Acth Deficiency, Isolated
Decreased circulating cortisol level, Fasting hypoglycemia, Adrenocorticotropic hormone deficienc... OMIM:201400
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hypoglycemic seizures, Adrenocorticotro... ORPHA:199296

The table below shows human diseases predicted to be associated to Tbx19 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Gonadotropin... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Gonadotropin... ORPHA:71526
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314802
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Decreased body weight, Hypoglycemia, Delayed puberty ORPHA:314811
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Hyperpigmentation of the skin OMIM:609197
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Increased circulating ACTH level, Hyperpigmentation of the skin OMIM:202355
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Hyperpigmentation of the ... OMIM:607398
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H... OMIM:262400
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation te... OMIM:262700
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... ORPHA:241
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... ORPHA:171706
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Generalized hyperpigmentation, Abnormal circulating renin, ... OMIM:202200
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... OMIM:617294
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero... OMIM:232700
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus ORPHA:2435
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Hypoglycemia OMIM:609016
Gemignani Syndrome
Abnormal testis morphology, Hypopigmented skin patches, Delayed puberty ORPHA:2074
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp... ORPHA:89838
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Onychauxis, Precocious puberty, Insulin-resistant diabet... OMIM:262190
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... ORPHA:453533
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Alopecia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hy... ORPHA:3143
Acth Deficiency, Isolated
Decreased circulating cortisol level, Fasting hypoglycemia, Adrenocorticotropic hormone deficienc... OMIM:201400
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... ORPHA:79397
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the young, Maternal d... ORPHA:324575
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Primary adrena... ORPHA:3453
Hypoadrenocorticism, Familial
Abnormality of skin pigmentation, Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia OMIM:240200
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance OMIM:307500
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia, Obesity OMIM:620195
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis OMIM:103500
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating co... OMIM:615830
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Diabetes mellitus, Nail dystrophy, Hyperpigmentation of the skin ORPHA:46487
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Obesity, Hypopigmentation of the skin, I... ORPHA:177910
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig... ORPHA:69125
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia ORPHA:67046
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair, Male hypogonad... ORPHA:90793
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchidism, Abnormal ... OMIM:614736
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome OMIM:201910
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Combined Oxidative Phosphorylation Deficiency 34
Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulating hormone co... OMIM:617872
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Insulin resistance, Hyperlipidemia, Abdominal obesity, Hypopigmentation of the... OMIM:615980
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism,... ORPHA:95496
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... ORPHA:79644
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Incr... OMIM:610600
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I dia... ORPHA:276580
Temple Syndrome
Few cafe-au-lait spots, Small for gestational age, Decreased response to growth hormone stimulati... ORPHA:254516
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... ORPHA:79399
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Glucocorticoid Deficiency 5
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, Hyperpigmentati... OMIM:617825
Griscelli Syndrome Type 1
Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Iris hypopigmentation ORPHA:79476
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Pituicytoma
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:251623
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, O... OMIM:300148
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Type I ... ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, ... ORPHA:276556
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Abnormal eyebrow morphology, Delayed puberty, Generalized hypopigmentation, Irregular hyperpigmen... ORPHA:1816
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age OMIM:618858
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Hyperpigmentation of the skin, Neonatal hypoglycemia, Incre... ORPHA:90791
2P21 Microdeletion Syndrome
Failure to thrive, Hypogonadism, Hypoglycemia, Long eyelashes ORPHA:163693
Late-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circulating... ORPHA:556037
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Hyperglycemia, Type II diabetes mellitus OMIM:520000
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail dysplasia, Sparse hair, Onych... ORPHA:2251
Early-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circulating... ORPHA:556030
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hypoglycemic seizures, Adrenocorticotro... ORPHA:199296
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Increased circulating AC... ORPHA:90790
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age OMIM:606176
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidis... OMIM:616113
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia, Iris hypopigmentation ORPHA:67048
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... ORPHA:94086
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen... ORPHA:79133
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Paradoxical increased cortisol secretion on dexametha... ORPHA:189427
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Maternal diabetes, Insulin-resistant diabetes mellitus, Insulin resistance,... OMIM:604367
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ... ORPHA:786
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Immunodeficiency, Common Variable, 10
Trachyonychia, Hypoglycemia, Decreased response to growth hormone stimulation test, Alopecia tota... OMIM:615577
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... ORPHA:91355
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Failure to thrive, Hypoglycemia, Delayed puberty ORPHA:369
Donohue Syndrome
Hypermelanotic macule, Precocious puberty, Hyperinsulinemia, Ovarian cyst, Pancreatic islet-cell ... OMIM:246200
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level OMIM:202150
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Small for gestational age, Hypoglycemia, Neonatal hypoglycemia, Decreased body weight ORPHA:231140
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation ORPHA:411515
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive ORPHA:2089
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Hypogonadism, Adrenal insufficiency, Hypothyr... OMIM:617575
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hypoglycemia, Insulin resistance, Low anterior hairline, Low posterior... ORPHA:73272
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Long eyelashes, Hypogonadotropic hypogonadism, Hypoglycemia ORPHA:48431
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia ORPHA:6
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Hypoglycemia, Fine hair, Long eyelashes, High anterior hairline ORPHA:231137
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Hypoglycemia ORPHA:231147
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest... ORPHA:633
Ataxia-Telangiectasia
Hypopigmentation of hair, Diabetes mellitus, Abnormal testis morphology, Polycystic ovaries, Prem... ORPHA:100
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Diarrhea 13
Recurrent hypoglycemia, Failure to thrive OMIM:620357
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98754
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... ORPHA:3437
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Alopecia, Dec... ORPHA:293978
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Decreased circulating ACT... ORPHA:199299
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia ORPHA:364
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Galactokinase Deficiency
Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hyperc... ORPHA:79237
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98793
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hypoglycemia OMIM:619386
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... ORPHA:79414
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia, Decreased response to growth hormone stimulation test, Thick eyebrow ORPHA:436174
Maternal Uniparental Disomy Of Chromosome X
Primary gonadal insufficiency, Hypopigmentation of the skin, Low posterior hairline ORPHA:261519
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177904
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased testicular size, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormo... ORPHA:90796
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Essential Fructosuria
Hyperglycemia ORPHA:2056
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177901
Glycogen Storage Disease Iii
Hyperlipidemia, Hypoglycemia OMIM:232400
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... OMIM:228300
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Silver-Russell Syndrome 1
Small for gestational age, Decreased response to growth hormone stimulation test, Fasting hypogly... OMIM:180860
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Hyperpigmentation of the skin, Adrenocorticotropic hor... OMIM:613743
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Precocious puberty, ... ORPHA:398079
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Hypoglycemi... ORPHA:85138
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia OMIM:608600
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Small for gestational age, Hypoglycemia, Synophrys, Low anterior hairline, Fin... ORPHA:391408
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Bile duct proliferation, Fasting hypoglycemia, Hypoglycemia OMIM:613027
Infantile Sialic Acid Storage Disease
Fair hair, Failure to thrive, Hypopigmentation of the skin OMIM:269920
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Hypoglycemia, Adrenal hypoplasia, Sparse axillary hair, Pri... ORPHA:95409
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Failure to thrive, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Decreased ci... OMIM:616030
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Failure to thrive, Hypoglycemia OMIM:618958
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Waardenburg Syndrome, Type 3
Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ... OMIM:148820
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Genera... ORPHA:69087
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia OMIM:614741
Odontotrichoungual-Digital-Palmar Syndrome
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Ketotic hypoglycemia ORPHA:26792
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:403
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Impaired glucose tolerance, Thick hair, Onychauxis, Pr... ORPHA:769
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Pancreatic islet-... ORPHA:263455
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia OMIM:619048
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Griscelli Syndrome Type 2
Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop... ORPHA:79477
Silver-Russell Syndrome Due To A Point Mutation
Small for gestational age, Hypoglycemia, Cryptorchidism, Cafe-au-lait spot, Hypothyroidism, Hypop... ORPHA:397590
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment... ORPHA:158681
Phenylketonuria
Generalized hypopigmentation, Fair hair, Blue irides OMIM:261600
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Hypopigmented skin patches, Delayed puberty ORPHA:1825
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Propionic Acidemia
Hypoglycemia ORPHA:35
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Long eyela... OMIM:606407
Prader-Willi Syndrome
Hypopigmentation of hair, Diabetes mellitus, Decreased response to growth hormone stimulation tes... ORPHA:739
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Hypoglycemia ORPHA:289504
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308700
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased testicular size, Decreased circulating cortisol level, Generalized hyperpigmentation, A... ORPHA:289548
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Cryptorchidism, Fine hair, Recurrent hypoglycemia, Delayed puberty, Sp... OMIM:616817
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hyperpigmentation of the skin, Congenital adrenal hyperplasia, Decreased circulating aldosterone ... OMIM:202010
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia OMIM:618839
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Cryptorchidism, Blue irides, Obesity, Congenital hypothyroidism, Red hair, Fai... OMIM:614613
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... ORPHA:300373
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Brittle hair, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Gl... OMIM:608612
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia OMIM:246900
Smith-Kingsmore Syndrome
Curly hair, Hypoglycemia, Large for gestational age, Cryptorchidism, Cafe-au-lait spot OMIM:616638
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Hypopigmented skin patches,... ORPHA:1807
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased testicular size, Decreased circulating cortisol level, Generalized hyperpigmentation, E... ORPHA:168558
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hypercholest... OMIM:615812
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented skin patches, Prematur... OMIM:613266
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Hypoglycemia OMIM:615160
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Hypoglycemia, Large for gestational age, Cry... OMIM:619075
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Hypermelanotic macule, Multinodular goiter, Hypomelanotic macule, Nail dystrophy, Freck... OMIM:618373
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... OMIM:614839
Prader-Willi Syndrome
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... OMIM:176270
Histidinuria-Renal Tubular Defect Syndrome
Hypoplastic toenails, Hypoglycemia ORPHA:2158
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Hyperglycemia OMIM:604484
Classic Galactosemia
Cryptorchidism, Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:79239
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Large for gestational age, Cryptorchidism, Hypopigmented skin patches, Cafe-au-lait s... ORPHA:457485
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Hypopigmentation of hair, Precocio... ORPHA:398069
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Decreased circulating luteinizing hormone level, Decreased circulating follicle s... OMIM:614897
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia OMIM:620137
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Diabetes mellitus, Hypoglycemia, Large for gestational age OMIM:616026
Menkes Disease
Sparse hair, Alopecia, Brittle hair, Hypopigmentation of the skin OMIM:309400
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... ORPHA:251274
Solitary Fibrous Tumor
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia, Weight loss ORPHA:2126
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Cryptorchidism, Spotty hypopigmentation, Atrichia, Na... ORPHA:1867
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Fasting hyperinsulinemia, Hypoglycemic seizures, Pig... ORPHA:71212
Classic Mycosis Fungoides
Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail ORPHA:2584
Cushing Disease
Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Diabetes mellitus, Para... ORPHA:96253
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Small for gestational age, Hypoglycemia OMIM:614702
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95513
Glycogen Storage Disease Ixb
Hypoglycemia OMIM:261750
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Thick eyebrow, Hypertrichosis OMIM:616260
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair, Small for gestational age, Hypoglycemia OMIM:618253
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Transient hyperlipidemia ORPHA:156
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Failure to thrive, Neonatal hypoglycemia OMIM:619046
Hemochromatosis, Neonatal
Hypoglycemia OMIM:231100
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Hypoglycemia ORPHA:79096
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Weight loss, Hyperglycemia, Decreased serum tes... ORPHA:465508
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism, Obesity OMIM:619737
Alg3-Cdg
Abnormality of the endocrine system, Hypopigmentation of the skin ORPHA:79321
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:158029
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia OMIM:614739
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95512
Fanconi-Bickel Syndrome
Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolerance, Fasting hypoglycemia, Glycos... ORPHA:2088
Pyruvate Dehydrogenase E3 Deficiency
Failure to thrive, Hypoglycemia ORPHA:2394
Al-Raqad Syndrome
Hypopigmentation of the skin OMIM:616459
Pyruvate Carboxylase Deficiency
Hypoglycemia OMIM:266150
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation ORPHA:411511
Porphyria Cutanea Tarda
Diabetes mellitus, Hirsutism, Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypert... ORPHA:101330
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Slc35A2-Cdg
Precocious puberty, Hypopigmentation of the skin, Elevated circulating thyroid-stimulating hormon... ORPHA:356961
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Weight loss, Ovarian neoplasm, ... ORPHA:2221
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches ORPHA:3239
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Cryptorchidism, Insulin resistance, O... ORPHA:813
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Failure ... OMIM:610768
Localized Epidermolysis Bullosa Simplex
Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin ORPHA:79400
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
Bloom Syndrome
Small for gestational age, Cryptorchidism, Spotty hypopigmentation, Type II diabetes mellitus, Ca... OMIM:210900
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia, Hirsutism OMIM:175700
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypoglycemia OMIM:245400
Bardet-Biedl Syndrome 9
Truncal obesity, Bone spicule pigmentation of the retina, Obesity, Hyperglycemia OMIM:615986
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Impaired gluconeogenesis, Hypoglycemia, Fasting hypoglycemia OMIM:261680
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Hypothyroidism, Hirsutism, Hypoglycemia OMIM:618005
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Mandibuloacral Dysplasia With Type A Lipodystrophy
Sparse scalp hair, Alopecia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyp... OMIM:248370
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:369929
Griscelli Syndrome
Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, White hair, Hypopigme... ORPHA:381
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Cryptorchidism, Adrenal insuffi... OMIM:617053
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Shashi-Pena Syndrome
Hypoglycemia, Highly arched eyebrow, Synophrys, Long eyelashes, Hypertrichosis OMIM:617190
Pancreatic And Cerebellar Agenesis
Failure to thrive, Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancrea... OMIM:609069
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Increased body weight, Polycystic ovaries, Fasting hypoglycem... ORPHA:264580
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Cachexia ORPHA:42
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Hypopigmented skin patches ORPHA:220402
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:615453
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Hypoglycemia, Cachexia, Thyroid carcinoma, Multiple cafe-au-lait ... ORPHA:109
Porphyria Variegata
Inappropriate antidiuretic hormone secretion, Hypopigmentation of the skin, Hyperpigmentation of ... ORPHA:79473
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Lichen Planopilaris
Alopecia, Onycholysis, Abnormal fingernail morphology, Hypopigmented skin patches ORPHA:525
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration OMIM:223360
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Cachexia, Abnormality of the thyroid gland, Melanocytic nevu... ORPHA:1969
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Obesity, Blue irides OMIM:105830
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Infantile Liver Failure Syndrome 2
Hypoglycemia OMIM:616483
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... OMIM:201810
Lichen Planus Pemphigoides
Hypopigmented streaks, Abnormality of the nail ORPHA:254478
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Premature adrenarche, Hypogonadotrop... ORPHA:90794
Cog8-Cdg
Failure to thrive, Hypoglycemia ORPHA:95428
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation ORPHA:98794
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... ORPHA:626
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Alopecia, Hypopigmentation of the skin OMIM:163200
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair, Failure to thrive, Hypopigmentation of the skin OMIM:236200
Basilicata-Akhtar Syndrome
Precocious puberty, Neonatal hypoglycemia OMIM:301032
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Synophrys, Increased body weight, Spotty hypopigmentation, Low posterior hai... OMIM:300860
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Cryptor... OMIM:307030
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Carnitine Deficiency, Systemic Primary
Impaired gluconeogenesis, Recurrent hypoglycemia, Failure to thrive OMIM:212140
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... ORPHA:35173
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Synophrys, Hypogonadotropic hypogonadism, Hypopigmented skin patches, Aplastic/hypoplastic toenail ORPHA:1295
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... OMIM:611584
Hypomelanosis Of Ito
Macular hypopigmented whorls, streaks, and patches, Alopecia OMIM:300337
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hypopituitarism, Hypothyroidism, Hyperglycemia ORPHA:90065
Propionic Acidemia
Failure to thrive, Hypoglycemia OMIM:606054
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Ocular albinism, Albinism OMIM:614075
Glycogen Storage Disease Ia
Hypoglycemia, Hyperlipidemia, Xanthelasma, Fasting hypoglycemia, Delayed puberty OMIM:232200
Angelman Syndrome
Precocious puberty in females, Obesity, Delayed menarche, Fair hair, Hypopigmentation of the skin... ORPHA:72
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Ketotic hypoglycemia, Increased body weight, Polycystic ovaries, Recurrent ... ORPHA:79240
Chronic Actinic Dermatitis
Progressive hyperpigmentation, Hypopigmented skin patches ORPHA:330064
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Sparse eyelashes, Paronychia, Insulin resistance, A... ORPHA:125
Houge-Janssens Syndrome 1
Hypoglycemia OMIM:616355
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, ... OMIM:151660
Dowling-Degos Disease
Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin... ORPHA:79145
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Phakomatosis Pigmentovascularis
Generalized hyperpigmentation, Hypopigmented skin patches ORPHA:2875
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... ORPHA:177907
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia OMIM:617710
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Hypoglycemia OMIM:210200
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hypoketotic hypoglycemia OMIM:255120
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Synophrys, Hypopigmentation of the skin, Hirsutism OMIM:614969
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Ocular albinism, Weight loss, Melanocytic nevus, Long... ORPHA:79430
Hsd10 Disease, Infantile Type
Hypoglycemia ORPHA:391428
Prolactinoma
Abnormal hair quantity, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating ... ORPHA:2965
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypoglycemia, Precocious puberty, Synophrys, Obesity, Cholelithiasis, Hypopigmentation of the skin OMIM:301066
Leprechaunism
Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronis... ORPHA:508
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Hypoglycemia, Decreased response to growth hormone stimulation tes... OMIM:616007
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... OMIM:214500
Atypical Werner Syndrome
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Alopecia... ORPHA:79474
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown ... ORPHA:79396
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Pigmentary retinopathy, Failure to thrive in infancy, Hypoketotic hypoglycemia ORPHA:746
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia OMIM:201450
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha... OMIM:193500
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia OMIM:617049
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia OMIM:600649
Short Syndrome
Small for gestational age, Insulin-resistant diabetes mellitus, Insulin resistance, Ovarian cyst,... OMIM:269880
Rothmund-Thomson Syndrome Type 1
Small for gestational age, Alopecia totalis, Hypothyroidism, Cryptorchidism, Sparse or absent eye... ORPHA:221008
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Failure to thrive, Hypoglycemia OMIM:210210
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Broad lateral eyebrow, Long eyelashes, Obesity, Neonatal hypoglycemia OMIM:608624
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Hypoglycemia OMIM:251000
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating aldosterone level, Abnormality of circulating cortisol l... ORPHA:320
Maple Syrup Urine Disease
Hypoglycemia OMIM:248600
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Neonatal hypoglycemia OMIM:212138
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia OMIM:231530
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Hypoglycemia, Neonatal hypoglycemia ORPHA:348
Aica-Ribosuria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Ruvalcaba Syndrome
Cryptorchidism, Hypopigmented skin patches, Generalized hirsutism, Delayed puberty ORPHA:3121
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Failure to thrive, Small for gestational age, Hypoglycemia OMIM:607143
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia OMIM:246450
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Hyperglycemia, Annular pancreas, Pancreatic hypoplasia OMIM:615710
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Vici Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of the skin ORPHA:1493
D-Glyceric Aciduria
Failure to thrive, Hypoglycemia OMIM:220120
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Small for gestational age, Hypoplasia of the thymus, Unco... ORPHA:84064
Squalene Synthase Deficiency
Bilateral cryptorchidism, Failure to thrive in infancy, Abnormality of hair pigmentation, Hypocho... OMIM:618156
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Neonatal hypoglycemia OMIM:617600
Dyskeratosis Congenita
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Abnormal fing... ORPHA:1775
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy, Failure to thrive, Small for gestational age, Hypoketotic hypoglycemia OMIM:609015
Intellectual Disability And Myopathy Syndrome
Cafe-au-lait spot, Spotty hypopigmentation OMIM:619719
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Compensated hypothyroidism, Hypoglycemia, Hypoglycemic seizures ORPHA:480864
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Loss of eyelashes, Cholelithiasis, Hypopigmentation of the skin, Hyperp... OMIM:263700
Congenital Disorder Of Glycosylation, Type It
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty OMIM:614921
Isolated Complex I Deficiency
Failure to thrive, Diabetes mellitus, Hypoglycemia ORPHA:2609
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Hypoglycemia, Premature thelarche, Premature pubarche OMIM:616878
Glutaric Acidemia I
Failure to thrive, Hypoglycemia OMIM:231670
Glycogen Storage Disease Ib
Pancreatic fibrosis, Hypoglycemia, Hyperlipidemia, Xanthelasma, Delayed puberty OMIM:232220
Acute Radiation Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:454831
Hermansky-Pudlak Syndrome 8
Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transillumination defect, Generali... OMIM:614077
Crouzon Syndrome
Hypopigmented skin patches, Melanocytic nevus ORPHA:207
Sotos Syndrome
Sparse eyebrow, Cryptorchidism, Increased body weight, Glucose intolerance, Small nail, High ante... OMIM:117550
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia, Supernumerary nipple, Hypoplastic fifth toenail ORPHA:457279
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Hypoglycemia, Fine h... ORPHA:2710
Rothmund-Thomson Syndrome
Small for gestational age, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Reticular hyperpig... ORPHA:2909
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Generalized hypopigmentation, Iris transillumination defect, Decreased body weight OMIM:617306
Leigh Syndrome
Alopecia, Hypoglycemia, Abnormal thalamic MRI signal intensity, Frontal hirsutism, Failure to thr... ORPHA:506
Deeah Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:619004
Eec Syndrome
Slow-growing hair, Decreased response to growth hormone stimulation test, Sparse eyebrow, Nail pi... ORPHA:1896
Oculocerebral Hypopigmentation Syndrome, Preus Type
Generalized hypopigmentation, White hair, Ocular albinism, Iris hypopigmentation ORPHA:2720
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia OMIM:611126
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Bile duct proliferation, Hypoglycemia OMIM:618329
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia, Weight loss ORPHA:134
Xeroderma Pigmentosum, Complementation Group C
Freckling, Hypopigmentation of the skin OMIM:278720
Congenital Disorder Of Glycosylation, Type Iie
Failure to thrive, Low anterior hairline, Hypoglycemia, Hypertrichosis OMIM:608779
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Failure to thrive, Small for gestational age, Neonatal hypoglycemia, Hypoglycemia OMIM:619055
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia OMIM:229700
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoglycemia OMIM:620275
Mosaic Trisomy 8
Decreased testicular size, Cryptorchidism, Hypopigmentation of the skin, Hypopigmented skin patches ORPHA:96061
Koolen-De Vries Syndrome Due To A Point Mutation
Hypopigmentation of the skin, Alopecia, Fair hair, Slender build, Decreased response to growth ho... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypopigmentation of the skin, Alopecia, Fair hair, Slender build, Decreased response to growth ho... ORPHA:363958
Cystinosis, Nephropathic
Hypopigmentation of hair, Diabetes mellitus, Failure to thrive in infancy, Retinal pigment epithe... OMIM:219800
X-Linked Agammaglobulinemia
Alopecia, Failure to thrive, Hypopigmented skin patches, Weight loss ORPHA:47
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Fair hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone... OMIM:604292
Holoprosencephaly
Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Highly arched eyebrow, Cryptorchid... ORPHA:2162
Vici Syndrome
Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal thymus morphology, Failure to thriv... OMIM:242840
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Cryptorchidism, Low anterior hairline, Hypoglycemia OMIM:620224
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Neonatal hypoglycemia ORPHA:445038
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:96182
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoplastic toenails, Hypoglycemia, Nonketotic hypoglycemia OMIM:608836
Epidermal Nevus Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:35125
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Thyroiditis, Hypoglycemic seizures, Polycysti... ORPHA:79259
Cole Disease
Hyperglycemia OMIM:615522
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Small for gestational age, Fine hair, Cafe-au-lait spot, Sparse hair, W... OMIM:222470
Kabuki Syndrome 2
Highly arched eyebrow, Neonatal hypoglycemia, Long eyelashes, Decreased body weight, Hirsutism, S... OMIM:300867
Rothmund-Thomson Syndrome Type 2
Small for gestational age, Alopecia totalis, Cryptorchidism, Sparse or absent eyelashes, Aplasia/... ORPHA:221016
Mitochondrial Trifunctional Protein Deficiency 2
Hypoglycemia OMIM:620300
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Hypertriglyceridemia, Large clumps... ORPHA:167
Dilated Cardiomyopathy With Ataxia
Bilateral cryptorchidism, Hypothyroidism, Neonatal hypoglycemia ORPHA:66634
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Glycosuria OMIM:231680
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Highly arched eyebrow, Cryptor... OMIM:620305
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Fair hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone... OMIM:129900
Papillon-Lefèvre Syndrome
Abnormal fingernail morphology, Hypopigmented skin patches, Nail dystrophy, Abnormality of the na... ORPHA:678
Epidermodysplasia Verruciformis
Multiple cafe-au-lait spots, Hypopigmented skin patches ORPHA:302
Gapo Syndrome
Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Hypopigmented skin patches, Hypogonadism ORPHA:2067
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Small for gestational age, Hypoglycemia OMIM:617093
Oculocerebrocutaneous Syndrome
Cryptorchidism, Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches ORPHA:1647
Acrofrontofacionasal Dysostosis
Brushfield spots, Anonychia, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow ORPHA:1784
Localized Scleroderma
Abnormal skin adnexa morphology, Hypopigmented skin patches, Patchy alopecia, Hashimoto thyroidit... ORPHA:90289
Harrod Syndrome
Cryptorchidism, Failure to thrive, Hypopigmented skin patches ORPHA:2115
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Cryptorchidism, Low posterior hairline, Recurrent h... ORPHA:79324
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Increased circulating free fatty acid level, Overweight, Obesity, Hypo... ORPHA:26793
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Hypopigmented skin patches, Fine hair, Truncal obesity, Multiple cafe-au-lait... ORPHA:2637
Perlman Syndrome
Cryptorchidism, Pancreatic islet-cell hyperplasia, Hypoglycemia, Large for gestational age OMIM:267000
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia ORPHA:26791
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Neonatal hypoglycemia ORPHA:565624
Incontinentia Pigmenti
Alopecia, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morphology, Broad n... ORPHA:464
Immunodeficiency 59 And Hypoglycemia
High anterior hairline, Hypoglycemia OMIM:233600
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Albinism, Ocular albinism, Generalized hypopigmentation, Fair hair OMIM:608233
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hypoglycemia OMIM:619355
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... ORPHA:163746
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Failure to thrive, Neonatal hyp... OMIM:619418
Hartnup Disease
Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2116
Mismatch Repair Cancer Syndrome 1
Multiple cafe-au-lait spots, Axillary freckling, Hypopigmentation of the skin OMIM:276300
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Sparse scalp hair, Precocious puberty, Areas of hypopigmentation and hyperpigmentation that do no... OMIM:210720
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Glycosuria, Hypergl... ORPHA:99885
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia OMIM:251880
Necrotizing Enterocolitis
Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis ORPHA:391673
Intellectual Developmental Disorder, Autosomal Recessive 78
Hypopigmentation of the skin OMIM:620237
Beckwith-Wiedemann Syndrome
Adrenocortical cytomegaly, Hypoglycemia, Large for gestational age, Adrenocortical carcinoma, Cry... ORPHA:116
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia OMIM:201475
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hypoglycemia, Delayed puberty OMIM:232240
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia ORPHA:159
Curry-Jones Syndrome
Hypopigmented skin patches, Generalized hirsutism ORPHA:1553
Menkes Disease
Sparse hair, Woolly hair, Hypopigmentation of hair, Hypoglycemia ORPHA:565
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Failure to thrive ORPHA:99901
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Galloway-Mowat Syndrome 1
Hypopigmentation of the skin, Small for gestational age, Small nail OMIM:251300
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Fasting hypoglycemia, Glycosuria OMIM:227810
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Abnormal fingernail morphology, Decreased response to growth hormone stimulation test... ORPHA:444077
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hypoketotic hypoglycemia ORPHA:228305
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Mucolipidosis Ii Alpha/Beta
Brittle hair, Sparse eyebrow, Sparse hair, Failure to thrive, Hypopigmentation of the skin OMIM:252500
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot... ORPHA:293987
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Small for gestational age, Abnormal eyelas... OMIM:619488
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Small for gestational age, Hypoglycemia OMIM:614501
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Failure to thrive OMIM:124000
Short Stature With Microcephaly And Distinctive Facies
Sparse scalp hair, Small for gestational age, Sparse eyebrow, Spotty hypopigmentation, Decreased ... OMIM:615789
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Costello Syndrome
Deep-set nails, Curly hair, Hypoglycemia, Thin nail, Concave nail, Fragile nails, Sparse hair, Fa... OMIM:218040
Xeroderma Pigmentosum
Alopecia, Hypermelanotic macule, Cryptorchidism, Hypopigmented skin patches, Melanocytic nevus, H... ORPHA:910
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad eyebrow, Overweight, Synophrys, Obesity, Melanocytic nevus, Abnormality of skin pigmentatio... OMIM:619475
Pyruvate Carboxylase Deficiency
Hyperglycemia, Failure to thrive, Hypoglycemia ORPHA:3008
Tyrosinemia, Type I
Failure to thrive, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:276700
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Recurrent hypoglycemia, Failure to thrive, Hypoglycemia OMIM:256810
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia OMIM:615751
Hepatoerythropoietic Porphyria
Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski... ORPHA:95159
Carnitine Palmitoyltransferase Ii Deficiency
Hyperlipidemia, Hypoketotic hypoglycemia ORPHA:157
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pigmentary retinopathy, Failure to thrive, Hypoglycemia ORPHA:79282
Cholera
Hypoglycemia ORPHA:173
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Recurrent hypoglycemia, Weight loss ORPHA:20
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Hypopigmented skin patches ORPHA:2715
Focal Dermal Hypoplasia
Ridged nail, Linear hyperpigmentation, Brittle hair, Supernumerary nipple, Cryptorchidism, Reticu... OMIM:305600
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia OMIM:616271
Neurofibromatosis Type 1
Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnor... ORPHA:636
Shigellosis
Failure to thrive in infancy, Hypoglycemia ORPHA:810
Cowden Syndrome
Follicular thyroid carcinoma, Abnormality of the thyroid gland, Enlarged polycystic ovaries, Hypo... ORPHA:201
Infantile Krabbe Disease
Failure to thrive, Hypopigmented skin patches, Cachexia ORPHA:206436
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Hyperparathyroidism, Hypercholesterolemia, Cryptorchidism, Fine hair, Abnormal... ORPHA:534
Holoprosencephaly 1
Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia OMIM:236100
Diffuse Cutaneous Mastocytosis
Mixed hypo- and hyperpigmentation of the skin ORPHA:79456
Tetragametic Chimerism
Cryptorchidism, Abnormal testis morphology, Abnormality of the ovary, Hypopigmented skin patches ORPHA:199310
Pemphigus Erythematosus
Hypopigmented skin patches ORPHA:79480
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia ORPHA:572798
Histiocytoid Cardiomyopathy
Failure to thrive, Hypoglycemia, Polycystic ovaries ORPHA:137675
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Hypoglycemia ORPHA:17
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Steatorrhea ORPHA:440713
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia OMIM:617156
Dend Syndrome
Hyperglycemia ORPHA:79134
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyelashes, White eyebrow, Cryptorchidism, Hypopigmented skin patches, White forelock, Heter... OMIM:609136
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hyperlipidemia, Hypoketotic hypoglycemia ORPHA:228308
Simpson-Golabi-Behmel Syndrome
Hypoglycemia, Supernumerary nipple, Cryptorchidism, Pancreatic islet-cell hyperplasia, Nail dyspl... ORPHA:373
Sarcoidosis
Hypopigmentation of the skin, Alopecia, Hyperthyroidism, Diabetes insipidus, Parotitis, Enlarged ... ORPHA:797
Beckwith-Wiedemann Syndrome
Adrenocortical cytomegaly, Adrenocortical carcinoma, Pancreatic hyperplasia, Cryptorchidism, Neon... OMIM:130650
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Abdominal obesity, Hypoplasia of the ovary, Generalized hypopigmentation, Decreased tes... OMIM:619321
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Chromomycosis
Hypopigmented skin patches ORPHA:182
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Hypopigmented skin patches, Low posterior... ORPHA:233
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small for gestational age, Hypoglycemia, Bile duct proliferation, Failure to thrive, Slender build OMIM:613658
Spondyloenchondrodysplasia With Immune Dysregulation
Hypopigmented skin patches on arms, Hypothyroidism, Hypermelanotic macule, Vitiligo OMIM:607944
Mitochondrial Complex I Deficiency, Nuclear Type 1
Failure to thrive, Hypoglycemia OMIM:252010
Congenital Erythropoietic Porphyria
Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski... ORPHA:79277
Eosinophilic Granulomatosis With Polyangiitis
Hypopigmented skin patches, Weight loss ORPHA:183
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Small for gestational age, Hypoglycemia, Highly arched eyebrow, Low anterior hairline, Hyperglyce... OMIM:220111
Mosaic Trisomy 20
Cryptorchidism, Hypopigmented streaks, Depigmentation/hyperpigmentation of skin ORPHA:1724
Doors Syndrome
Adrenal hyperplasia, Abnormal fingernail morphology, Low anterior hairline, Congenital hypothyroi... ORPHA:79500
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Hereditary Acrokeratotic Poikiloderma
Hypopigmented skin patches, Nail dystrophy, Irregular hyperpigmentation, Dystrophic fingernails, ... ORPHA:2907
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Broad eyebrow, Large for gestational age, Sparse eyebrow, Slender build, Neonatal hypoglycemia ORPHA:457359
X-Linked Intellectual Disability, Nascimento Type
Lumbar hypertrichosis, Abnormal hair whorl, Synophrys, Patchy hypo- and hyperpigmentation, Crypto... ORPHA:163956
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Failure to thrive, Diabetes mellitus, Glycosuria, Hyperglycemia, Pancreatic h... OMIM:600001
Fructose Intolerance, Hereditary
Failure to thrive, Hypoglycemia, Glycosuria OMIM:229600
Fanconi Anemia
Cryptorchidism, Hypopigmented skin patches, Weight loss, Abnormality of skin pigmentation, Hypogo... ORPHA:84
Primary Fanconi Renotubular Syndrome
Glycosuria, Hypoglycemia, Weight loss ORPHA:3337
Pitt-Hopkins Syndrome
Cryptorchidism, Failure to thrive, Hypopigmented skin patches, Supernumerary nipple ORPHA:2896
Hereditary Fructose Intolerance
Reactive hypoglycemia ORPHA:469
Acute Liver Failure
Adrenal insufficiency, Hypoglycemia ORPHA:90062
Sotos Syndrome
Neonatal hypoglycemia, Sparse anterior scalp hair, Hypothyroidism, Cryptorchidism, Hydrocele test... ORPHA:821
Tetraamelia Syndrome 1
Adrenal gland agenesis OMIM:273395
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Abnormal testis morphology, Abnormal eyelash morphology, Hyp... ORPHA:2556
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Cryptorchidism, Obesity, Hypopigmented skin patches, Hypopla... ORPHA:567
Familial Tumoral Calcinosis
Hypopigmented skin patches ORPHA:53715
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis OMIM:236680
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Trichiasis, Nail dystrophy, Anonychia, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:95455
Systemic Sclerosis
Spotty hypopigmentation, Alopecia, Irregular hyperpigmentation, Nail bed telangiectasia ORPHA:90291
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Marburg Hemorrhagic Fever
Orchitis, Hypoglycemia ORPHA:99826
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
X-Linked Intellectual Disability, Snyder Type
Sparse eyebrow, Cryptorchidism, Synophrys, Patchy hypo- and hyperpigmentation, Abnormality of the... ORPHA:3063
3-Methylglutaconic Aciduria, Type Viii
Failure to thrive, Neonatal hypoglycemia OMIM:617248
African Trypanosomiasis
Alopecia, Abnormality of the endocrine system, Abnormality of renin-angiotensin system, Abnormal ... ORPHA:3385
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter... OMIM:601803
Kindler Syndrome
Ridged nail, Spotty hyperpigmentation, Spotty hypopigmentation OMIM:173650
Mend Syndrome
Cryptorchidism, Failure to thrive, Spotty hypopigmentation ORPHA:401973
Mend Syndrome
Cryptorchidism, Failure to thrive, Spotty hypopigmentation OMIM:300960
Scorpion Envenomation
Hyperglycemia, Glycosuria ORPHA:466677

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 Tbx19

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 Tbx19.

No publications found that use IMPC mice or data for Tbx19.

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MGI Allele Allele Type Produced
Tbx19tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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