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Gene: Bcat2 MGI:1276534

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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:
branched chain aminotransferase 2, mitochondrial
Synonyms:
Bcat-2,  Eca40

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 Bcat2 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 Bcat2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypervalinemia And Hyperleucine-Isoleucinemia
Hoffmann sign OMIM:618850

The table below shows human diseases predicted to be associated to Bcat2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II di... ORPHA:71529
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... ORPHA:99886
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyuria, Hyperglycemia, Polydipsia, Polyphagia OMIM:222100
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia ORPHA:329249
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the you... ORPHA:324575
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Glutaric Acidemia Type 3
Glutaric aciduria, Failure to thrive, Ketonuria, Lethargy ORPHA:35706
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Methylmalonyl-Coa Epimerase Deficiency
Failure to thrive, Ketonuria, Methylmalonic aciduria, Spasticity OMIM:251120
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Ketonuria, Small for gestational age, Glycosuria OMIM:618857
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Ketonuria, Cerebral palsy, Hyperglycinuria, Opisthotonus, Organic aciduria, Lethargy, F... OMIM:210210
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... ORPHA:276580
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia OMIM:605909
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas... ORPHA:369873
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ... OMIM:606528
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Babinski sign, Parkinsonism with fa... OMIM:128230
Autosomal Dominant Spastic Paraplegia Type 3
Lower limb spasticity, Rigidity, Babinski sign, Urinary urgency, Bradykinesia, Lower limb hyperto... ORPHA:100984
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Failure to thrive, Ketonuria, Glycosuria ORPHA:2089
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:613643
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Opisthotonus, Elevated urinary 3-methylcrotonylglycine level, Failure to thrive, 3-hyd... OMIM:210200
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Fast... ORPHA:276575
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Urinary urgency, Bradykine... OMIM:618418
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Hypercalcemia, Infantile, 1
Polyuria, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Weigh... OMIM:143880
Spinocerebellar Ataxia Type 20
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... ORPHA:98762
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Urinary urgency, Lower limb spasticity, Bradykinesia OMIM:618878
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia ORPHA:210571
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Basal Ganglia Calcification, Idiopathic, 1
Urinary incontinence, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykines... OMIM:213600
Hawkinsinuria
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Fine hair, Sparse hair, Failure ... ORPHA:2118
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent ... ORPHA:276556
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Decreased... ORPHA:314811
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Mody
Abnormality of the kidney, Large for gestational age, Overweight, Transient neonatal diabetes mel... ORPHA:552
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Spastic Paraplegia 78, Autosomal Recessive
Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia... OMIM:617225
Cerebral Creatine Deficiency Syndrome 3
Failure to thrive, Organic aciduria OMIM:612718
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Bradykinesia, Apr... ORPHA:240103
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:600116
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... OMIM:619468
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... OMIM:613135
Ichthyosis, Split Hairs, And Amino Aciduria
Abnormal hair morphology, Aminoaciduria OMIM:242550
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Dysdiadochokinesis, Slurred speech, Bradykinesia OMIM:609161
Dystonia 16
Postural tremor, Involuntary movements, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Retr... OMIM:612067
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Large for gestational age, Aminoaciduria, Small nail, Failure to thrive OMIM:614520
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Chorea, Ataxia OMIM:618683
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Bradykinesia, Apraxia, Spasticity, Action ... OMIM:300423
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Parkinsonism with favo... ORPHA:314632
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia ORPHA:228169
Spinocerebellar Ataxia 17
Ataxia, Urinary incontinence, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia... OMIM:607136
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Hypogonadism, Micropenis, Polyphagia OMIM:614962
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Babinski sign, Lacticaciduria OMIM:619063
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor OMIM:606438
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Bradykinesia, Abnormal pyramidal sign, Spastic gait, Spastic tetraparesis OMIM:619052
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Bradykinesia ORPHA:306686
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Obesity OMIM:620195
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Spasticity, L... OMIM:615528
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... ORPHA:171706
Juvenile Huntington Disease
Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Bradykinesia, Progressive cerebellar ataxia, ... ORPHA:248111
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Spasticity ORPHA:521406
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Ataxia, Babinski sign, Gait ataxia, Elevated urine acetoacetic acid level, 3-Methylglutaconic aci... OMIM:620089
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia OMIM:618824
Parkinson Disease 22, Autosomal Dominant
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:616710
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Glutaric Acidemia I
Ketonuria, Rigidity, Glutaric aciduria, Spastic diplegia, Opisthotonus, Choreoathetosis, Failure ... OMIM:231670
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... OMIM:606407
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Resting tremor, Bradykinesia, Parkinsonism ORPHA:306692
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, Bradykinesia OMIM:618317
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... ORPHA:101150
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Saccharopinuria
Citrullinuria, Histidinuria, Saccharopinuria, Spastic diplegia, Hyperlysinuria OMIM:268700
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Lacticaciduria, Elevated urine acetoacetic aci... OMIM:615751
Dystonia 12
Tremor, Torticollis, Bradykinesia, Parkinsonism OMIM:128235
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechoge... OMIM:613845
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Hawkinsinuria
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Hawkinsinuria,... OMIM:140350
Stimmler Syndrome
Aminoaciduria, Abnormal dental enamel morphology, Type II diabetes mellitus ORPHA:3199
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Richards-Rundle Syndrome
Hypertonia, Ketonuria, Ataxia ORPHA:1399
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Polyuria, Proximal tubulopathy, Type I diabetes mellitus, Failure to thrive OMIM:560000
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... OMIM:261640
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... ORPHA:280365
Spinocerebellar Ataxia 10
Incoordination, Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ata... OMIM:603516
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia ORPHA:71517
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Failure to thrive, Abnormal fingernail morphology ORPHA:2278
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia, Nephrolithiasis, Cystinuria ORPHA:163690
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... OMIM:239200
Hypercalcemia, Infantile, 2
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary... OMIM:616963
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Methylmalonic Aciduria, Cbla Type
Ketonuria, Elevated urine 3-hydroxypropionic acid level, Tremor, Methylmalonic aciduria, Elevated... OMIM:251100
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Huntington Disease
Rigidity, Chorea, Bradykinesia, Gait ataxia OMIM:143100
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Corticobasal Syndrome
Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apraxia, Brad... ORPHA:454887
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Limb myoclonus OMIM:619862
Monocarboxylate Transporter 1 Deficiency
Ketonuria OMIM:616095
Infantile Dystonia-Parkinsonism
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp... ORPHA:238455
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Senior-Loken Syndrome 4
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Spinocerebellar Ataxia 2
Ataxia, Parkinsonism, Urinary incontinence, Postural tremor, Rigidity, Babinski sign, Dysmetria, ... OMIM:183090
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria OMIM:222690
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... OMIM:227810
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Ataxia, Lacticaciduria, Myoclonus, Neonatal death OMIM:619167
Hypertryptophanemia
Camptodactyly of finger, Aggressive behavior, Hypersexuality, Tryptophanuria, Increased serum ser... OMIM:600627
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Bradykinesia, Ataxia, Rigidity OMIM:617836
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... ORPHA:35878
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Obesity, Sparse body hair, Micropenis ORPHA:85274
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Weight los... ORPHA:157941
Oliver-Mcfarlane Syndrome
Alopecia, Hypoplasia of penis, Small for gestational age, Long eyebrows, Long eyelashes, Sparse hair OMIM:275400
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
3-Methylglutaconic Aciduria Type 1
3-Methylglutaconic aciduria, Failure to thrive, Hypoglycemia, Hepatomegaly ORPHA:67046
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia ORPHA:240085
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... OMIM:601820
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Progressive spastic quadriplegia, Dec... ORPHA:2985
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Ataxia, Long eyelashes, Sparse hair, Micropenis ORPHA:3363
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Hemiparesis, Parkinsonism, Bradykinesia ORPHA:306669
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Tremor, Rigidity, Bradykinesia, Limb hypertonia ORPHA:70594
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Bradykinesia, Hypertonia, Parkinsonism, Limb hypertonia OMIM:617384
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, Gait apraxia, Dysmetr... OMIM:615157
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Parkinsonism, Rigidity, Bradykinesia, Apraxia, Spasticity OMIM:221820
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Blepharospasm, Bradykinesia, Parkinsonism with favorab... OMIM:606324
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Ataxia, Dysmetria, Gait ataxia, Urinary urgency, Hemiparesis, Bradykinesia, Trunc... OMIM:601338
Methylmalonic Aciduria, Cblb Type
Lethargy, Failure to thrive, Ketonuria, Methylmalonic aciduria OMIM:251110
Leber Optic Atrophy And Dystonia
Bradykinesia, Athetosis, Spasticity, Upper motor neuron dysfunction OMIM:500001
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosph... ORPHA:417
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Hypoglycemia, Hyperlipidemia, Nephrolithiasis, Xanthelasma, Focal segm... OMIM:232200
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Bardet-Biedl Syndrome 9
Renal insufficiency, Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia OMIM:615986
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Polydipsia, Decreased circulat... OMIM:613677
Trichothiodystrophy 9, Nonphotosensitive
Ataxia, Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding OMIM:619692
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, H... OMIM:232700
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Dicarboxylic a... OMIM:619355
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... OMIM:602522
Bardet-Biedl Syndrome 17
Polyuria, Obesity, Renal cyst, Micropenis, Stage 5 chronic kidney disease, Hypogonadism, Polydipsia OMIM:615994
Autism, Susceptibility To, 3
Ketonuria OMIM:608049
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Bradykinesia, Spastic tetraplegia, Spastic paraparesis OMIM:615643
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hyperaldosteronism, Increased circulating r... OMIM:612780
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Hypoglycemia, Anorexia, Lacticaciduria, Aminoaciduria, Adrenal insufficiency OMIM:619386
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ... ORPHA:276608
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Obesity, Spastic... OMIM:300055
Iminoglycinuria
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:242600
Huntington Disease
Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Weight loss, Bradykin... ORPHA:399
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urinary potassium,... OMIM:613090
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradykinesia, Myoclonus, T... OMIM:137440
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Lopes-Maciel-Rodan Syndrome
Tremor, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Spasticity OMIM:617435
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Urinary incontinence, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetos... OMIM:618877
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Long pen... ORPHA:508
Hyperprolinemia, Type Ii
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:239510
Machado-Joseph Disease
Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Limb ataxia, Bradyk... OMIM:109150
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis, Polydipsia, Failure to thrive, Diabetes insipidus OMIM:304800
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia OMIM:222730
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Ketonuria, Ataxia, Clonus, Incoordination, Involuntary movements, Babinski sign, Hypertonia, Abno... ORPHA:480864
Moynahan Syndrome
Sparse hair, Alopecia, Cachexia ORPHA:2574
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Nephrogenic diabetes insipidus, Megacystis, Polydipsia, Failure to thrive OMIM:125800
Galactokinase Deficiency
Hepatomegaly, Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsul... ORPHA:79237
Gitelman Syndrome
Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Chondrocalcinosis, Increased circulati... OMIM:263800
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney OMIM:615285
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Obesity... ORPHA:251004
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... ORPHA:1818
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:606721
Cln3 Disease
Extrapyramidal muscular rigidity, Ataxia, Bradykinesia, Urinary bladder sphincter dysfunction, Hi... ORPHA:228346
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Beta-Ketothiolase Deficiency
Ketonuria, Ataxia, Weight loss, Extrapyramidal dyskinesia, Spasticity ORPHA:134
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Large for gestational age, Umbilical hernia, Nephroblastoma, Enlarged kidney OMIM:618272
Mitochondrial Membrane Protein-Associated Neurodegeneration
Parkinsonism, Urinary incontinence, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Spastic p... ORPHA:289560
Cystinosis
Renal insufficiency, Proteinuria, Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms,... ORPHA:213
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Hyperk... ORPHA:13
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... OMIM:618314
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Ataxia, Clonus, Poor coordination, Spastic tetraplegia, Spastic diplegia, Gait ataxia,... OMIM:616878
Crandall Syndrome
Alopecia, Hypoplasia of penis, Brittle hair, Fine hair, Sparse body hair, Pili torti, Aplasia/Hyp... ORPHA:202
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H... OMIM:262400
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Hepatomegaly, Hypoglycemia OMIM:615158
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Sparse hair, Widow's peak, Thick eyebrow OMIM:606242
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnormal repe... OMIM:239500
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Ataxia, Fine hair ORPHA:1174
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Ataxia, Spastic hemiparesis, Weight loss, 3-Methylglutaric aciduria, Myoclonus, Lethar... ORPHA:20
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria, Spasticity OMIM:251900
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... OMIM:608594
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Urinary incontinence, Action tremor, Dysmetria, Ga... OMIM:300623
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolera... ORPHA:2088
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:604367
Multiple System Atrophy
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... ORPHA:102
Isolated Permanent Neonatal Diabetes Mellitus
Apraxia, Failure to thrive, Ketonuria, Ataxia, Abnormality of the upper urinary tract, Weight los... ORPHA:99885
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Nonketotic hypoglycemia, Hypoglycemia... OMIM:608836
Preeclampsia
Increased body mass index, Small for gestational age, Abnormality of the kidney, Proteinuria, Chr... ORPHA:275555
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Hypoglycemia, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Xanthelas... OMIM:232220
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Aredyld
Generalized hypotrichosis OMIM:207780
Solitary Fibrous Tumor
Hypoglycemia, Weight loss, Recurrent hypoglycemia, Urinary retention, Hypoinsulinemia ORPHA:2126
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair ORPHA:401911
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Intenti... OMIM:619725
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Failure to thrive, Ketonuria OMIM:615453
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... ORPHA:391411
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia OMIM:619911
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Small for gestational age, Polyuria, Renal salt wasting, Increased urinary pota... OMIM:241200
2P21 Microdeletion Syndrome
Hypoglycemia, Nephrolithiasis, Cystinuria, Hypogonadism, Failure to thrive ORPHA:163693
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Renal hypoplasia OMIM:619053
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Bardet-Biedl Syndrome 22
Polyphagia, Hypogonadism, Obesity, Large for gestational age OMIM:617119
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Small for gestational age, Polyuria, Renal salt wasting, I... OMIM:601678
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... OMIM:606159
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Large for gestational age ORPHA:79644
H Syndrome
Hypertriglyceridemia, Diabetes mellitus, Abnormality of the kidney, Lipodystrophy, Hepatosplenome... ORPHA:168569
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia ORPHA:36387
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Cogwheel rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... ORPHA:254886
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Myoclonus, Progressive extrapyr... ORPHA:53351
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia ORPHA:79084
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... ORPHA:98933
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... ORPHA:363400
Spinocerebellar Ataxia Type 1
Postural tremor, Chorea, Slurred speech, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, ... ORPHA:98755
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Dravet Syndrome
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... ORPHA:33069
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Hypogonadism, Skin-picki... OMIM:615547
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... OMIM:617872
14Q11.2 Microduplication Syndrome
Aggressive behavior, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Polyphagia ORPHA:261229
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive, Sparse body hair ORPHA:261483
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Reduced i... OMIM:269700
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious puberty, Abnor... OMIM:614736
Multiple System Atrophy, Cerebellar Type
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Limb ataxia, Ga... ORPHA:227510
Galactosemia Iii
Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Failure to thrive OMIM:230350
Hyper-Beta-Alaninemia
Increased urinary taurine, Failure to thrive OMIM:237400
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Proteinuria, Nephrogenic diabetes insipidus, Nephrocalcinosis, Renal tubular acidos... OMIM:613404
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Myoclonus... OMIM:617854
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Urocanase Deficiency
Ataxia, Urocanic aciduria, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Hypoglycemia, Splenomegaly, Nephrocalcinosis... OMIM:276700
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora... OMIM:311510
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Proteinuria, Large for gestational age, Hyperinsulinemia, Increased body weight, Gl... ORPHA:263455
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Proteinuria, Abnormality of the kidney, Hypoglycemia, Hyperlipidemia, Delayed puber... ORPHA:369
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair OMIM:129490
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Urinary incontinence, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxi... ORPHA:225147
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... ORPHA:791
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... OMIM:224750
Childhood-Onset Nemaline Myopathy
Bradykinesia, Poor fine motor coordination, Slender build, Clumsiness ORPHA:171439
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Renal steatosis OMIM:261680
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Argininosuccinic Aciduria
Abnormal hair quantity, Ataxia, Aminoaciduria, Oroticaciduria, Trichorrhexis nodosa ORPHA:23
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Large for gestatio... OMIM:616026
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Hyperlipidemia, Thyroiditis, Stage... ORPHA:79259
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Ataxia, Hemolytic-uremic syndrome, Methylmalonic ... ORPHA:79282
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, Slowed slurred speech, Nephrolithiasis OMIM:619827
Hypermanganesemia With Dystonia 1
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality of extrap... OMIM:613280
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence, ... ORPHA:466722
Heyn-Sproul-Jackson Syndrome
Sparse hair, Decreased body weight OMIM:618724
Spinocerebellar Ataxia Type 13
Torticollis, Urinary incontinence, Limb ataxia, Clumsiness, Urinary urgency, Titubation, Gait ata... ORPHA:98768
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow ORPHA:79133
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail ORPHA:2251
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Aminoaciduria, Weight loss ORPHA:79238
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Spastic tetraparesis, Lacticaciduria, Hypergly... OMIM:605711
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98793
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... OMIM:619902
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Perry Syndrome
Parkinsonism, Tremor, Rigidity, Weight loss, Bradykinesia OMIM:168605
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
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
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
Adult-Onset Nemaline Myopathy
Bradykinesia, Poor fine motor coordination ORPHA:171442
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... OMIM:616033
Camptodactyly-Taurinuria Syndrome
Increased urinary taurine, Aminoaciduria ORPHA:1325
Trichothiodystrophy 8, Nonphotosensitive
Sparse eyebrow, Head titubation, Babinski sign, Spastic diplegia, Ankle clonus, Sparse hair, Wool... OMIM:619691
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair OMIM:618625
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Hypermanganesemia With Dystonia 2
Parkinsonism, Tremor, Babinski sign, Scissor gait, Clumsiness, Opisthotonus, Ankle clonus, Bradyk... OMIM:617013
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Head titubation, Dysmetria, Aminoaciduria, Myoclonus, Truncal ataxia, Lethargy, Failure t... OMIM:250620
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert... ORPHA:398079
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Failure to thrive OMIM:236795
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Focal Facial Dermal Dysplasia 3, Setleis Type
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes OMIM:227260
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... OMIM:613102
Parkinsonian-Pyramidal Syndrome
Neurogenic bladder, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia,... ORPHA:171695
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Cachexia, Methylmalonic aciduria, Aminoaciduria, Generalized hirsutism ORPHA:1933
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... ORPHA:94086
Spinocerebellar Ataxia Type 8
Ataxia, Urinary incontinence, Rigidity, Limb ataxia, Gait ataxia, Spastic dysarthria, Bradykinesi... ORPHA:98760
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Lipodystrop... ORPHA:528
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... ORPHA:567548
Intellectual Developmental Disorder, Autosomal Dominant 39
Self-mutilation, Polyphagia, Obesity, Aggressive behavior OMIM:616521
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive OMIM:612075
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowed slurred speech... ORPHA:240071
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoaciduria OMIM:234500
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ... OMIM:612953
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Bradykinesia, Truncal ataxia, In... OMIM:258450
Iminoglycinuria
Hydroxyprolinuria, Hyperglycinuria, Prolinuria ORPHA:42062
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Camptodactyly 1
Increased urinary taurine, Camptodactyly of finger OMIM:114200
Tiglic Acidemia
Aminoaciduria OMIM:275190
Primary Progressive Freezing Gait
Postural tremor, Urinary incontinence, Clonus, Rigidity, Babinski sign, Bradykinesia, Frequent falls ORPHA:75567
Renal Hypoplasia, Bilateral
Small for gestational age, Proteinuria, Microscopic hematuria, Chronic kidney disease, Renal hypo... ORPHA:97362
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... OMIM:612736
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Impulsivity, Precocious puberty, F... ORPHA:398069
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
3-Methylcrotonyl-Coa Carboxylase Deficiency
Spasticity, Organic aciduria, Failure to thrive in infancy ORPHA:6
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Rigidity, Tremor, Urinary urgency, Bradykinesia OMIM:168600
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Bradykinesia, Parkinsonism ORPHA:412066
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:151660
Familial Renal Glucosuria
Recurrent urinary tract infections, Insulin resistance, Abnormal circulating insulin concentratio... ORPHA:69076
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradyki... ORPHA:98808
Tenorio Syndrome
Enuresis, Hypoglycemia, Hypoinsulinemia OMIM:616260
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Inappropriate laughter, Obesity ORPHA:411515
Encephalopathy Due To Sulfite Oxidase Deficiency
Ataxia, Spastic tetraparesis, Hemiplegia/hemiparesis, Aminoaciduria, Spasticity ORPHA:833
Postencephalitic Parkinsonism
Resting tremor, Involuntary movements, Rigidity, Babinski sign, Abnormal pyramidal sign, Cogwheel... ORPHA:97349
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Helix Syndrome
Renal insufficiency, Hyperparathyroidism, Polyuria, Nephrolithiasis, Hypocalciuria, Polydipsia OMIM:617671
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesangial hypercell... OMIM:617575
Pediatric-Onset Graves Disease
Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with dif... ORPHA:525731
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Hypospadias, Small for gestational age, Highly arched eyebrow, Ataxia, Tremor, Low ant... OMIM:220111
Trichohepatoenteric Syndrome 2
Brittle hair, Small for gestational age, Uncombable hair, Sparse hair, Woolly hair, Failure to th... OMIM:614602
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Rigidity, Spastic/hyperactive bladder, Weight loss, Bradykinesia, P... ORPHA:411602
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... OMIM:602400
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... ORPHA:2890
Lipoyltransferase 1 Deficiency
Spastic tetraparesis, Lacticaciduria, Alaninuria, Abnormality of extrapyramidal motor function, H... OMIM:616299
Phenylketonuria
Aminoaciduria ORPHA:716
Bartter Syndrome, Type 5, Antenatal, Transient
Hypercalciuria, Medullary nephrocalcinosis, Increased circulating renin level, Polyuria OMIM:300971
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Femoral hernia, Hyperinsulinemia, Nephroblastoma ORPHA:2849
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone concentration, H... OMIM:618183
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair OMIM:618535
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia ORPHA:240094
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Flexion contracture, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylgluta... OMIM:604273
Manganese Poisoning
Postural tremor, Cogwheel rigidity, Bradykinesia, Hypertonia, Abnormality of extrapyramidal motor... ORPHA:306682
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Flexion contracture, Nephrotic syndrome, Focal segmental... OMIM:617303
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, V... ORPHA:116
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hypoglycemia ORPHA:664
6Q16 Microdeletion Syndrome
Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Sparse facial hair, Absent facial hair, Low posterior hairline ORPHA:2183
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Abnormal repetitive mannerisms, Self-injurious behavior, Poly... ORPHA:228402
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Renal steatosis, Hypoglycemia OMIM:261650
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Riboflavin Deficiency
Dicarboxylic aciduria, Hypoglycemia, Hypothermia OMIM:615026
Methionine Malabsorption Syndrome
Aminoaciduria, White hair OMIM:250900
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Neonatal hypoglycemia, Cardiomegaly, Adreno... OMIM:130650
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Myoclonus OMIM:168601
Urocanic Aciduria
Ataxia, Urocanic aciduria, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Aminoaciduria, Hypoplastic nipples, Small nail OMIM:273400
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Pancreatic islet-cell hype... OMIM:246200
Caribbean Parkinsonism
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... ORPHA:97355
Intellectual Developmental Disorder, Autosomal Recessive 5
Small for gestational age, Synophrys, Hypertonia, Sparse hair, Spasticity, Thick eyebrow OMIM:611091
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Diabetes mellitus OMIM:249270
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Increased urinary glycerol, Ketonuria, Failure to thrive in infancy ORPHA:247598
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... OMIM:300555
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Polyuria OMIM:620152
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair ORPHA:79402
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... OMIM:243910
Holocarboxylase Synthetase Deficiency
Alopecia, Ataxia, Weight loss, Organic aciduria, Lethargy ORPHA:79242
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Microscopic hematuria, Chronic kidney disease, Elevated circula... ORPHA:411634
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Babinski sign, Urinary urgency, Bra... OMIM:146500
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Abnorma... ORPHA:449395
Filippi Syndrome
Sparse hair, Frontal hirsutism, Decreased body weight, Hypertrichosis OMIM:272440
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy, Steatorrhea, Hyperinsulinemic hypoglycemia, Failu... OMIM:602579
Diaphanospondylodysostosis
Inguinal hernia, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia,... OMIM:608022
Galactosemia I
Hepatomegaly, Hypergonadotropic hypogonadism, Albuminuria, Aminoaciduria, Galactosuria, Increased... OMIM:230400
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Ataxia, Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow OMIM:616819
Acquired Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Insulin-resistant diabetes mellitus, Insulin res... ORPHA:79086
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Ataxia, Nail dystrophy, Sparse hair, Failure to thrive OMIM:616353
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... OMIM:604536
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggressive beh... ORPHA:293987
Neuroferritinopathy
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk... ORPHA:157846
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Highly arched eyebrow, Abnormality of the upper urinary tract, Abnormal h... ORPHA:1807
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:1006
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Laron Syndrome
Hypoplasia of penis, Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed ... ORPHA:633
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Kinetic tremor, Renal hypoplasia, Gait ataxia, Fine hair, Truncal atax... OMIM:616817
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Small for gestational age, Sparse facial hair, Sparse axillary hair, Failure to thrive, Slender b... OMIM:608154
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... OMIM:614723
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ... OMIM:614105
Carnosinemia
Carnosinuria OMIM:212200
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia, 2-ethylhydracylic aciduria OMIM:610006
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Increased circulating free fatty acid level, Fasting hyperinsulinemia, Hyp... ORPHA:71212
Progeroid Syndrome, Petty Type
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... ORPHA:2963
Scorpion Envenomation
Hemifacial spasm, Ketonuria, Ataxia, Tremor, Hyperkinetic movements, Myoclonus, Glycosuria, Acute... ORPHA:466677
Congenital Short Bowel Syndrome
Sparse hair, Displacement of the urethral meatus ORPHA:2301
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Dermoodontodysplasia
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair ORPHA:1660
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... ORPHA:739
5-Oxoprolinase Deficiency
Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis OMIM:260005
Lymphoid Interstitial Pneumonia
Hepatomegaly, Weight loss, Abnormality of connective tissue, Failure to thrive, Enlarged kidney ORPHA:79128
D-Glyceric Aciduria
Hypoglycemia, Tongue thrusting, Aminoaciduria, Micropenis, Failure to thrive OMIM:220120
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Secondary Short Bowel Syndrome
Weight loss, Central hypothyroidism, Primary hypothyroidism, Steatorrhea, Failure to thrive, Poly... ORPHA:95427
Mitochondrial Dna Depletion Syndrome 18
Tongue fasciculations, Failure to thrive, Lacticaciduria, Clonus OMIM:618811
Hydroxykynureninuria
Aminoaciduria OMIM:236800
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Elevated urinary formiminoglutamic acid level OMIM:229100
Hereditary Mucoepithelial Dysplasia
Alopecia, Fine hair, Hematuria, Abnormality of the bladder, Sparse hair ORPHA:1839
Histidinuria-Renal Tubular Defect Syndrome
Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia ORPHA:2158
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Ataxia, Oculomotor apraxia, Dysmetria, Sparse hair, Spasticity, Hirsutism, Limb hypertonia OMIM:618087
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Small for gestational age, Nephrogenic diabetes insipidus, Nephrocalcinosis, Renal tubular acidos... OMIM:208085
Neurodegeneration With Brain Iron Accumulation 2B
Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Hypertonia, Spas... OMIM:610217
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Pollakisuria, Urinary bladd... ORPHA:93256
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Sparse eyebrow, Micropenis, Gait ataxia, Reduced hair sulfur con... OMIM:300953
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Hypothermia, Lacticaciduria, Methylmalonic aciduria, Failure to thrive OMIM:245400
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Tremor, Dysdiadochokinesis, Elevated urinary homovanillic acid OMIM:618049
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Abnormal fingernail morphology, Sparse body hair ORPHA:1810
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Wagro Syndrome
Proteinuria, Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Nephroblastoma, Polyp... OMIM:612469
Alstrom Syndrome
Hepatomegaly, Renal insufficiency, Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decrease... OMIM:203800
Jaberi-Elahi Syndrome
Appendicular spasticity, Brittle hair, Sparse eyelashes, Sparse eyebrow, Tremor, Dysmetria, Fine ... OMIM:617988
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hypothermia, Insulin resistance, Elevated urinary dopamine level, Elevated circulat... ORPHA:230
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Hyperactivity, Increased level of gamma-aminobutyric acid... OMIM:271980
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Parkinsonism, Rigidity, Slurred speech, Hand tremor, Gait ataxia, Bradykinesia, P... OMIM:157640
Homocarnosinosis
Carnosinuria OMIM:236130
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Insulin resistance, Flexion cont... OMIM:613327
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Salt craving, Renal insufficiency, Hypoglycemia, Adrenal hy... ORPHA:95409
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Gracile Syndrome
Aminoaciduria OMIM:603358
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... ORPHA:436271
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Organic aciduria OMIM:617184
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Ataxia, Tremor, Rigidity, Gait ataxia, Cogwheel rigidity, Bradykinesia, Hypertoni... ORPHA:254892
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Gand Syndrome
Sparse hair OMIM:615074
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal tubulointerstitial morphology, Ren... ORPHA:411629
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Recurrent urinary tract infections, Decreased response to growth hormone stimulati... OMIM:615873
Argininosuccinic Aciduria
Dry hair, Brittle hair, Failure to thrive, Ataxia, Aminoaciduria, Lethargy, Oroticaciduria, Trich... OMIM:207900
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile, Dysphagia ORPHA:391417
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:248370
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis, ... OMIM:204690
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair, Cerebral palsy, Failure to thrive, Appendicular spasticity OMIM:620001
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:300942
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Cronkhite-Canada Syndrome
Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Dystrophic toenail, Pat... ORPHA:2930
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Hypoglycemia, Renal salt wasting, Adrenogenital syndrome OMIM:201910
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Flexion contracture, Hepatosplenomegaly, Nephrot... ORPHA:505248
Even-Plus Syndrome
Recurrent urinary tract infections, Highly arched eyebrow, Synophrys, Renal hypoplasia, Sparse ha... OMIM:616854
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Ataxia ORPHA:33574
Progressive Supranuclear Palsy
Tremor, Rigidity, Blepharospasm, Bradykinesia ORPHA:683
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria OMIM:255100
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal tubular a... ORPHA:47159
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Failure to thrive, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Nicolaides-Baraitser Syndrome
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair ORPHA:3051
Holocarboxylase Synthetase Deficiency
Alopecia, Hypertonia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxy... OMIM:253270
Bazex-Dupre-Christol Syndrome
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa OMIM:301845
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Atypical Werner Syndrome
Renal neoplasm, Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Lipoatrophy, Abnormal... ORPHA:79474
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... OMIM:234050
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Dicarboxylic aciduria, Hypothermia, Oliguria, Fasting hypoglycemia, Hypoketotic hyp... ORPHA:159
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
Aapoaiv Amyloidosis
Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep... ORPHA:439232
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Hypospadias, Abnormal hair whorl, Sparse hair, Micropenis ORPHA:2872
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... OMIM:220110
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria OMIM:619003
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia... OMIM:194080
Combined Oxidative Phosphorylation Deficiency 12
Bradykinesia, Babinski sign, Failure to thrive, Spastic tetraparesis OMIM:614924
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Inguinal hernia, Unilateral renal agenesis, Umbilical hernia, Enlarged kidney OMIM:618188
Angelman Syndrome
Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel... ORPHA:72
Acute Monoblastic/Monocytic Leukemia
Weight loss, Oliguria, Anorexia, Central hypothyroidism ORPHA:514
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Sparse body hair, Obesity ORPHA:2234
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Ataxia, Elevated urinary dopamine level, Abnormality of uri... OMIM:256700
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Generalized aminoaciduria ORPHA:882
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair ORPHA:59303
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:615530
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Ectopic kidney, Sparse eyebrow, Abnormal hair morphology, Fi... ORPHA:634
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Leigh Syndrome
Chorea, Choreoathetosis, Complex organic aciduria, Frontal hirsutism, Alopecia, Ataxia, Renal tub... ORPHA:506
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Fanconi Anemia, Complementation Group S
Ataxia, Low anterior hairline, Long eyelashes, Sparse hair, Failure to thrive OMIM:617883
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Small for gestational age, Sparse body hair OMIM:300869
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair OMIM:613576
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Babinski sign, Abno... OMIM:234200
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Camptodactyly, ... OMIM:252500
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Adrenal cal... ORPHA:85138
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose ... ORPHA:769
Menkes Disease
Alopecia, Brittle hair, Babinski sign, Hypertonia, Sparse hair OMIM:309400
Hypouricemia, Renal, 1
Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tubular epithelia... OMIM:220150
Sulfite Oxidase Deficiency, Isolated
Sulfocysteinuria, Decreased urinary sulfate, Agitation, Increased urinary sulfite level OMIM:272300
Blepharocheilodontic Syndrome 1
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis OMIM:119580
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, P... OMIM:231680
Joubert Syndrome 37
Oculomotor apraxia, Obesity, Sparse hair, Micropenis, Hydronephrosis OMIM:619185
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair OMIM:273390
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Oligomeganephronia
Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal agenesis, Congenita... ORPHA:2260
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Young-Onset Parkinson Disease
Tremor, Spasticity, Rigidity, Bradykinesia ORPHA:2828
Rett Syndrome
Bradykinesia, Failure to thrive, Limb apraxia ORPHA:778
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Increased level of hippuric acid in urine, Glutaric aciduria, 3-Methylglutaric aciduria, Organic ... OMIM:246450
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Kufor-Rakeb Syndrome
Eyelid apraxia, Urinary incontinence, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal s... ORPHA:306674
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Abn... ORPHA:79233
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Aciduria OMIM:617950
Cerebrooculofacioskeletal Syndrome 2
Sparse hair, Micropenis, Small for gestational age OMIM:610756
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoplasia of penis, Hypoglycemia, Adrenal hypopl... ORPHA:95496
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Ogden Syndrome
Global glomerulosclerosis, Inguinal hernia, Maternal diabetes, Cardiomegaly, Polycystic kidney dy... OMIM:300855
Alg9-Cdg
Omphalocele, Hypoplasia of the bladder, Hepatomegaly, Lipodystrophy, Ureteral hypoplasia, Hypopla... ORPHA:79328
19Q13.11 Microdeletion Syndrome
Hypospadias, Supernumerary nipple, Cachexia, Fine hair, Sparse or absent eyelashes, Nail dysplasi... ORPHA:217346
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Aggressive behavior, Prol... ORPHA:79101
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria OMIM:609560
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair, Spasticity, Hypospadias, Small for gestational age OMIM:618253
Brown-Vialetto-Van Laere Syndrome 2
Organic aciduria, Ataxia, Tongue fasciculations, Clumsiness OMIM:614707
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Elbow hypertrichosis, Ataxia, Obesity, Organic aciduria, Long eyelashes OMIM:620191
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Small for gestational age, Synophrys, Low anterior hairline, Fine hair, Decreased body weight, Sp... ORPHA:391408
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Idiopathic Congenital Hypothyroidism
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... ORPHA:95717
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Synophrys, Low posterior hairline, Clumsiness, Thin eyebrow, Sparse hair OMIM:619320
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Coarse hair, Brittle hair ORPHA:1883
Endocrine-Cerebroosteodysplasia
Hypospadias, Adrenal hypoplasia, Microphallus, Hyperechogenic kidneys, Enlarged kidney OMIM:612651
Xp22.13P22.2 Duplication Syndrome
Sparse hair, Truncal obesity, High anterior hairline, Slowed slurred speech ORPHA:284180
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria ORPHA:79246
Anauxetic Dysplasia 2
Sparse hair, Nail dysplasia, Small nail OMIM:617396
Dermotrichic Syndrome
Aminoaciduria, Nail dystrophy, Hyperconvex toenail ORPHA:99688
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Hypoglycemia, Aminoaciduria, Failure to thrive, Neonatal hypoglycemia OMIM:619055
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Increased level of L-pyroglutamic acid in urine OMIM:231900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria ORPHA:147
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia... OMIM:208540
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia OMIM:242300
Cystathioninuria
Cystathioninuria, Nephrolithiasis ORPHA:212
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Sparse eyebrow OMIM:619989
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia, Large for gestational age, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic... OMIM:614941
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse hair, Failure to thrive ORPHA:2316
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Abnormality of the kidney, Maturity-onset diabetes of the young, ... OMIM:137920
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Hypospadias, Inguinal hernia, Unilateral renal agenesis, Aggressive... ORPHA:96121
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Small for gestational age, Fine hair, Fragile nails, Nail dystrophy,... OMIM:601675
Mpi-Cdg
Hepatomegaly, Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Rapp-Hodgkin Syndrome
Sparse eyelashes, Hypospadias, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Fine hair... OMIM:129400
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Enlarged kidney, Cardiomegaly OMIM:261740
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Synophrys, Abnormality of the ureter, Dystrophic toenail, Nail d... ORPHA:3253
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, Stage 5 chronic ... ORPHA:731
Tetrasomy 12P
Sparse hair, Cachexia, Sparse eyebrow ORPHA:884
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Hypothermia, Pituitary hypothyroi... ORPHA:90674
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hyperto... ORPHA:309854
Luscan-Lumish Syndrome
Polyphagia, Obesity, Aggressive behavior OMIM:616831
Intellectual Developmental Disorder, Autosomal Dominant 1
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Micropenis, Recurr... OMIM:156200
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Hypothermia, Splenomegaly, Generalized aminoaciduria, Failure to thrive OMIM:251880
Cranioectodermal Dysplasia
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology ORPHA:1515
Braddock-Carey Syndrome 1
Sparse hair, Curly hair, Multicystic kidney dysplasia, Spastic diplegia OMIM:619980
Lelis Syndrome
Yellow nails, Absent lower eyelashes, Nail dystrophy, Sparse hair, Abnormal toenail morphology, S... ORPHA:140936
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine OMIM:266130
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Small for gestational age, Methylmalonic aciduria, Athetosis, Aminoaciduria, Hyperkinetic movemen... OMIM:612073
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Hypospadias, Small for gestational age, Failure to thrive in infancy, Poor coordina... OMIM:618891
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... ORPHA:358
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin... OMIM:618384
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Failure to thrive, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dyspl... OMIM:214110
Zttk Syndrome
Polyuria, Unilateral renal agenesis, Flexion contracture, Horseshoe kidney, Failure to thrive OMIM:617140
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Splenomegaly, Increased urinary O-linked sialop... ORPHA:812
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Acrocephalopolydactylous Dysplasia
Omphalocele, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Chromosome 5P13 Duplication Syndrome
Vesicoureteral reflux, Small for gestational age, Sparse hair, Low posterior hairline OMIM:613174
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... ORPHA:95716
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... ORPHA:1787
Adnp Syndrome
Recurrent urinary tract infections, Inguinal hernia, Urinary incontinence, Aggressive behavior, O... ORPHA:404448
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Increased body weight, Renal tubu... ORPHA:264580
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Anorexia, Decreased circu... ORPHA:199299
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Medium chain dicarboxylic aciduria, Hyperglycinuria, Hypoglycemia OMIM:201450
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Secondary hyperparathy... OMIM:264700
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Choreoathetosis, Renal tubular acidosis, Progressive spastic quadriplegia, Organic aciduria, Nonp... ORPHA:431361
Kaposiform Lymphangiomatosis
Splenomegaly, Multiple renal cysts, Enlarged kidney, Hepatosplenomegaly ORPHA:464329
2Q32Q33 Microdeletion Syndrome
Sparse hair, Fine hair ORPHA:251019
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Inguinal hernia, Large for gestational age, Camp... ORPHA:500095
Hemihyperplasia-Multiple Lipomatosis Syndrome
Multiple lipomas, Nephroblastoma, Lipoatrophy, Enlarged kidney ORPHA:276280
Tyrosinemia, Type Iii
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria OMIM:276710
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair ORPHA:69735
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Hyperlysinuria OMIM:238750
Hereditary Orotic Aciduria
Orotic acid crystalluria, Abnormality of the ureter, Aminoaciduria, Abnormal toenail morphology, ... ORPHA:30
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Sparse hair, Alopecia of scalp OMIM:615280
Saccharopinuria
Citrullinuria, Hyperlysinuria, Cystinuria ORPHA:3124
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Cardiomegaly OMIM:618838
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Elevated circulating creatinine ... ORPHA:340
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Desbuquois Syndrome
Sparse hair, Abnormal eyelash morphology ORPHA:1425
Lamellar Ichthyosis
Sparse hair, Renal insufficiency, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow ORPHA:313
Gyrate Atrophy Of Choroid And Retina
Abnormal hair morphology, Aminoaciduria ORPHA:414
Mitochondrial Complex I Deficiency, Nuclear Type 26
Choreoathetosis, Lacticaciduria, Limb hypertonia OMIM:618247
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sparse hair, Alopecia, Failure to thrive, Fragile nails OMIM:242150
Glutathionuria
Urinary incontinence, Glutathionuria OMIM:231950
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behaviors, A... ORPHA:534
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Cholera
Decreased urine output, Abnormality of renal excretion, Hypoglycemia, Acute kidney injury ORPHA:173
Muscular Dystrophy, Cardiac Type
Carnosinuria OMIM:309930
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis OMIM:614594
Wilson Disease
Hypoparathyroidism, Hepatomegaly, Hyperphosphaturia, Proteinuria, Splenomegaly, Nephrolithiasis, ... OMIM:277900
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Aggressive behavior, Micropenis, Polyphagia, Self-mutilation ORPHA:251028
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Failure to thrive, Hyperconvex nail OMIM:619721
Noonan Syndrome 6
Sparse hair, Curly hair, Long eyebrows, Low posterior hairline OMIM:613224
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair OMIM:608615
Borjeson-Forssman-Lehmann Syndrome
Sparse hair, Truncal obesity, Hypoplasia of penis, Thick eyebrow ORPHA:127
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... ORPHA:91355
Sarcosinemia
Hypersarcosinuria ORPHA:3129
Ifap Syndrome 2
Sparse hair, Nail dystrophy, Atrichia OMIM:619016
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria OMIM:614741
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Sparse hair, Failure to thrive, Nail dystrophy ORPHA:98813
Cutis Laxa, Autosomal Recessive, Type Iiia
Sparse hair, Athetosis, Failure to thrive OMIM:219150
Lysinuric Protein Intolerance
Failure to thrive, Stage 5 chronic kidney disease, Fine hair, Truncal obesity, Aminoaciduria, Hyp... OMIM:222700
Adams-Oliver Syndrome
Alopecia, Aplastic/hypoplastic toenail, Hemiparesis, Hypertonia, Absent fingernail, Sparse hair, ... ORPHA:974
Aredyld Syndrome
Cachexia, Abnormality of the ureter, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:1133
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Heterotaxy, Visceral, 1, X-Linked
Omphalocele, Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Failure to thrive, Enl... OMIM:306955
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Tremor, Abnormal pyramidal sign, Fine hair, Premature graying of hair, Abnormality of ext... OMIM:612199
Argininemia
Diaminoaciduria ORPHA:90
Incontinentia Pigmenti
Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Breast aplasia, H... OMIM:308300
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Small for gestational age, Ataxia, Urolithiasis, Hyperuricosuri... OMIM:300661
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Aggressive behavior, Bicarbonatu... OMIM:309000
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy a... OMIM:106260
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Brittle hair, Absent nipple, Absent hair OMIM:614940
Orthostatic Hypotension 2
Hypoglycemia, Decreased glomerular filtration rate OMIM:618182
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Bathing Suit Ichthyosis
Sparse hair, Alopecia, Nail dystrophy ORPHA:100976
Systemic Capillary Leak Syndrome
Renal insufficiency, Oliguria, Abnormal renal tubule morphology, Weight loss ORPHA:188
Short Stature, Microcephaly, And Endocrine Dysfunction
Ataxia, Unilateral renal agenesis, Ectopic kidney, Renal hypoplasia, Dysmetria, Truncal obesity, ... OMIM:616541
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Hypospadias, Adrenal hypoplasia, Aminoaciduria, Albuminuria, Dysphagia, Failure to ... OMIM:214100
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Sparse hair, Curly hair, Synophrys, Sparse eyebrow OMIM:620075
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output ORPHA:542323
Ethylene Glycol Poisoning
Renal insufficiency, Hypothermia, Renal tubular epithelial necrosis, Renal tubular dysfunction, H... ORPHA:31826
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Postural tremor, Parkinsonism, Rigidity, Bradykinesia, Retrocollis OMIM:609454
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Small for gestational age, Hypothermia, Increased circulating free fatty acid level... ORPHA:26793
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... ORPHA:99845
Revesz Syndrome
Ataxia, Nail pits, Fine hair, Hypertonia, Nail dystrophy, Sparse hair, Ridged fingernail OMIM:268130
Ruijs-Aalfs Syndrome
Premature graying of hair, Sparse hair, Decreased body weight OMIM:616200
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Timothy Syndrome
Hypothyroidism, Cardiomegaly, Hypothermia, Hypoglycemia OMIM:601005
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Flexion contracture, Oliguria, Dysphagia ORPHA:220393
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Small for gestational age, Thin nail, Ataxia, Vocal cord paralysis, Hyperk... OMIM:617799
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Failure to thrive, Homocitrullinuria OMIM:238970
Combined Oxidative Phosphorylation Deficiency 37
3-Methylglutaconic aciduria, Failure to thrive, Hypoglycemia, Hypothermia OMIM:618329
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Secondary hyperparathy... ORPHA:289157
Lysinuric Protein Intolerance
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Decreased response to growth hormone stimulation... ORPHA:470
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Hypoglycemia, Bicarbonaturia, Proximal ... OMIM:229600
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Increased circulating AC... ORPHA:90790
Chromosome 19Q13.11 Deletion Syndrome, Distal
Sparse eyelashes, Hypospadias, Sparse eyebrow, Nail dysplasia, Sparse hair, Failure to thrive OMIM:613026
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... OMIM:131100
Mucoepithelial Dysplasia, Hereditary
Alopecia, Hematuria, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial n... OMIM:158310
Meacham Syndrome
Enlarged kidney, Aplasia of the left hemidiaphragm, Aplasia of the right hemidiaphragm, Horseshoe... OMIM:608978
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Hyposthenuria, Decreased serum creatinine, Abnormal circulating aldosterone, Decr... OMIM:300539
Propionic Acidemia
Organic aciduria ORPHA:35
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... ORPHA:64
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Renal cyst, Fine hair, Polycystic kidney dysplasia, Nail dysplasia... OMIM:614091
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Hypospadias, Hypoglycemia, Hypothermia, Aggressive behavior, Flexion contracture, M... ORPHA:17
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ... OMIM:257980
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... OMIM:190350
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Hypospadias, Small for gestational age, Fine hair, Galactosuria, Sparse... OMIM:222470
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Retrocollis OMIM:601104
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Abnormal re... ORPHA:1606
Infection-Related Hemolytic Uremic Syndrome
Diabetes mellitus, Anuria, Oliguria, Acute kidney injury, Nephrotic range proteinuria, Decreased ... ORPHA:544482
Macs Syndrome
Alopecia, Sparse eyebrow, Urethral stenosis, Decreased body weight, Sparse hair OMIM:613075
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Patchy alopecia OMIM:617763
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... ORPHA:1010
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con... OMIM:614098
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Increased urinary glycerol, Hypertriglyceridemia, Small for gestationa... OMIM:307030
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails ORPHA:77258
Choreoacanthocytosis
Resting tremor, Self-mutilation of tongue and lips due to involuntary movements, Poor motor coord... ORPHA:2388
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Nail dystrophy, Periungual erythema, Sparse hair, Failure to thrive OMIM:615934
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Supernumerary nipple, Synophrys, Hirsutism, Hypertonia, Long eyelashes, Th... OMIM:615485
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Hypoglycemia, Hyperlipidemia, Hematuria, Xanthela... OMIM:232240
Congenital Disorder Of Glycosylation, Type Iia
Hirsutism, Hypertonia, Long eyelashes, Sparse hair, Failure to thrive, Thick eyebrow OMIM:212066
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Hypoglycemia, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Recu... OMIM:124000
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair OMIM:607626
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... ORPHA:416
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Failure to thrive, Hydronephrosis OMIM:302960
Histidinuria Due To A Renal Tubular Defect
Impaired histidine renal tubular absorption, Histidinuria OMIM:235830
Biotinidase Deficiency
Lethargy, Alopecia, Organic aciduria, Ataxia OMIM:253260
Weaver Syndrome
Inguinal hernia, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Polyphagia OMIM:277590
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level OMIM:610768
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse hair, Sparse eyelashes, Sparse eyebrow OMIM:224900
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Failure to thrive, Flexion contracture, Decreased serum leptin OMIM:614008
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Short Syndrome
Sparse hair, Alopecia, Weight loss ORPHA:3163
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Sparse eyebrow, Renal cyst, Horseshoe kidney, Small nail, Sparse hair, High ant... OMIM:250410
Agel Amyloidosis
Proteinuria, Ataxia, Stage 5 chronic kidney disease, Nail dystrophy, Sparse hair ORPHA:85448
Lassa Fever
Oliguria, Dysphagia ORPHA:99824
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Failure to thrive in infancy, Abnormal eyelash morphology, Low p... ORPHA:1340
Argininemia
Progressive spastic quadriplegia, Diaminoaciduria, Spastic paraparesis, Frequent falls, Oroticaci... OMIM:207800
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Bilateral fetal pyelectasis, Increased urine succinate level... OMIM:606812
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Oculomotor apraxia, Low posterio... OMIM:115150
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Speech apraxia, Clonus, Oroticaciduria, Poor coordination, Abnormal pyramidal sign, Spastic parap... ORPHA:415
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Tyrosinemia, Type Ii
Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria OMIM:276600
Orotic Aciduria
Hematuria, Failure to thrive, Oroticaciduria, Orotic acid crystalluria OMIM:258900
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Small for gestational age, Limb joint contracture, Decreased resting energy expendi... ORPHA:404454
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow OMIM:190351
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Ataxia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair OMIM:127550
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... OMIM:277400
Oculodentodigital Dysplasia
Curly hair, Neurogenic bladder, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, ... ORPHA:2710
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri... OMIM:252150
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Cerebral palsy, Spastic tetraparesis, Paraparesis, Oroticaciduria, Failure to thrive OMIM:620358
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Thick hair, Coarse hair, Sparse hair, Spasticity, Failure to thrive ORPHA:357074
Tubulointerstitial Nephritis And Uveitis Syndrome
Chorioretinal scar, Anorexia, Elevated circulating creatinine concentration, Renal neutrophilic t... ORPHA:91500
Bruck Syndrome 2
Inguinal hernia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Hydrox... OMIM:609220
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sparse hair, Alopecia, Abnormal fingernail morphology ORPHA:659
Sepsis In Premature Infants
Hepatomegaly, Small for gestational age, Splenomegaly, Oliguria, Reversible renal failure, Decrea... ORPHA:90051
Scarf Syndrome
Low posterior hairline, Perineal hypospadias, Hypoplastic nipples, Sparse hair, Micropenis ORPHA:3134
Oculodentodigital Dysplasia
Neurogenic bladder, Dry hair, Slow-growing hair, Ataxia, Paraparesis, Fine hair, Tetraparesis, Sp... OMIM:164200
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Alexander Disease
Diabetes mellitus, Hypothermia, Precocious puberty, Self-injurious behavior, Dysphagia, Failure t... ORPHA:58
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased ra... ORPHA:90673
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair, Spasticity, Hypospadias, Hydronephrosis OMIM:616449
Perlman Syndrome
Nephrogenic rest, Hypoglycemia, Renal hamartoma, Congenital diaphragmatic hernia, Large for gesta... OMIM:267000
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair OMIM:268020
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Splenomegaly, Renal ... OMIM:312870
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... OMIM:305100
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Ataxia, Oroticaciduria, Episodic ataxia, Lethargy, Failure to thrive OMIM:311250
Citrullinemia, Classic
Lethargy, Failure to thrive, Oroticaciduria, Ataxia OMIM:215700
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Argininosuccinic aciduria OMIM:603471
Cartilage-Hair Hypoplasia
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair OMIM:250250
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Small for gestational age, Absent ... OMIM:268400
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Failure to thrive, Sparse eyelashes, Fine hair OMIM:257850
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Abnormal fingernail morphology, Fine hair ORPHA:1806
Cerebellar-Facial-Dental Syndrome
Sparse eyebrow, Fine hair, Sparse hair, Ureteropelvic junction obstruction, Failure to thrive, Hy... ORPHA:444072
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Dysphagia... OMIM:617913
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Aminoaciduria, Brittle hair, Ataxia OMIM:616084
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Sparse hair, Alopecia, Abnormal toenail morphology ORPHA:1005
Cranioectodermal Dysplasia 3
Short nail, Broad nail, Stage 5 chronic kidney disease, Fine hair, Nephronophthisis, Sparse hair OMIM:614099
Scarf Syndrome
Low anterior hairline, Low posterior hairline, Perineal hypospadias, Hypoplastic nipples, Sparse ... OMIM:312830
Interstitial Lung And Liver Disease
Hepatomegaly, Aminoaciduria, Failure to thrive, Hypothyroidism OMIM:615486
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Duplicated collecting system, Curly hair, Sparse scalp hair, Large for gestational age, Loose ana... OMIM:607721
Biotinidase Deficiency
Alopecia, Ataxia, Organic aciduria, Spastic paraparesis, Lethargy ORPHA:79241
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Small for gestational age, Nail dysplasia, Small nail, Sparse hair, Failure to thrive, Breast hyp... OMIM:614813
Onychotrichodysplasia And Neutropenia
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... OMIM:258360
Microscopic Polyangiitis
Hematuria, Glomerulopathy, Renal insufficiency, Oliguria ORPHA:727
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Synophrys, Sparse hair, Vesicoureteral reflux, Thick eyebrow, Limb hypertonia OMIM:609460
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Macular scar, Hypercalciuria, Hydroxyprolinuria, Failure... OMIM:239000
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair OMIM:613451
White-Sutton Syndrome
Duplicated collecting system, Failure to thrive, Sparse hair, Obesity OMIM:616364
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Small for gestational age, Cystathioninuria, Methylmalonic aciduria, Failure to thr... OMIM:277380
Papillon-Lefèvre Syndrome
Abnormal fingernail morphology, Nail dystrophy, Abnormality of the nail, Sparse body hair, Genera... ORPHA:678
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Duplicated collecting system, Sparse scalp hair, Hydroureter, Renal agenesis, Sparse eyelashes, S... OMIM:129900
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Athetosis, Fine hair OMIM:614438
Down Syndrome
Sparse hair, Obesity, Renal hypoplasia/aplasia ORPHA:870
Nablus Mask-Like Facial Syndrome
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... OMIM:608156
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Ataxia, Tremor, Synophrys, Spastic diplegia, Sparse hair, Spasticity, Toenail dysplasia, Hirsutism OMIM:300966
Cockayne Syndrome B
Renal insufficiency, Dry hair, Proteinuria, Small for gestational age, Ataxia, Abnormal hair morp... OMIM:133540
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Camptodactyly of finger, Aggressive behavior, Ectopic kidney, Polyphagia, Obesity, C... OMIM:607872
Lujo Hemorrhagic Fever
Renal insufficiency, Microscopic hematuria, Oliguria, Dysphagia ORPHA:319213
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Stage 5 chronic kidney disease, Lacticaciduria OMIM:618250
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Coarse hair, Sparse... OMIM:617506
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria OMIM:613070
Noonan Syndrome 14
Sparse hair, Curly hair, Sparse eyebrow, Low posterior hairline OMIM:619745
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... OMIM:620330
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Small for gestational age, Sparse eyebrow, Fine hair, Choreo... OMIM:234100
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Aciduria, Paralysis, Hypertonia, 3-Methylglutaconic aciduria, Ethylmalonic aciduria, Myoc... OMIM:203700
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... ORPHA:1071
Teebi-Shaltout Syndrome
Ureteral stenosis, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Horseshoe kid... OMIM:272950
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Lacticaciduria OMIM:615595
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Failure to thrive, Low anterior hairline, Low poster... OMIM:601358
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria OMIM:267430
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Nephrocalcinosis, Enamel hypoplasia, Increased renal... OMIM:211900
Woodhouse-Sakati Syndrome
Alopecia, Fine hair, Choreoathetosis, Abnormality of extrapyramidal motor function, Sparse hair, ... OMIM:241080
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Sparse body hair ORPHA:3068
Gapo Syndrome
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre... OMIM:230740
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Brittle hair, Proteinuria, Alopecia, Ataxia, T... ORPHA:2750
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level OMIM:605850
Bone Marrow Failure Syndrome 3
Nail dystrophy, Small nail, Sparse hair, Failure to thrive, Aplasia/Hypoplasia of the eyebrow OMIM:617052
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog... ORPHA:1775
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair, Decreased body weight OMIM:615349
D-Lactic Aciduria With Gout
Lacticaciduria OMIM:245450
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormal fingernail morphology, Abnorma... ORPHA:2036
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... OMIM:620185
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Unilateral renal agenesis, Sparse axillary hair, Sparse pubic hair, Renal hy... OMIM:181270
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Sparse hair, Failure to thrive OMIM:615508
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k... ORPHA:26791
Rothmund-Thomson Syndrome
Sparse eyelashes, Alopecia totalis, Small for gestational age, Sparse eyebrow, Small nail, Nail d... ORPHA:2909
Naxos Disease
Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... OMIM:601214
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Lethargy, Fail... OMIM:617156
Hamamy Syndrome
Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh... OMIM:611174
Ectodermal Dysplasia And Immunodeficiency 2
Sparse hair, Aplasia of the sweat glands, Failure to thrive, Sparse scalp hair OMIM:612132
Osteogenesis Imperfecta, Type Xx
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow OMIM:618644
Kid Syndrome
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Trichilemmoma, Nail dystrophy, Spar... ORPHA:477
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Congenital diaphragmatic hernia, Patent urachus, Micropenis, Enlarged ki... OMIM:618280
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys... OMIM:150400
De Barsy Syndrome
Sparse hair, Athetosis, Failure to thrive, Progressive cerebellar ataxia ORPHA:2962
Canavan Disease
Elevated urinary N-acetylaspartic acid level OMIM:271900
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Papillary renal cell carcinoma, Premature graying of hair, Spar... ORPHA:363618
Marshall Syndrome
Sparse hair, Sparse eyelashes, Sparse eyebrow ORPHA:560
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Wei... ORPHA:740
Liver Disease, Severe Congenital
Hepatomegaly, Recurrent urinary tract infections, Inguinal hernia, Hypospadias, Cardiomegaly, Abn... OMIM:619991
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria OMIM:614946
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/a... ORPHA:99413
Mosaic Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/a... ORPHA:99228
Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/a... ORPHA:99226
Turner Syndrome
Failure to thrive in infancy, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/a... ORPHA:881
Cranioectodermal Dysplasia 1
Slow-growing hair, Thin nail, Short nail, Renal magnesium wasting, Chronic kidney disease, Stage ... OMIM:218330
Mosaic Variegated Aneuploidy Syndrome 2
Sparse hair, Small for gestational age OMIM:614114
Marshall-Smith Syndrome
Brittle hair, Highly arched eyebrow, Synophrys, Hypertonia, Decreased body weight, Sparse hair, F... OMIM:602535
Opitz-Kaveggia Syndrome
Hypospadias, Fine hair, Frontal upsweep of hair, Sparse hair, Spasticity OMIM:305450
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Micropenis, Sparse body hair, Breast hypoplasia ORPHA:432
Glass Syndrome
Sparse hair, Long eyelashes, Nail dysplasia OMIM:612313
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine... OMIM:252160
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Multiple glomerular cysts, Hypothermia, Lacticaciduria, Dysphagia, Failure to thriv... ORPHA:255210
Hartnup Disease
Abnormal urinary color, Neutral hyperaminoaciduria ORPHA:2116
Cockayne Syndrome A
Renal insufficiency, Dry hair, Proteinuria, Ataxia, Tremor, Sparse hair, Micropenis, Failure to t... OMIM:216400
Monosomy 22
Sparse hair, Micropenis, Hypertonia, Synophrys ORPHA:96123
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body... ORPHA:2108
Menkes Disease
Hypopigmentation of hair, Chorea, Bladder diverticulum, Hypertonia, Sparse hair, Woolly hair, Spa... ORPHA:565
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hypospadias, Ataxia, Babinski sign, Lacticaciduria, Tongue fascic... OMIM:252010
Ectodermal Dysplasia-Skin Fragility Syndrome
Urethral stricture, Nail dystrophy, Sparse hair, Failure to thrive, Alopecia universalis ORPHA:158668
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Anuria, Elevated circulating creatinine concentration, Acute kidney injury ORPHA:90038
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Highly arched eyebrow, Large for gestational age, Fine hair, Gait a... OMIM:280000
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair OMIM:118650
Neurocardiofaciodigital Syndrome
Small for gestational age, Sparse eyebrow, Sparse hair, Vesicoureteral reflux, Failure to thrive OMIM:619869
Xeroderma Pigmentosum
Alopecia, Ataxia, Aminoaciduria, Abnormality of extrapyramidal motor function, Spasticity, Failur... ORPHA:910
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a... OMIM:619743
Amish Lethal Microcephaly
Organic aciduria, Limb hypertonia ORPHA:99742
Kaufman Oculocerebrofacial Syndrome
Sparse hair, Failure to thrive, Sparse eyebrow OMIM:244450
Histidinemia
Histidinuria, Hyperhistidinemia ORPHA:2157
Rothmund-Thomson Syndrome Type 1
Small for gestational age, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse h... ORPHA:221008
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Highly arched eyebrow, Fine hair, Low posterior hairline, Sparse hair, Failure to thrive OMIM:613563
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sparse scalp hair, Recurrent urinary tract infections, Crossed fused renal ectopia, Hypospadias, ... OMIM:619841
Cartilage-Hair Hypoplasia
Sparse hair, Failure to thrive, Mucopolysacchariduria, Sparse eyebrow ORPHA:175
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... ORPHA:2232
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Ablepharon Macrostomia Syndrome
Absent eyebrow, Hypoplasia of penis, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse h... ORPHA:920
Developmental And Epileptic Encephalopathy 50
Renal tubular acidosis, Failure to thrive, Oroticaciduria OMIM:616457
Premature Aging Syndrome, Penttinen Type
Sparse hair, Failure to thrive OMIM:601812
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Aplasia of the eccrine sweat glands OMIM:300291
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Com... OMIM:557000
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion, Enthesitis ORPHA:289176
Rothmund-Thomson Syndrome Type 2
Small for gestational age, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse h... ORPHA:221016
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Hydroureter, Thin fingernail, Abnormality of the kidney, Abnormality of... ORPHA:2273
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... OMIM:218700
Orofaciodigital Syndrome I
Alopecia, Dry hair, Proteinuria, Polycystic kidney dysplasia, Sparse hair OMIM:311200
Neuroleptic Malignant Syndrome
Proteinuria, Urinary incontinence, Hypothermia, Agitation, Dysphagia, Myoglobinuria, Acute kidney... ORPHA:94093
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Rigidit... ORPHA:2636
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair OMIM:607812
Colchicine Poisoning
Renal insufficiency, Oliguria ORPHA:31824
Myhre Syndrome
Small for gestational age, Ataxia, Obesity, Fine hair, Sparse hair, Thick eyebrow OMIM:139210
Lenz-Majewski Hyperostotic Dwarfism
Sparse hair, Failure to thrive, Chordee, Hypospadias OMIM:151050
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Recurrent urinary tract infections, Failure to thrive, Hypospadias, Ataxia, Ac... ORPHA:3455
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity OMIM:619351
Marburg Hemorrhagic Fever
Renal insufficiency, Hypoglycemia, Anorexia, Aggressive behavior, Hypothermia, Elevated circulati... ORPHA:99826
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Sparse axillary hair, Sparse pubic hair, Micropenis, Failure to thrive, Sparse body ... ORPHA:90796
Molybdenum Cofactor Deficiency, Complementation Group C
Increased urinary taurine OMIM:615501
Costello Syndrome
Deep-set nails, Curly hair, Renal insufficiency, Thin nail, Concave nail, Sparse hair, Failure to... OMIM:218040
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Renal hypoplasia, Renal cyst, Fine hair, Sti... OMIM:210710
Combined Immunodeficiency-Enteropathy Spectrum
Sparse hair, Absent eyebrow, Alopecia of scalp, Nail dystrophy ORPHA:436252
Pyruvate Carboxylase Deficiency
Ataxia, Tremor, Abnormal pyramidal sign, Lacticaciduria, Failure to thrive ORPHA:3008
Stuve-Wiedemann Syndrome 1
Sparse hair OMIM:601559
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Recurrent urinary tract infections, Obesity, Renal hypoplasia, Sparse hair, Frontal hirsutism, Fa... OMIM:617157
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria OMIM:602080
Chime Syndrome
Hydronephrosis, Sparse hair, Abnormality of the kidney, Fine hair ORPHA:3474
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair, Urinary incontinence OMIM:619934
Alkaptonuria
Aminoaciduria, Nephrolithiasis ORPHA:56
X-Linked Intellectual Disability, Armfield Type
Aminoaciduria, Organic aciduria, Inguinal hernia, Galactosuria ORPHA:85276
Pmm2-Cdg
Multiple joint contractures, Hypogonadotropic hypogonadism, Proteinuria, Elevated circulating gro... ORPHA:79318
Mandibuloacral Dysplasia Progeroid Syndrome
Proteinuria, Sparse eyebrow, Focal segmental glomerulosclerosis, Nail dystrophy, Sparse hair OMIM:619127
Renpenning Syndrome 1
Brittle hair, Hypospadias, Phimosis, Renal hypoplasia, Sparse hair, Spasticity, Sparse lateral ey... OMIM:309500
Cranioectodermal Dysplasia 2
Renal insufficiency, Sparse eyelashes, Sparse eyebrow, Renal cyst, Sparse hair OMIM:613610
Focal Dermal Hypoplasia
Ridged nail, Ureteral duplication, Brittle hair, Supernumerary nipple, Horseshoe kidney, Patchy a... OMIM:305600
Sarcoidosis
Hepatomegaly, Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Scarring, Hypothermia, Ne... ORPHA:797
Pearson Syndrome
Renal insufficiency, Proteinuria, Small for gestational age, Ataxia, Lacticaciduria, Renal cyst, ... ORPHA:699
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Sparse hair, Proteinuria, Nail dysplasia OMIM:616682
Yellow Fever
Renal insufficiency, Anuria, Pancreatic hyperplasia, Elevated circulating creatinine concentratio... ORPHA:99829
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Hypothermia, Abnormality of the endocrine system, Precocious puberty, Abnormali... ORPHA:438213
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Fasciitis, Impulsivity, Hypothermia, Chronic kidney disease, Corneal ... ORPHA:642
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Sparse eyebrow, Hypoplastic nipples, Small nail, Nail dystrophy, Sparse hair OMIM:620186
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Sparse hair, Renal hypoplasia OMIM:620005
Roberts Syndrome
Sparse hair, Long penis, Polycystic kidney dysplasia ORPHA:3103
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Micropenis, Hypoplastic finge... OMIM:200110
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Kanzaki Disease
Increased urinary O-linked sialopeptides, Aminoaciduria OMIM:609242
Restrictive Dermopathy
Ureteral duplication, Hypospadias, Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine... ORPHA:1662
Trichorhinophalangeal Syndrome, Type Ii
Sparse scalp hair, Thick eyebrow, Hemiparesis, Sparse hair, Vesicoureteral reflux, Alopecia of sc... OMIM:150230
Wrinkly Skin Syndrome
Sparse hair, Progressive cerebellar ataxia, Failure to thrive, Slurred speech ORPHA:2834
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria ORPHA:466650
Wrinkly Skin Syndrome
Sparse hair, Failure to thrive, Short nail, Fragile nails OMIM:278250
Leprosy
Absent eyebrow, Alopecia, Loss of eyelashes, Sparse body hair ORPHA:548
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Supernumerary nipple, Renal cyst, Low posterior hairline, Premature ... OMIM:113620
Primrose Syndrome
Sparse scalp hair, Ataxia, Absent facial hair, Synophrys, Truncal obesity, Absent axillary hair, ... OMIM:259050
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Hypospadias, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow,... OMIM:601803
Menke-Hennekam Syndrome 1
Sparse hair, Long eyelashes, Thick eyebrow OMIM:618332
Roberts-Sc Phocomelia Syndrome
Hypospadias, Long penis, Horseshoe kidney, Stillbirth, Polycystic kidney dysplasia, Sparse hair OMIM:268300
Aspartylglucosaminuria
Hepatomegaly, Inguinal hernia, Aspartylglucosaminuria, Splenomegaly, Umbilical hernia ORPHA:93
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Hernia OMIM:208400
Hypervalinemia And Hyperleucine-Isoleucinemia
Hoffmann sign OMIM:618850

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 Bcat2

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 Bcat2.

No publications found that use IMPC mice or data for Bcat2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Bcat2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Bcat2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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