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Gene: Pnpla7 MGI:2385325

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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:
patatin-like phospholipase domain containing 7
Synonyms:
NRE,  E430013P11Rik

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 Pnpla7 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pnpla7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim... ORPHA:435660
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
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
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Short stature, Aggressive behavior, Hyperlipidemia, Hyperinsulinem... ORPHA:329249
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the you... ORPHA:324575
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short stature, Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hor... ORPHA:171706
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Increased C-peptide level, Hyperinsul... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Increased C-peptide level, Hyperinsulinemia, Hypoglycemi... ORPHA:276575
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Short stature, Small for gestational age, Kyphosis, Increased serum serotonin, Hir... ORPHA:85288
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Premature graying of hair, Increased intraabdominal fat,... ORPHA:280365
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Short sta... ORPHA:314811
Idiopathic Congenital Hypothyroidism
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... ORPHA:95717
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Increased C-peptide level, Hypogl... ORPHA:276556
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Mitochondrial Myopathy With Diabetes
Facial palsy, Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Limb ... OMIM:500002
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Obesity And Hypopigmentation
Hyperinsulinemia, Polyphagia, Obesity, Red hair, Hepatic steatosis OMIM:620195
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... ORPHA:95716
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hype... OMIM:620211
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... ORPHA:254516
Laryngeal Neuroendocrine Tumor
Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone excess, Weight loss, Elevated ca... ORPHA:100083
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Lower limb muscle weakness,... ORPHA:602
Obesity Due To Sim1 Deficiency
Short stature, Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity di... ORPHA:369873
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Hypercholesterolemia, Neonatal hy... ORPHA:90674
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu... OMIM:616199
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat... OMIM:245400
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Short stature, Growth delay, Delayed ... ORPHA:314802
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia, Large for gestational age, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Short stature, Spinal rigidity, Abnormal muscle fiber mo... ORPHA:598
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... OMIM:232700
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, P... OMIM:262400
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Obesity OMIM:618406
Inclusion Body Myositis
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... ORPHA:611
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:604367
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Facial pal... OMIM:606407
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Decreased serum leptin, Obesity OMIM:614962
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... ORPHA:363400
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Ragg... ORPHA:276435
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Postnatal g... ORPHA:453533
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Mantle Cell Lymphoma
Fever, Splenomegaly, Anorexia, Weight loss ORPHA:52416
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Short stature, Short neck, Low anterior hairline, Delay... OMIM:616033
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... ORPHA:226316
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Po... OMIM:222100
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Spinal rigidity, Centrally nucleated skeletal muscle fiber... OMIM:608423
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Low back pain, Fever, Hypoglycemia, Reduced C-peptide level, Weig... ORPHA:2126
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyphosis, Sho... OMIM:300718
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Hypothermia OMIM:615026
Nonaka Myopathy
Elevated circulating creatine kinase concentration, Distal amyotrophy, EMG: myopathic abnormaliti... OMIM:605820
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Elevated circulat... OMIM:600175
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hypertriglyc... OMIM:612526
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia, Goiter, Elev... ORPHA:90673
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Peroneal muscle atrophy, Z-band streaming, Shoulder girdle muscle atrophy, Dysphagia, Weakness of... OMIM:181400
Nemaline Myopathy 2
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... OMIM:256030
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness OMIM:611225
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Schaaf-Yang Syndrome
Failure to thrive in infancy, Short stature, Impulsivity, Kyphosis, Flexion contracture, Obesity,... OMIM:615547
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... OMIM:618655
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Generalized amyotrophy, Hypothermia OMIM:610006
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Increased blood urea nitrogen, Hyperisoleucinemia, Hyperleucinemi... OMIM:620085
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concen... OMIM:300696
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Hypoglycemia, Short stature, Severe postnatal growth retardation, Adrenal ins... OMIM:262700
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Short stature, Facial palsy, Elevated circulating creatine kinase concentration, Ragged-red muscl... OMIM:616209
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... OMIM:251880
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati... ORPHA:178464
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Facial hypotonia, Fatty ... ORPHA:266
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellit... OMIM:608594
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Lower limb muscle weakness, Hyperlordosis, Quadriceps ... OMIM:620389
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Hypothermia, Elevated circulating acylcarn... ORPHA:159
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Bethlem Myopathy 2
Scapular winging, Elevated circulating creatine kinase concentration, Kyphosis, Flexion contractu... OMIM:616471
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... ORPHA:98855
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... ORPHA:293987
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Elevated ... OMIM:620386
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Hypertriglyceridem... ORPHA:528
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat... OMIM:601954
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Short stature, Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity... OMIM:617404
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... ORPHA:2457
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... OMIM:613327
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypertriglyceridemia, Hypoglycemia, Short stature ORPHA:366
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... OMIM:608099
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... ORPHA:79084
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Exercise-induced rhabdomyolysis, Small for gestation... ORPHA:26793
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... OMIM:269700
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Dysp... OMIM:618323
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Diabet... OMIM:615381
Parastremmatic Dwarfism
Severe short stature, Short neck, Kyphosis, Flexion contracture, Scoliosis OMIM:168400
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... ORPHA:206549
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Short neck, Decreased cervical spi... ORPHA:98863
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... OMIM:151660
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Elevated circulating creatine kinase concentration, Short neck, Spinal rigidity, Kyp... ORPHA:75840
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia, Left ventricular hypertrophy, Hyperalaninemia, Decreased level of coenzyme Q10 in sk... OMIM:614654
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder, Asympt... ORPHA:35878
Sandhoff Disease, Adult Form
Elevated circulating creatine kinase concentration, Upper limb muscle weakness, Proximal muscle w... ORPHA:309169
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Short stature, Distal amyotrophy, Scoliosis, Type 1 muscle... OMIM:619042
14Q11.2 Microduplication Syndrome
Highly arched eyebrow, Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity ... ORPHA:261229
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Pulmonary Blastoma
Fever, Weight loss ORPHA:64741
Myopathy, Distal, 1
Toe extensor amyotrophy, Lumbar hyperlordosis, Tibialis anterior muscle atrophy, Elevated circula... OMIM:160500
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Fever, Anorexia, Weight loss ORPHA:2023
Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... ORPHA:98853
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Short stature, Obesity, Polyphagia ORPHA:177910
Welander Distal Myopathy
Distal amyotrophy, Mildly elevated creatine kinase, Rimmed vacuoles OMIM:604454
Congenital Myopathy 10A, Severe Variant
Elevated circulating creatine kinase concentration, Camptodactyly of finger, Facial palsy, Increa... OMIM:614399
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Elevated circulating creatine kinase concentration... ORPHA:424107
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho... OMIM:609115
Combined Oxidative Phosphorylation Deficiency 34
Fever, Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated ci... OMIM:617872
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Diabet... ORPHA:79083
Inclusion Body Myopathy And Brain White Matter Abnormalities
Low back pain, Scapular winging, Proximal muscle weakness in upper limbs, Elevated circulating cr... OMIM:619733
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Hyperlordosis, Centrally nucleated skeletal m... OMIM:617760
Myasthenic Syndrome, Congenital, 14
Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... OMIM:616228
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... OMIM:620286
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ... OMIM:613877
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Lipod... ORPHA:2348
Timothy Syndrome
Hypothyroidism, Hypocalcemia, Hypothermia, Hypoglycemia OMIM:601005
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Short stature, Ragged-red muscle fibers, Proximal muscle... ORPHA:457050
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Hyperlordosis, Kyphosis, Hyperinsulinemia, Obesity... ORPHA:3085
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Abnormal hair morpholo... ORPHA:1979
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Short stature, Kyphosis, Scoliosis, Bruxism, Hirsutism OMIM:300434
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Abnormal circulating cholesterol con... ORPHA:399
Bardet-Biedl Syndrome 22
Obesity, Hypogonadism, Polyphagia, Large for gestational age OMIM:617119
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Short stature, Hepa... ORPHA:369
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Alexander Disease
Diabetes mellitus, Facial palsy, Hypothermia, Short neck, Precocious puberty, Hyperlordosis, Kyph... ORPHA:58
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Merrf
Multiple lipomas, Ragged-red muscle fibers, Short stature, Myopathy ORPHA:551
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Methylmalonic acidemia, Skeletal muscle atrophy, Hyp... ORPHA:17
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98793
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Fever, ... ORPHA:20
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Idiopathic Achalasia
Weight loss, Decreased prealbumin level, Dysphagia ORPHA:930
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 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177904
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Hip contracture, Abnormality of temperature regulation, Short stature, Hypothermia, Kyphos... OMIM:618493
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles, Dysphagia OMIM:147421
Central Core Disease
Multiple joint contractures, Elevated circulating creatine kinase concentration, Kyphoscoliosis, ... ORPHA:597
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Central hypothyroidism, Wei... ORPHA:95427
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
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Weakness o... OMIM:618484
Coffin-Siris Syndrome 8
Sparse scalp hair, Hyperactivity, Inguinal hernia, Aggressive behavior, Self-injurious behavior, ... OMIM:618362
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Hyperactivity, Small for gestational age, Short stature, Highly arched eyebrow, ... ORPHA:352490
Hereditary Central Diabetes Insipidus
Fever, Weight loss, Growth delay, Polydipsia, Diabetes insipidus ORPHA:30925
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Dysphagia, Myopathy, Congenital contracture, Typ... OMIM:605637
Central Diabetes Insipidus
Fever, Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive, Diabetes insipidus ORPHA:178029
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Increased body weight, Compulsive behaviors, Hypothalamic luteinizing hormon... ORPHA:398069
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Elevated circulating creatine kinase concentration, Spinal rigidity, Flexion contracture, Scolios... OMIM:300717
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Elevated circulating creatine kinase concentration, Muscle fiber cytoplasm... OMIM:609524
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Incr... OMIM:616852
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Camptodactyly of finger, Hypoglycemia, Short stature, Acute rhabdo... ORPHA:48431
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Spinal rigidity, Hyperlordosis, Limb muscle weakness, Scoliosis, Dysphagia, Type 1 ... OMIM:161800
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Short stature, Kyphosis, Attention deficit hyperactivity disorder, Facial myokymia, Failure to th... OMIM:620007
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Spleno... ORPHA:525731
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Highly elevated creatine kinase, Calf muscle hypertrophy, P... OMIM:618848
Rett Syndrome
Increased serum pyruvate, Skeletal muscle atrophy, Hyperammonemia, Agitation, Cholecystitis, Incr... ORPHA:778
Donohue Syndrome
Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Postnatal growth retardation, H... OMIM:246200
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Spinal rigidity, Overweight, Centrally nucleated skeletal muscle fib... ORPHA:486815
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hypothermia, Insulin resistance, Elevated circulating creatinine concentration, Hyp... ORPHA:230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Elevated circulating creatine kinas... OMIM:606612
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Shoulder g... OMIM:603511
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Increased variability in muscle fiber diam... ORPHA:488650
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Fatty repla... OMIM:620249
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
King-Denborough Syndrome
Lumbar hyperlordosis, Short stature, Elevated circulating creatine kinase concentration, Kyphosco... OMIM:619542
Oculopharyngeal Muscular Dystrophy
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ... ORPHA:270
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul... ORPHA:79237
Aredyld Syndrome
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Short stature, Splenomega... ORPHA:1133
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Elevated circulating creatine kinase concentration, Spinal mus... OMIM:615290
Prader-Willi Syndrome
Decreased muscle mass, Decreased response to growth hormone stimulation test, Hypogonadotropic hy... OMIM:176270
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Hypothermia, Bile duct proliferation, Macrovesicular... OMIM:618329
2Q23.1 Microdeletion Syndrome
Hyperactivity, Short stature, Highly arched eyebrow, Abnormal repetitive mannerisms, Synophrys, G... ORPHA:228402
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta... OMIM:160150
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Inguinal hernia, Hypothermia, Limb hypertonia OMIM:614498
Mitochondrial Myopathy, Infantile, Transient
Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Facia... OMIM:500009
Tuberculosis
Fever, Weight loss ORPHA:3389
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... ORPHA:98897
Childhood-Onset Nemaline Myopathy
Scapular winging, Spinal rigidity, Flexion contracture, Neuromuscular dysphagia, Increased muscle... ORPHA:171439
Menkes Disease
Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Short stature, Hypothe... OMIM:309400
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Fever, Hepatomegaly, Anorexia, Splenomegaly, Weight loss ORPHA:86893
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hypothermia, Thyroid agenesis, Elevated circulating th... OMIM:218700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ra... OMIM:617069
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... OMIM:619178
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Elevated circula... OMIM:167320
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Short stature, Precocious puberty, Insulin-resistant dia... OMIM:262190
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:601846
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... OMIM:608612
Muscle Filaminopathy
Back pain, Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal mu... ORPHA:171445
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Elevated circulating creatine kinase concentration, Centrally nuclea... OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, E... OMIM:619566
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hyperactivity, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:248370
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Hypoglycemia, Small for gestational age, Short stature, Postnatal growth retardati... ORPHA:73272
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... ORPHA:263455
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Lumbar hyperlordosis, Shoulder flexion cont... OMIM:617114
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Obesity, ... ORPHA:254531
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... OMIM:619473
Congenital Myopathy 3 With Rigid Spine
Short stature, Facial palsy, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Flexion... OMIM:602771
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Calf muscle pseudohypertrophy, Insulin-re... ORPHA:79086
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Short stature, Short neck, Kyphosis, Biliary tract abnormality, Obesity, Type II... ORPHA:3191
Myopathy, Myofibrillar, 2
Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Quadriceps muscl... OMIM:608810
Kleine-Levin Syndrome
Fever, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, A... ORPHA:33543
Tenorio Syndrome
Hypoglycemia, Macroglossia, Scoliosis, Hypoinsulinemia, Thick eyebrow, Hypertrichosis OMIM:616260
Erythrokeratodermia Variabilis
Alopecia, Diabetes mellitus, Short stature, Abnormal hair morphology, Weight loss, Generalized hi... ORPHA:317
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Upper limb amyotrophy, Scoliosis, Lower limb amyotrophy, Foot dorsiflexor weakness OMIM:617087
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... ORPHA:361
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Increased circula... OMIM:300942
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... OMIM:253700
Intellectual Developmental Disorder, Autosomal Dominant 26
Hyperactivity, Inguinal hernia, Small for gestational age, Short stature, Highly arched eyebrow, ... OMIM:615834
Orthostatic Hypotension 1
Intermittent hypothermia, Reduced circulating prolactin concentration, Increased blood urea nitro... OMIM:223360
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal rigidity, Centra... ORPHA:86812
Inflammatory Pseudotumor Of The Liver
Fever, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated... ORPHA:90003
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Short stature, Camptodactyly OMIM:618453
Chronic Hiccup
Weight loss, Abnormality of the diaphragm, Abnormal eating behavior ORPHA:396
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Inguinal hernia, Small for gestational age, Short stature, Kyphosis, Decreased body weight OMIM:618392
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Short stature, Elevated circulating crea... OMIM:248800
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... ORPHA:199299
Hypotonia-Cystinuria Syndrome
Growth delay, Failure to thrive, Polyphagia ORPHA:163690
Cdkl5-Deficiency Disorder
Kyphosis, Synophrys, Growth delay, Inappropriate laughter, Scoliosis, Bruxism, Stereotypical hand... ORPHA:505652
Oculopharyngodistal Myopathy 2
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas... OMIM:618940
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short stature, Abnormal form of... ORPHA:40
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased connective... OMIM:253601
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... OMIM:615424
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Failure to thrive, Multiple joint contractures, Foot joint contr... ORPHA:536516
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Short stature, Elevated circulating cr... OMIM:232400
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Primary Erythromelalgia
Hypothermia ORPHA:90026
Myopathy, Distal, Tateyama Type
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... OMIM:614321
Congenital Myopathy 4A, Autosomal Dominant
Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f... OMIM:255310
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Decreased muscle mass, Hypergonadotropic hypogonadism, Hypogonadot... ORPHA:298
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Precocious puberty, ... ORPHA:398079
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Flynn-Aird Syndrome
Skeletal muscle atrophy, Alopecia, Cachexia, Abnormality of the thyroid gland, Kyphosis, Primary ... ORPHA:2047
Adult-Onset Nemaline Myopathy
Flexion contracture, Neuromuscular dysphagia, Increased muscle lipid content, Upper limb muscle w... ORPHA:171442
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Short stature, Abnormality of the thyroid gland, Synophrys, ... OMIM:182290
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Ragg... OMIM:617070
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Meningococcal Meningitis
Fever, Elevated circulating C-reactive protein concentration, Hypothermia, Anorexia ORPHA:33475
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Thick eyebrow, Hyperthyroidism, Decreased response to growth hormone sti... ORPHA:488632
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c... OMIM:254110
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia, Alope... OMIM:618775
Borjeson-Forssman-Lehmann Syndrome
Short stature, Kyphosis, Obesity, Scoliosis, Delayed puberty, Scheuermann-like vertebral changes,... OMIM:301900
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
Bardet-Biedl Syndrome 9
Polydipsia, Obesity, Truncal obesity, Hyperglycemia, Polyphagia OMIM:615986
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Facia... ORPHA:353327
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Elevated circulating creatine kinase concentration, Kyphoscoliosis, Flexion contracture, Increase... OMIM:607855
Short Stature, Dauber-Argente Type
Postnatal growth retardation, Increased insulin like growth factor binding protein acid labile su... OMIM:619489
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Kyphosis, Flexion contrac... OMIM:254090
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Lumbar hyperlordosis, Calf muscle pseudohypertrophy, Elevated circulating creat... ORPHA:353
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Dysphagia, Weakness of facial mu... OMIM:620265
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Hyperkalemi... OMIM:614736
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Delayed puberty, Distichiasis ORPHA:2598
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creatine kinase concentration, Glycog... OMIM:300559
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo... OMIM:203800
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Hypothermia OMIM:616501
Prader-Willi Syndrome
Hypopigmentation of hair, Diabetes mellitus, Short stature, Decreased response to growth hormone ... ORPHA:739
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Ragged-red muscle fibers, Growth delay, Generalized ... OMIM:613561
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture, Myopathy, Intrauterine growth retardation, Failure to thrive OMIM:618237
O'Donnell-Luria-Rodan Syndrome
Aggressive behavior, Kyphosis, Self-injurious behavior, Skin-picking, Prolonged neonatal jaundice OMIM:618512
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Fever, Hyponatremia, Elevated circulating creatine kinase concentr... ORPHA:94093
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, I... OMIM:611705
Vipoma
Anorexia, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the live... ORPHA:97282
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... ORPHA:71212
6Q16 Microdeletion Syndrome
Thick eyebrow, Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Potocki-Lupski Syndrome
Hyperactivity, Small for gestational age, Short stature, Oral-pharyngeal dysphagia, Hypothyroidis... OMIM:610883
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased mus... ORPHA:465508
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair... ORPHA:79474
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Myopathy, Limb... OMIM:612937
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentratio... ORPHA:97240
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Hypercalcemia, Ad... ORPHA:95409
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Spinal rigidity, Angulated muscle fibers, Muscular dy... OMIM:617066
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... OMIM:619477
Congenital Enterovirus Infection
Fever, Hypothermia, Hepatitis, Cholestasis, Hyperammonemia, Hypoalbuminemia, Hepatic failure ORPHA:292
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-off platyspo... OMIM:271530
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration,... OMIM:219080
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay ORPHA:79238
Late-Onset Familial Hypoaldosteronism
Fever, Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticoster... ORPHA:556037
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... ORPHA:352447
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm of the thymus... ORPHA:97289
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79444
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Myopathy ORPHA:157973
Somatostatinoma
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... ORPHA:97283
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Back pain, Aggressive behavio... ORPHA:905
Cebalid Syndrome
Highly arched eyebrow, Thick eyebrow, Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... OMIM:255200
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Scoliosis, Type 1 muscle ... OMIM:608340
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elevated ci... OMIM:618138
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... OMIM:310440
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Growth delay, Hypothermia ORPHA:168593
Sandhoff Disease
Splenomegaly, Hepatomegaly, Failure to thrive, Kyphosis ORPHA:796
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Hepatomegaly, Hypothermia, Low plasma citrulline, Ragged-red muscle fibers, Dysphagia, Hep... ORPHA:255210
Angelman Syndrome
Hyperactivity, Fair hair, Precocious puberty in females, Aggressive behavior, Tongue thrusting, O... ORPHA:72
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Mildly elevated creatine kin... ORPHA:399086
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hyperactivity, Short neck, Precocious puberty, Kyphosis, Hyperlipidemia, Synop... ORPHA:254346
Myopathy, Myofibrillar, 8
Scapular winging, Elevated circulating creatine kinase concentration, Spinal rigidity, Centrally ... OMIM:617258
Moynahan Syndrome
Alopecia, Short stature, Cachexia, Hypogonadism, Sparse hair ORPHA:2574
Muscular Dystrophy, Limb-Girdle, Type 1H
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, I... OMIM:613530
Menkes Disease
Inguinal hernia, Hypopigmentation of hair, Hypoglycemia, Hypothermia, Woolly hair, Aplasia/Hypopl... ORPHA:565
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Short stature, Kyphosis, Obesity, Scoliosis OMIM:616756
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating ... OMIM:608747
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles, Elevated circulating creatine kinase concentration OMIM:609500
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating creatine kinase con... ORPHA:610
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensiti... ORPHA:171876
Congenital Myopathy 18
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... OMIM:620246
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Dysphagia, Abnormal liver parenchyma morphology, Weight loss, Pheoch... ORPHA:1332
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Elevated circ... ORPHA:42
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Restlessness, D... ORPHA:247585
Combined Oxidative Phosphorylation Deficiency 6
Increased serum pyruvate, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Wolman Disease
Fever, Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Growth delay, Adrenal insuffi... ORPHA:75233
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Abnormal muscle fiber morphology, Adrenocortical adenoma, Increased intramy... ORPHA:681
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Thoracic scoliosis, Muscle fiber hyaline bodies, Short stature, Elevated circulating creatine kin... OMIM:255160
Fucosidosis
Hepatomegaly, Failure to thrive, Decreased muscle mass, Lipoatrophy, Kyphosis, Abnormality of the... ORPHA:349
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Short stature, Spinal rigidity, Increas... ORPHA:324604
Ck Syndrome
Hyperactivity, Hyperlordosis, Aggressive behavior, Kyphosis, Scoliosis, Slender build OMIM:300831
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased conn... OMIM:255320
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Facial palsy, Cachexia, Aggressive behavior, Hypogonadism, Dysphagia, Li... ORPHA:97229
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cort... ORPHA:1227
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Hypercalcemia, Elevated circulating ... ORPHA:97278
Man1B1-Cdg
Long eyebrows, Short neck, Sparse eyebrow, Abnormal position of hair whorl, Truncal obesity, Long... ORPHA:397941
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Trisomy 18P
Short stature, Facial palsy, Highly arched eyebrow, Attention deficit hyperactivity disorder, Int... ORPHA:1715
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... OMIM:615084
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Hypothermia, Jaundice, Hyperammonemia, H... ORPHA:79282
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Short stature, Increased connective tissue, Scarring alopecia of scalp, Motheaten muscle fibers, ... OMIM:226670
Alpha-Mannosidosis
Hepatomegaly, Inguinal hernia, Short neck, Splenomegaly, Kyphosis, Macroglossia, Type II diabetes... ORPHA:61
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... ORPHA:254864
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Anorexia, Increa... ORPHA:85138
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, Increased variab... ORPHA:401768
Intellectual Developmental Disorder, Autosomal Dominant 1
Short stature, Highly arched eyebrow, Aggressive behavior, Postnatal growth retardation, Hemivert... OMIM:156200
Zimmermann-Laband Syndrome 3
Thick hair, Kyphosis, Synophrys, Flexion contracture, Low anterior hairline, Long eyelashes, Faci... OMIM:618658
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... ORPHA:54595
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Fatty replacement of ske... OMIM:619790
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Weight loss, Dysphagia ORPHA:2198
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus, Obesity, Spinal canal stenosis, Congenital hypothyroidism, Red ... OMIM:614613
Rabson-Mendenhall Syndrome
Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Fasting hypoglycemia,... ORPHA:769
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... ORPHA:59135
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Severe short stature, Lipoatrophy, Kyphosis, Low posterior hairline, Prem... ORPHA:2617
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... OMIM:613027
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Bronchial Neuroendocrine Tumor
Hepatomegaly, Elevated circulating growth hormone concentration, Anorexia, Increased circulating ... ORPHA:97287
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,... OMIM:603689
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita OMIM:618393
Paternal Uniparental Disomy Of Chromosome 1
Short stature, Abnormal dental enamel morphology, Hypercalcemia, Obesity, Increased blood urea ni... ORPHA:251004
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Congenital muscular dystrophy, Hypogonadism ORPHA:1875
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Increased serum pyruvate, Myopathy, Ragged-red muscle fibers OMIM:545000
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Scarring, Hypothermia, Hiatus hernia, Thick hair, Kyphosis, Jaun... ORPHA:198
Mulibrey Nanism
Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation ORPHA:2576
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... OMIM:610099
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Anorexia, Jaundice, Weight loss, Acholic stools, Cholestatic liver... ORPHA:65682
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Dysphagia, Upper limb muscle weakness, Lower limb hypertonia, Scoliosis... ORPHA:99013
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Kyphosis, Myopathy, Macrovesicular hepatic steatosis, Scoliosis, Failure to thrive OMIM:618234
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Short statu... ORPHA:98908
Dpm3-Cdg
Elevated hepatic transaminase, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle ... ORPHA:263494
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Renpenning Syndrome
Skeletal muscle atrophy, Alopecia, Severe short stature, Diabetes mellitus, Abnormal hairshaft mo... ORPHA:3242
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr... OMIM:306000
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Increas... ORPHA:178148
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Abnormal muscle fiber morphology, Camptodactyly of toe, Umbilical hernia, Hyperg... OMIM:175700
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Skeletal muscle atrophy, Short stature, Splenomegaly, Kyphosis, Fl... ORPHA:87876
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Short stature, Obesity, Scoliosis ORPHA:276630
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79443
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Impaired glucose tolerance, Kyphosis, Pituitary adenoma, Increased circu... OMIM:219090
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Hyperactivity, Short stature, Aggressive behavior, Kyphosis, Macrog... OMIM:300354
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Inguinal hernia, Short stature, Impulsivity, Aggressive behavior, Frequent temper ... OMIM:620141
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Lower limb amyotrop... OMIM:616924
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Spinal rigidity, Elevated circulating creatin... OMIM:617072
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Myopathy, Diabetes mellitus, Left ventricular hypertrophy OMIM:540000
Overlap Myositis
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Diabetes mellitus, Elevat... ORPHA:206572
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Severe shor... ORPHA:3163
Christianson Syndrome
Decreased muscle mass, Cachexia, Inappropriate laughter, Dysphagia, Arthrogryposis multiplex cong... ORPHA:85278
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ano... ORPHA:100085
Grfoma
Anorexia, Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increase... ORPHA:97261
Ethylene Glycol Poisoning
Cyanosis, Facial palsy, Hypothermia, Hyperkalemia, Addictive alcohol use, Hypocalcemia ORPHA:31826
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Alopecia, Short stature, Postnatal growth retardation, Thyroiditis... OMIM:212750
Mcdonough Syndrome
Short stature, Cachexia, Kyphosis, Synophrys, Aplasia/Hypoplasia of the abdominal wall musculatur... ORPHA:2471
Rhabdomyolysis, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, R... OMIM:620235
Typical Nemaline Myopathy
Elevated circulating creatine kinase concentration, Facial palsy, Hyperlordosis, Short neck, Kyph... ORPHA:171436
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick hair, Kyphosis, Synophrys, Low posterior hairline, Truncal obesity, Scoliosis, Thick eyebrow ORPHA:2429
Kleefstra Syndrome 2
Kyphosis, Growth delay, Self-injurious behavior, Scoliosis, Thick eyebrow OMIM:617768
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers, Slender build, Cachexia, Weight loss OMIM:613662
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Short neck, Kyphosis, Facial diplegia, Scoliosis, Arthrogryposis multipl... OMIM:611890
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Congenital fibrosis of extraocular muscles, Highly arched eyebrow OMIM:609384
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Severe short stature, Thoracolumbar scoliosis, Kyphosis, Knee flexion contractur... OMIM:313420
15Q24 Microdeletion Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap... ORPHA:94065
Reticular Dysgenesis
Fever, Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss ORPHA:33355
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... OMIM:609813
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hypoalbuminemia, H... ORPHA:79319
Miyoshi Muscular Dystrophy 1
Elevated circulating creatine kinase concentration, Distal amyotrophy, Muscular dystrophy, Lower ... OMIM:254130
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm... ORPHA:264580
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Subcutaneous lipoma, Hypercalcemia, El... ORPHA:97280
Gm1 Gangliosidosis
Inguinal hernia, Short stature, Camptodactyly of finger, Hyperlordosis, Splenomegaly, Kyphosis, A... ORPHA:354
Immunodeficiency 27A
Fever, Anorexia, Splenomegaly, Weight loss, Hepatosplenomegaly, Hypoalbuminemia OMIM:209950
Polymyositis
Fever, Hepatomegaly, Elevated circulating creatine kinase concentration, Anorexia, Abnormal muscl... ORPHA:732
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Back pain, Fever, Hypoglycemia, Elevated circulating creatine kina... ORPHA:99826
Kearns-Sayre Syndrome
Progressive intervertebral space narrowing, Skeletal muscle atrophy, Anterior hypopituitarism, Ra... ORPHA:480
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Rhizomelia, Short neck, Weight loss, Severe short-limb dwarfism, Hernia, Failure to... ORPHA:1842
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature adrenarche, Hyponatremia, Hypogonadotropic hypogo... ORPHA:90794
Poems Syndrome
Diabetes mellitus, Lipodystrophy, Abnormality of the endocrine system, Primary adrenal insufficie... ORPHA:2905
Eosinophilic Fasciitis
Myositis, Fasciitis, Weight loss, Cellulitis, Muscular edema, Acrocyanosis ORPHA:3165
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... ORPHA:556030
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Hypoalbuminemia... ORPHA:507
Hall-Riggs Syndrome
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine growth retardatio... OMIM:234250
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Short... ORPHA:79240
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated hepatic transaminase, Left ventricular hypertrophy, Elevated circulating aspartate amino... OMIM:300280
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis ORPHA:101075
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Diabetes mellitus, Abnormality of the thyroid gland, Ragged-red muscle fibers, Limb muscle weakne... OMIM:609286
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss, Increased serum serotonin, At... ORPHA:100080
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Inguinal hernia, Short stature, Camptodactyly of finger, Cachexia, Aggressive beha... ORPHA:85293
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Fever, Weight loss ORPHA:100024
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Short stature, Elevated circulating creatine kinase concentration, Hyperlordosis, Fatty replaceme... ORPHA:52430
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Severe short stature, Proportionate short stature, Weight loss, Knee fle... ORPHA:3208
Winchester Syndrome
Kyphosis, Hirsutism OMIM:277950
Cryptogenic Organizing Pneumonia
Fever, Cyanosis, Anorexia, Elevated circulating C-reactive protein concentration, Weight loss, Hy... ORPHA:1302
X-Linked Agammaglobulinemia
Fever, Alopecia, Short stature, Hepatitis, Weight loss, Hypocalcemia, Cellulitis, Failure to thrive ORPHA:47
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Abnormality of the musculature of the lower limbs, Short stature, Absent pubertal growth spurt, P... ORPHA:464282
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Back pain, Abnormal thoracic spine morphology, Torticollis, Elevated ca... ORPHA:370348
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Elevated circulating creatine kinase concentration, Hyperlordosis, Skeletal muscle hypertrophy, C... OMIM:613157
Luscan-Lumish Syndrome
Short stature, Aggressive behavior, Obesity, High anterior hairline, Polyphagia, Hirsutism OMIM:616831
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Steatorrhea, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hyper... OMIM:602579
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Back pain, Pancreatic adenocarcinoma, Diabetes mellitus, Anorexia,... ORPHA:1333
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Elevated circulating creatine kinase concentration, Facial palsy, Hand muscle w... ORPHA:254886
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Short sta... OMIM:613986
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Lipoatrophy, Short stature, Decreased serum leptin, Sparse eyelashes... OMIM:614008
Beta-Ketothiolase Deficiency
Fever, Hepatomegaly, Hypoglycemia, Anorexia, Hyperammonemia, Weight loss, Agitation, Hyperuricemi... ORPHA:134
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Fasciitis, Hyperactivity, Unexplained fevers, Impulsivity, Hypothermia, Corneal scar... ORPHA:642
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroid... OMIM:619487
Silver-Russell Syndrome
Decreased muscle mass, Failure to thrive in infancy, Short stature, Cachexia, Precocious puberty,... ORPHA:813
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Hyperlordosis, Increased circulating ferritin concentration, Ragged-red muscle ... OMIM:600462
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Facial palsy, Ragged... OMIM:258450
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Skeletal muscle atrophy, Facial hypertrichosis... ORPHA:508
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:612999
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Facial palsy, Mildly elevated creatine kinase, Proximal amyotrophy OMIM:610542
Classic Hodgkin Lymphoma
Fever, Hepatomegaly, Anorexia, Splenomegaly, Weight loss ORPHA:391
Metatropic Dysplasia
Relatively short spine, Severe short stature, Kyphoscoliosis, Hypoplasia of the odontoid process,... OMIM:156530
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Growth delay, Hypothermia OMIM:608800
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated hepatic transaminase, Skeletal muscle atrophy, Elevated circulating creatine kinase conc... OMIM:620138
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Short stature, Elevated circulating creatine kinase concentration, Centrally nucleated skeletal m... OMIM:619518
Zimmermann-Laband Syndrome 2
Thick eyebrow, Short stature, Short neck, Kyphosis, Synophrys, Widow's peak, Macroglossia, Long e... OMIM:616455
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Short stature, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of l... OMIM:230650
Pleural Mesothelioma
Hepatomegaly, Weight loss, Dysphagia ORPHA:50251
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Diencephalic Syndrome
Abnormality of the hypothalamus-pituitary axis, Cachexia, Decreased body weight ORPHA:1672
Progressive Nodular Histiocytosis
Fever, Cachexia ORPHA:158022
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Short stature, Albinism, Kyphosis, Platyspondyly ORPHA:2786
13Q12.3 Microdeletion Syndrome
Hyperactivity, Short stature, Kyphoscoliosis, Congenital diaphragmatic hernia, Obesity, Camptodac... ORPHA:412035
Myofibrillar Myopathy 10
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Kyphosis, Elbow fl... OMIM:619040
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia ORPHA:1216
Masa Syndrome
Kyphosis, Short stature, Hyperlordosis OMIM:303350
Focal Myositis
Fever, Myositis, Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
Lopes-Maciel-Rodan Syndrome
Kyphosis, Bruxism, Agitation, Scoliosis, Dysphagia, Abnormal repetitive mannerisms OMIM:617435
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Caroli Disease
Fever, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexi... ORPHA:53035
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Short stature, Impulsivity, Aggressive behavior, Overweight, Kyphosis, Flexion... ORPHA:500055
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Rhabdomyolysis, Hyp... OMIM:618416
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Short stature, Cachexia, Short neck, Elbow flexion contracture, Knee flexion con... ORPHA:371364
Huntington Disease-Like 2
Weight loss ORPHA:98934
7Q11.23 Microduplication Syndrome
Inguinal hernia, Collectionism, Hyperactivity, Sacral dimple, Congenital diaphragmatic hernia, Ag... ORPHA:96121
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Glycogen Storage Disease Due To Aldolase A Deficiency
Fever, Exercise-induced rhabdomyolysis, Decreased muscle mass, Hyperkalemia, Growth delay, EMG: m... ORPHA:57
Adult-Onset Autosomal Dominant Leukodystrophy
Temperature instability, Flexion contracture, Hypothermia, Dysphagia ORPHA:99027
Alexander Disease Type I
Cachexia, Failure to thrive, Scoliosis, Dysphagia ORPHA:363717
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Kyphosis, Dysphagia, Limb hypertonia ORPHA:500180
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Centrally nucleated skele... OMIM:620351
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Kyphoscoliosis, Splenomegaly, Synophrys, Ovoid thoracolumbar vertebr... OMIM:252930
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Ankle flexion contracture, Hypercapnia, Hyperlordosis, Kyphos... ORPHA:2020
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Lumbar hyperlordosis, Short neck, Aggressive behavior, Postnatal growth retardation... ORPHA:251028
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Abnormality of temperature regulation, Weight loss ORPHA:42642
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Fever, Weight loss ORPHA:545
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Fever, Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jau... ORPHA:90790
Rhabdoid Tumor
Fever, Neoplasm of the liver, Hypercalcemia, Weight loss ORPHA:69077
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Slender build, Attention deficit hyperactivity disorder, Scoliosis, Recurrent hand... OMIM:617600
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated muscle fibers, Intrinsic ha... OMIM:620285
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis, Compulsive b... OMIM:615761
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac... OMIM:607155
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Facial palsy, Short stature, Hyperlordosi... ORPHA:3068
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... OMIM:614921
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Moderate... ORPHA:69076
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss, Increased serum serotonin, At... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss, Increased serum serotonin, At... ORPHA:100082
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Short stature, Postna... OMIM:616113
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Atrophic scars, Sc... OMIM:130060
4Q21 Microdeletion Syndrome
Short neck, Kyphosis, Synophrys, Growth delay, Self-injurious behavior, Long eyelashes, Scoliosis... ORPHA:238750
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers, Motor tics OMIM:500003
Ruvalcaba Syndrome
Inguinal hernia, Short stature, Kyphosis, Scoliosis, Delayed puberty OMIM:180870
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Short stature, Kyphosis, Obesity, Scoliosis, Foot dorsiflexor weakness OMIM:618124
Glycogen Storage Disease Xii
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Short neck, Sple... OMIM:611881
Hypoadrenocorticism, Familial
Hyponatremia, Cyanosis, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency OMIM:240200
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia, Elevated cir... OMIM:618838
Whipple Disease
Fever, Hepatomegaly, Hyponatremia, Myositis, Anorexia, Cachexia, Splenomegaly, Insulin resistance... ORPHA:3452
Juvenile Huntington Disease
Hyperactivity, Weight loss ORPHA:248111
Anaplastic Thyroid Carcinoma
Weight loss, Abnormal skeletal muscle morphology, Anaplastic thyroid carcinoma, Dysphagia, Nodula... ORPHA:142
Combined Oxidative Phosphorylation Deficiency 28
Increased serum pyruvate, Ragged-red muscle fibers OMIM:616794
Isaacs Syndrome
Calf muscle hypertrophy, Weight loss ORPHA:84142
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Limb muscle weaknes... OMIM:609560
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Restlessness, Ragged-red muscle fibers OMIM:615159
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachexia, Short neck, Scoliosis,... OMIM:616801
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Short stature, Ragged-red muscle fibers, Flexion contracture, Left ventricular noncompaction, Inc... OMIM:252011
Sarcoidosis
Fever, Hepatomegaly, Alopecia, Hyperthyroidism, Diabetes insipidus, Scarring, Portal hypertension... ORPHA:797
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Intermittent hypothermia, Tongue thrusting, Temperature instability, Limb hypertonia OMIM:608643
Atypical Rett Syndrome
Restrictive behavior, Kyphosis, Tongue thrusting, Growth delay, Agitation, Inappropriate laughter... ORPHA:3095
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Multicentric Reticulohistiocytosis
Fever, Cachexia ORPHA:139436
Heart Defects-Limb Shortening Syndrome
Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom... ORPHA:1354
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive, Upper limb hypertonia ORPHA:319199
Myopathy, Centronuclear, 4
Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predominance, Centrally n... OMIM:614807
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Hypercalcemia, Primary hyperparathyroidism, Abnormal parathyroid morph... ORPHA:143
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Dysphagia ORPHA:477774
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Short stature, Hypothermia, Decreased serum iron, Abnormality of the endocrine system, Precocious... ORPHA:438213
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis, Skeletal muscle atrophy ORPHA:101078
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Hypothyroidism, Self-inju... ORPHA:449291
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Multiple lipomas, Ragged-red muscle fibers, Increased adipose tissue ORPHA:1349
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Small for gestationa... OMIM:609152
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... OMIM:614098
Alveolar Echinococcosis
Fever, Low back pain, Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal... ORPHA:284
Weaver Syndrome
Inguinal hernia, Diastasis recti, Kyphosis, Fine hair, Scoliosis, Camptodactyly, Sparse hair, Umb... OMIM:277590
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Hyperthyroidism, Short stature, Thick hair, Increased variability in muscle fiber diameter, Growt... ORPHA:502423
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Short stature, Weight loss ORPHA:388
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... OMIM:617093
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Kyphosis,... ORPHA:2635
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Increased circulating gonadotropin level, Absence of secondary sex... ORPHA:785
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Rhabdomyolysis, Weight loss, Hypokalemia, Goiter OMIM:188580
Urban-Rogers-Meyer Syndrome
Short stature, Camptodactyly of finger, Short neck, Kyphosis, Obesity, Hypogonadism, Flexion cont... ORPHA:3409
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Hypothyroidism, Mildly elevated... ORPHA:663
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Large for gestational age, Centrally nucleated skeletal ... ORPHA:169189
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures ORPHA:3454
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Highly elevated creatine kinase, Myopathy, Increased variability in muscle fiber diameter, Centra... OMIM:618992
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Hyperlordosis, Myopathy, Abnormal circulating creati... ORPHA:369840
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l... ORPHA:171881
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Adrenal insufficiency, Disi... ORPHA:43
Cystinosis, Nephropathic
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Hypophosphatemic rickets, Male hypogonadism, ... OMIM:219800
Mitochondrial Complex I Deficiency, Nuclear Type 21
Growth delay, Myopathy, Ragged-red muscle fibers OMIM:618242
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Hernia, Weight loss ORPHA:26790
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration... OMIM:261680
1P36 Deletion Syndrome
Abnormality of the spleen, Abnormality of the liver, Hepatic steatosis, Abnormal repetitive manne... ORPHA:1606
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Inguinal hernia, Hyperactivity, Splenomegaly, Synophrys, Ovoid thoracolumbar verteb... OMIM:252900
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Increased circulating ACTH level, Weight l... ORPHA:100075
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Cachexia, Anorexia, Splenomegaly, Dystrophic toenail, Patchy alopecia, Dy... ORPHA:2930
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Short stature, Decreased response to growth hormone stimulation test, Facial palsy... OMIM:615873
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypoplastic vertebral b... OMIM:252940
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia, Short stature ORPHA:66518
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Failure to thrive, Flexion contracture, Elevated circulating creatine kinas... OMIM:620240
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Decreased serum estradiol, Small hypothenar eminence, Streak ovary, Lumbar hy... ORPHA:2232
Congenital Myasthenic Syndrome
Neuropathic spinal arthropathy, Cyanosis, Kyphoscoliosis, Spinal rigidity, Limb-girdle muscle wea... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Neuropathic spinal arthropathy, Cyanosis, Kyphoscoliosis, Spinal rigidity, Limb-girdle muscle wea... ORPHA:98914
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Short stature, Facial palsy, Short neck, Kyphosis, Achilles tendon contracture, ... OMIM:301041
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... ORPHA:652
Sjögren-Larsson Syndrome
Kyphosis, Short stature, Abnormal dental enamel morphology, Scoliosis ORPHA:816
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement... ORPHA:329478
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Scolio... OMIM:619574
Arthrogryposis, Distal, Type 5
Decreased muscle mass, Short stature, Kyphosis, Distal arthrogryposis, Firm muscles, Scoliosis, C... OMIM:108145
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Cockayne Syndrome Type 2
Hepatomegaly, Scarring, Kyphosis, Flexion contracture, Limb hypertonia, Scoliosis, Male hypogonad... ORPHA:90322
Crisponi Syndrome
Camptodactyly of finger, Kyphosis, Flexion contracture, Malignant hyperthermia, Scoliosis ORPHA:1545
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... OMIM:131100
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Short stature, Elevated circulating creatine kinase concentration, Thick hair, G... OMIM:617675
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Cachexia, Upper-limb joint contracture, Lower-limb joint contracture, Di... ORPHA:300605
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression ORPHA:330054
Nodular Non-Suppurative Panniculitis
Fever, Hepatomegaly, Splenomegaly, Weight loss, Panniculitis ORPHA:33577
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Thick eyebrow, Aggressive behavior, Kyphosis, Synophrys, Low anterior hairline,... OMIM:617061
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatic fibrosis, Hypoalbuminemia, Generalized amyotrophy, Neoplasm of the... ORPHA:171
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Synophrys, Scoliosis, Hypertrichosis ORPHA:85317
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Severe short stature, Short stature, ... OMIM:253220
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Hyponatremia, Fatal liver failure in infancy, Hypertriglyceridemia... ORPHA:275761
Bruck Syndrome 1
Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, V... OMIM:259450
Adnp Syndrome
Sparse scalp hair, Inguinal hernia, Short stature, Aggressive behavior, Oral-pharyngeal dysphagia... ORPHA:404448
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Becker Nevus Syndrome
Lipoatrophy, Supernumerary nipple, Kyphosis, Scoliosis, Spina bifida occulta, Shoulder girdle mus... ORPHA:64755
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Abnormal circulating creatine concentration,... ORPHA:440437
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... OMIM:227810
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi... OMIM:616479
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Steatorrhea, Weight loss, Hypoalbuminemia,... ORPHA:2070
Rett Syndrome
Skeletal muscle atrophy, Short stature, Cachexia, Kyphosis, Scoliosis, Bruxism, Stereotypical han... OMIM:312750
Hurler-Scheie Syndrome
Hepatomegaly, Inguinal hernia, Short stature, Camptodactyly of finger, Thenar muscle atrophy, Con... OMIM:607015
Acute Monoblastic/Monocytic Leukemia
Fever, Weight loss, Anorexia, Central hypothyroidism ORPHA:514
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Short stature, Hypo... OMIM:616026
Wieacker-Wolff Syndrome
Short stature, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, D... OMIM:314580
Holocarboxylase Synthetase Deficiency
Alopecia, Anorexia, Hyperammonemia, Weight loss, Growth delay ORPHA:79242
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Fever, Panniculitis, Hepatosplenomegaly ORPHA:86884
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal musc... ORPHA:169186
Srd5A3-Cdg
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Abnormal ha... ORPHA:324737
Sialidosis Type 1
Skeletal muscle atrophy, Short stature, Splenomegaly, Kyphosis, Abnormal form of the vertebral bo... ORPHA:812
Majeed Syndrome
Fever, Hepatomegaly, Cachexia, Splenomegaly, Flexion contracture, Weight loss, Failure to thrive ORPHA:77297
Snakebite Envenomation
Hyponatremia, Rhabdomyolysis, Neuromuscular dysphagia, Pseudobulbar paralysis, Muscle fiber necro... ORPHA:449285
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hypoglycemia, Short stature, ... OMIM:232200
8P23.1 Microdeletion Syndrome
Short stature, Congenital diaphragmatic hernia, Short neck, Obesity, Weight loss, Growth delay, A... ORPHA:251071
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... ORPHA:424
Takayasu Arteritis
Fever, Anorexia, Weight loss ORPHA:3287
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated hepatic transaminase, Diabetes mellitus, Hyperthyroidism, Elevated circulating creatine ... ORPHA:254892
Immunodeficiency 31C
Fever, Hepatomegaly, Skeletal muscle atrophy, Diabetes mellitus, Short stature, Splenomegaly, Wei... OMIM:614162
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Myofibrillar myopathy, E... OMIM:609452
Mucolipidosis Iii Gamma
Short stature, Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Scoliosis OMIM:252605
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... OMIM:615418
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Short stature, Camptodactyly of finger, Kyphosis, Coarse hair, Joint contracture of... ORPHA:1883
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... OMIM:615422
Kaposi Sarcoma
Fever, Abnormality of the spleen, Abnormality of the liver, Weight loss ORPHA:33276
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger,... ORPHA:2311
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Frontal balding, Weakness of facial musculatu... OMIM:602668
2P15P16.1 Microdeletion Syndrome
Inguinal hernia, Camptodactyly of finger, Facial palsy, Supernumerary nipple, Sparse eyebrow, Kyp... ORPHA:261349
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia, Ty... OMIM:613845
Pycnodysostosis
Decreased serum insulin-like growth factor 1, Rhizomelia, Decreased response to growth hormone st... ORPHA:763
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Thoracic scoliosis, Nemaline bodies, Abnormality of skeletal muscle fibe... OMIM:620278
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Myositis, Scapular winging, Elevated circulating creatine kinase concent... ORPHA:206569
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypergonadotropic hypogonadism, K... OMIM:212065
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Short stature, Cachexia, Anorexia, Abnormality of the thyroid gland, Kyp... ORPHA:1969
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Fever, Portal hypertension, S... ORPHA:131
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Inguinal hernia, Ovoid vertebral bodies, Short neck, Grayish enamel, Hyperlordosis,... OMIM:253000
Megalocornea-Intellectual Disability Syndrome
Short stature, Kyphosis, Hypothyroidism, Scoliosis, Hypercholesterolemia, Abnormal repetitive man... ORPHA:2479
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Short neck, Low ante... ORPHA:800
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia OMIM:612469
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... ORPHA:565612
Lynch Syndrome
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Weig... ORPHA:144
Ruvalcaba Syndrome
Inguinal hernia, Kyphosis, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis morphology, G... ORPHA:3121
Primary Myelofibrosis
Fever, Hepatomegaly, Anorexia, Portal hypertension, Cachexia, Splenomegaly, Low-grade fever, Hepa... ORPHA:824
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Hypoglycemia, Short stature, Cachexia, M... ORPHA:109
Myopathy, Centronuclear, 5
Hip contracture, Abnormal circulating creatine kinase concentration, Weakness of facial musculatu... OMIM:615959
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co... ORPHA:99885
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Sacral dimple, Large for gestational age, Kyphosis, Umbilical hernia OMIM:618272
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypercalcemia, Paraganglioma, Weight loss ORPHA:94080
Camurati-Engelmann Disease
Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Anorexia, Hyperlordosis, Cachexia, Splenomeg... ORPHA:1328
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Short stature, Elevated circulating creatine kinase concentration, Cache... ORPHA:1933
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Severe short stature, Incre... ORPHA:93314
Shashi-Pena Syndrome
Hypoglycemia, Highly arched eyebrow, Kyphosis, Synophrys, Hypertrichosis, Limb hypertonia, Long e... OMIM:617190
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hyperactivity, Failure to thrive, S... ORPHA:209905
X-Linked Intellectual Disability Due To Gria3 Mutations
Short stature, Facial hypotonia, Aggressive behavior, Kyphosis, Scoliosis, Abnormality of muscle ... ORPHA:364028
Lymphoid Interstitial Pneumonia
Fever, Hepatomegaly, Weight loss, Hypoxemia, Abnormality of connective tissue, Failure to thrive ORPHA:79128
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Severe short stature, Cachexia, Absence of subcutaneous fat, Corne... OMIM:610965
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Hypercapnia, Facial pals... OMIM:164310
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Low anterior hairline, Obesity, Hyperuricemia, Attention deficit hyperactivity disorder ORPHA:261222
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, Dentinogenesis imp... OMIM:259440
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Dysphagia, Arthrogryposis multiplex c... OMIM:617143
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Fever, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint morpholog... ORPHA:324964
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Increased connective tissue, ... ORPHA:258
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Disproportionate short-trunk short st... ORPHA:583
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Short stature, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, Obesity... OMIM:618443
Idiopathic Chronic Eosinophilic Pneumonia
Hypoxemia, Fever, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:2902
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertriglyceridemia, ... ORPHA:536532
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... ORPHA:596
Baralle-Macken Syndrome
Kyphosis, Obesity, Hirsutism OMIM:619255
Pelger-Huet Anomaly
Kyphosis, Lower limb hypertonia, Umbilical hernia, Failure to thrive, Mild short stature, Foot do... OMIM:169400
Acquired Central Diabetes Insipidus
Polydipsia, Diabetes insipidus, Weight loss ORPHA:95626
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Lower limb hypertonia, Upper limb hypertonia, Hypertrichosis OMIM:614898
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Weight loss, Macroglossia, Gene... ORPHA:2221
Diastrophic Dysplasia
Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Intrauterine... ORPHA:628
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... ORPHA:85327
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Kyphosis, Scoliosis ORPHA:99014
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Fever, Liver abscess, Elevated circulating C-reactive protein conc... ORPHA:54251
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Diaphragmatic eventration, Spinal muscular atrophy, Flexion contracture, Increased variability in... OMIM:616866
Frank-Ter Haar Syndrome
Inguinal hernia, Camptodactyly of finger, Kyphosis, Scoliosis, Umbilical hernia, Beaking of verte... ORPHA:137834
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short stature, Slow-growing hair, Short neck, Abnormal hair morphology, Kyphosis, Uncombable hair... ORPHA:3082
Huntington Disease-Like 2
Weight loss OMIM:606438
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Weight loss ORPHA:66661
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Limb muscle weakness, Lower limb muscle weakness, Scoliosis OMIM:614409
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Small for gestational age, Short s... OMIM:307030
Alström Syndrome
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t... ORPHA:64
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... OMIM:609069
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Disproportio... OMIM:313400
Amyotrophic Lateral Sclerosis 21
Elevated circulating creatine kinase concentration, Hand muscle weakness, Centrally nucleated ske... OMIM:606070
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis, Dysph... OMIM:128100
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Congenital muscular torticollis, Vaginal hernia, Short stature, Abnormal dental... ORPHA:2916
Gm1-Gangliosidosis, Type I
Hepatomegaly, Inguinal hernia, Severe short stature, Short neck, Splenomegaly, Kyphosis, Hypoplas... OMIM:230500
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Myositis, Hyperthyroidism, Failure to thrive in infancy, Alopecia,... ORPHA:37042
Hemifacial Atrophy, Progressive
Kyphosis, Patchy alopecia, Poliosis OMIM:141300
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Alg1-Cdg
Kyphosis, Hypoalbuminemia, Decreased liver function, Scoliosis ORPHA:79327
Allergic Bronchopulmonary Aspergillosis
Low-grade fever, Weight loss ORPHA:1164
Huntington Disease-Like 1
Restlessness, Weight loss ORPHA:157941
Achondroplasia
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Disproportionate short stature, Spinal canal stenosis... ORPHA:15
Diffuse Alveolar Hemorrhage
Hypoxemia, Fever, Elevated circulating creatinine concentration, Weight loss ORPHA:90060
Giant Cell Arteritis
Fever, Alopecia, Anorexia, Weight loss, Hepatic failure, Diabetes insipidus ORPHA:397
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Short stature, Scoliosis ORPHA:1858
Coenzyme Q10 Deficiency, Primary, 1
Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Ragged-red mu... OMIM:607426
Kearns-Sayre Syndrome
Hypoparathyroidism, Diabetes mellitus, Short stature, Ragged-red muscle fibers, Primary adrenal i... OMIM:530000
Weismann-Netter Syndrome
Severe short stature, Abnormality of the thyroid gland, Kyphosis, Abnormal form of the vertebral ... ORPHA:3344
Creatine Phosphokinase, Elevated Serum
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Myopathy, I... OMIM:123320
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Hypocalcemia, Cachexia, Short neck ORPHA:1438
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypoxemia, Fever, Weight loss ORPHA:79127
Gallbladder Neuroendocrine Tumor
Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, C... ORPHA:100086
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... ORPHA:103918
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contractur... OMIM:618291
Marden-Walker Syndrome
Inguinal hernia, Decreased muscle mass, Short neck, Postnatal growth retardation, Kyphosis, Conge... OMIM:248700
Gaucher Disease Type 1
Hepatomegaly, Anorexia, Hypersplenism, Splenomegaly, Kyphosis, Growth delay, Cirrhosis, Delayed p... ORPHA:77259
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Pheochromocytoma, Scoliosis, Ele... OMIM:162300
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Hepatomegaly, Fever, Weight loss ORPHA:3226
Hypomelanosis Of Ito
Kyphosis, Alopecia, Scoliosis OMIM:300337
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Synophrys, Hirsutism, Scoliosis OMIM:300861
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Attention deficit hyperactivity disorder OMIM:615433
Developmental Malformations-Deafness-Dystonia Syndrome
Short stature, Kyphosis, Macroglossia, Scoliosis, Dysphagia ORPHA:79107
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Facial palsy, Ragged-red muscle fibers, ... OMIM:157640
Difference Of Sex Development-Intellectual Disability Syndrome
Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low posterior hairline, Hypogonadism, Spi... ORPHA:2983
Rhizomelic Syndrome, Urbach Type
Abnormal hair quantity, Rhizomelia, Short stature, Short neck, Kyphosis, Abnormal form of the ver... ORPHA:3098
Koolen-De Vries Syndrome
Vertebral fusion, Hypopigmentation of hair, Short stature, Abnormal dental enamel morphology, Abn... ORPHA:96169
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Kyphosis, Hepatosplenomegaly, Failure to thrive OMIM:608776
Melas
Hypoparathyroidism, Fever, Diabetes mellitus, Hypogonadotropic hypogonadism, Short stature, Ragge... ORPHA:550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... OMIM:616812
X-Linked Creatine Transporter Deficiency
Hyperactivity, Short stature, Cachexia, Abnormal circulating creatine concentration, Self-mutilation ORPHA:52503
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Attention deficit hyperactivity disorder, Dysphagia ORPHA:216866
Woodhouse-Sakati Syndrome
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant ... ORPHA:3464
Refractory Celiac Disease
Elevated hepatic transaminase, Weight loss, Hypophosphatemia, Hypoalbuminemia, Hypocalcemia, Hypo... ORPHA:398063
3C Syndrome
Inguinal hernia, Short stature, Adrenal hypoplasia, Short neck, Postnatal growth retardation, Kyp... ORPHA:7
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Frontal upsweep of hair, Scoliosis OMIM:619797
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Small for gestational age, Short stature, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Ab... ORPHA:93360
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:1548
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... ORPHA:600
Bruck Syndrome
Short stature, Kyphosis, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita ORPHA:2771
Tetrasomy 12P
Short stature, Cachexia, Short neck, Sparse eyebrow, Sparse hair ORPHA:884
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Aggressive behavior, Kyphosis, Synophrys, Attention deficit hyperactivity disorder... ORPHA:476126
Emanuel Syndrome
Inguinal hernia, Sacral dimple, Torticollis, Congenital diaphragmatic hernia, Kyphosis, Scoliosis... OMIM:609029
Polyarteritis Nodosa
Fever, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:767
Rheumatoid Arthritis
Fever, Digital flexor tenosynovitis, Elevated circulating C-reactive protein concentration, Weigh... OMIM:180300
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... ORPHA:85450
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Severe short stature, Scoliosis OMIM:112350
Aggressive Systemic Mastocytosis
Anorexia, Portal hypertension, Hypersplenism, Hepatosplenomegaly, Weight loss, Decreased liver fu... ORPHA:98850
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Fever, Hepatitis, Thyroiditis, Weight loss ORPHA:139402
Koolen-De Vries Syndrome
Vertebral fusion, Hyperactivity, Sacral dimple, Small for gestational age, Short stature, Impulsi... OMIM:610443
Arthrogryposis, Distal, Type 4
Torticollis, Kyphosis, Low anterior hairline, Low posterior hairline, Camptodactyly of 2nd-5th fi... OMIM:609128
Nephroblastoma
Fever, Neoplasm of the liver, Weight loss ORPHA:654
Atelis Syndrome 2
Sacral dimple, Kyphosis, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... OMIM:620185
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ... ORPHA:786
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Inguinal hernia, Severe short stature, Short stature, Short neck, Splenomegaly, Kyp... OMIM:309900
Igg4-Related Aortitis
Fever, Low back pain, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:449400
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Anorexia, Hypokalemia, Hypocalcemia, Nail dystrophy, Hypomagnesemia OMIM:175500
Pelizaeus-Merzbacher Disease
Short stature, Failure to thrive in infancy, Cachexia, Kyphosis, Scoliosis ORPHA:702
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Flexion contracture, Facial diplegia, Arthrogryposis multiplex ... OMIM:618186
Desbuquois Dysplasia 1
Severe short stature, Hyperlordosis, Short neck, Kyphosis, Obesity, Growth delay, Platyspondyly, ... OMIM:251450
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Kyphosis, Abnormal mesentery morphology, Abnormality of the gall... ORPHA:2075
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Umbilical hernia, Kyphosis, Scoliosis ORPHA:2181
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Inguinal hernia, Severe short stature, Congenital muscular torticollis, ... ORPHA:2215
Oromandibular Dystonia
Torticollis, Weight loss, Dysphagia, Bruxism ORPHA:93958
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Scoliosis OMIM:300676
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Dry hair, Short stature, Diastasis recti, Postnatal growth reta... ORPHA:576
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Low anterior hairline, Dysphagia, Intrauterine growth retardation, Limb hypertonia OMIM:619909
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Flexion contracture, Low-grade fever, Weight loss, Hepatosplen... ORPHA:85408
Hurler Syndrome
Hepatomegaly, Inguinal hernia, Short stature, Short neck, Splenomegaly, Hypoplasia of the odontoi... OMIM:607014
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Fatal Familial Insomnia
Fever, Weight loss, Dysphagia OMIM:600072
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Short stature, Splenomegaly, Weight loss, Hepatosplenomegaly, Hyperbilirubinemia, U... OMIM:613673
Thymic Carcinoma
Neoplasm of the thymus, Weight loss ORPHA:99868
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplasia ... OMIM:253010
Eosinophilic Granulomatosis With Polyangiitis
Fever, Myositis, Weight loss, Dysphagia, Acrocyanosis ORPHA:183
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Hypercholesterolemia, Camptodactyly of finger, Short stature, Aggressive behav... OMIM:309000
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Severe short stature, Abnormal dental enamel morphology, Kyphosis, Moderate postnatal g... ORPHA:1005
Klatskin Tumor
Fever, Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss ORPHA:99978
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Oral-pharyngeal d... ORPHA:273
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Elevated circulating creatine kinase concentration, Centrally nucleate... OMIM:615368
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Erdheim-Chester Disease
Fever, Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, Weight loss, Xanthelasma, Polydip... ORPHA:35687
Perry Syndrome
Inappropriate behavior, Disinhibition, Weight loss OMIM:168605
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Cowden Syndrome 5
Hyperthyroidism, Kyphosis, Thyroiditis, Thyroid adenoma, Scoliosis, Hypothyroidism, Subcutaneous ... OMIM:615108
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Compulsive behaviors, Abnormal repetitive mannerisms, Hyponat... ORPHA:534
Autoimmune Pulmonary Alveolar Proteinosis
Fever, Abnormal circulating protein concentration, Cyanosis, Weight loss, Hypoxemia ORPHA:747
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic... OMIM:619377
Glucose-Galactose Malabsorption
Fever, Hypercalcemia, Weight loss, Hypernatremia, Failure to thrive ORPHA:35710
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating deoxyuridine concentration, Cachexia, Ragged-red muscle fibers, Weight loss,... OMIM:603041
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Growth delay, Macroglossia, Scoliosis, Abnormal repetitive mannerisms ORPHA:261144
Mucopolysaccharidosis Type 4
Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Grayish enamel, Kyph... ORPHA:582
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Microsporidiosis
Fever, Myositis, Cholangitis, Anorexia, Cachexia, Abnormality of the spleen, Abnormality of the p... ORPHA:2552
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Anorexia, Weight loss ORPHA:2494
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
3M Syndrome
Scapular winging, Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, In... ORPHA:2616
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Disproportionate short-limb short ... ORPHA:2655
Native American Myopathy
Skeletal muscle atrophy, Short stature, Abnormality of skeletal muscle fiber size, Malignant hype... ORPHA:168572
Intellectual Developmental Disorder, Autosomal Dominant 57
Short stature, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Att... OMIM:618050
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Congenital hypothyroidism, Contractures of the large joints, Dysphagia, Failure to thri... OMIM:617527
Turner Syndrome Due To Structural X Chromosome Anomalies
Short neck, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alop... ORPHA:99413
Mosaic Monosomy X
Short neck, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alop... ORPHA:99228
Monosomy X
Short neck, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alop... ORPHA:99226
Turner Syndrome
Short neck, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alop... ORPHA:881
Osteosarcoma
Fever, Weight loss ORPHA:668
Igg4-Related Retroperitoneal Fibrosis
Fever, Low back pain, Anorexia, Elevated circulating C-reactive protein concentration, Elevated c... ORPHA:49041
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hypoglycem... OMIM:276700
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Synophrys, Abnormal curvature of the vertebral column, Tics, Compulsive behaviors, Abn... OMIM:619475
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration OMIM:619024
Inflammatory Bowel Disease (Crohn Disease) 1
Growth delay, Weight loss OMIM:266600
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Postnatal growth retardation, Micronodular cirrhosis, Chol... OMIM:207800
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Highly arched eyebrow, Kyphosis, Long eyelashes, Scoliosis, Attention deficit hyper... OMIM:619005
Juvenile Dermatomyositis
Fever, Calcinosis, Myositis, Alopecia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:93672
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Weight loss ORPHA:83469
Cowden Syndrome 6
Hyperthyroidism, Kyphosis, Thyroiditis, Thyroid adenoma, Scoliosis, Hypothyroidism, Subcutaneous ... OMIM:615109
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short stature, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae ORPHA:2522
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Kyphosis, Low anterior hairline, Attention deficit hyperactivity disorder,... ORPHA:404440
Felty Syndrome
Splenomegaly, Hepatomegaly, Weight loss, Cellulitis ORPHA:47612
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Compulsive behaviors... ORPHA:2388
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... ORPHA:29072
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Cyanosis, Female hypogonadism, Alopecia totalis, Decreased serum leptin, Insulin ... ORPHA:740
Pneumocystosis
Hypoxemia, Fever, Weight loss ORPHA:723
Spinocerebellar Ataxia 28
Lower limb hypertonia, Ragged-red muscle fibers OMIM:610246
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Abnormality of the cervical spine, Sacral dimple, Lumbar hyperlordosis, Increased i... ORPHA:508533
Al Amyloidosis
Hepatomegaly, Increased circulating NT-proBNP concentration, Weight loss, Macroglossia, Abnormali... ORPHA:85443
Trisomy 20P
Inguinal hernia, Camptodactyly of finger, Highly arched eyebrow, Short neck, Thick hair, Kyphosis... ORPHA:261318
Trisomy 13
Abnormal eyelash morphology, Kyphosis, Scoliosis, Hernia, Intrauterine growth retardation ORPHA:3378
Idiopathic Bronchiectasis
Fever, Cachexia ORPHA:60033
Primrose Syndrome
Skeletal muscle atrophy, Synophrys, Flexion contracture, Knee flexion contracture, Glucose intole... OMIM:259050
Acute Promyelocytic Leukemia
Fever, Addictive alcohol use, Anorexia, Weight loss ORPHA:520
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Weight loss, Growth delay, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hy... ORPHA:90362
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Clark-Baraitser syndrome
Kyphosis, Obesity, Scoliosis OMIM:300602
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Distal amyotrophy, Flexion contracture, Scoliosis OMIM:609541
Thymoma
Fever, Myositis, Neoplasm of the thyroid gland, Weight loss ORPHA:99867
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Fever, Anorexia, Splenomegaly, Hepatitis, Hepatosple... ORPHA:781
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Short neck, Hair-pulling, Polyphagia, Self-injurious behavior, ... OMIM:620330
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Short stature, Congenital diaphragmatic hernia, Kyphosis, Scoliosi... OMIM:617602
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Failure to thrive, Cyanosis, Hypoglycemia, Skeletal muscle atrophy, Splenomegaly, R... OMIM:252010
Lateral Meningocele Syndrome
Vertebral fusion, Inguinal hernia, Decreased muscle mass, Short stature, Short neck, Kyphosis, Co... OMIM:130720
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Abnormality of the hairline, Aggressive behavior, Synophrys, Polyphagia,... OMIM:607872
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of the cervical spine, Failure to thrive, Small for gestational age, Ankle flexion co... ORPHA:464311
Cohen Syndrome
Failure to thrive in infancy, Short stature, Thick hair, Abnormal eyelash morphology, Kyphosis, L... ORPHA:193
Cockayne Syndrome
Skeletal muscle atrophy, Dry hair, Congenital contracture, Hepatomegaly, Contractures of the larg... ORPHA:191
19Q13.11 Microdeletion Syndrome
Cachexia, Supernumerary nipple, Fine hair, Growth delay, Sparse or absent eyelashes, Sparse hair,... ORPHA:217346
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Hypertyrosinemia, Brittle hair, Hypoglycemia, Cholangitis, Microve... OMIM:124000
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Short neck, Oral-pharyngeal dysphagia, Kyphosis, Postnatal growth retardation, Syn... OMIM:300966
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Postnatal growth retardation, Kyphosis, Hemivertebrae, Growth delay, Macroglossia... OMIM:301040
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia, Abnormal form of the vertebra... ORPHA:93941
Congenital Tufting Enteropathy
Weight loss, Cholestatic liver disease, Failure to thrive, Steatorrhea ORPHA:92050
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Scapular winging, Lipoatrophy, Kyphosis, Absence of subcutan... OMIM:616914
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Hypoglycemia, Conjugated hype... OMIM:617156
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Hypoplasia of the odontoid proces... OMIM:223800
Pulmonary Non-Tuberculous Mycobacterial Infection
Fever, Weight loss ORPHA:411703
Osteogenesis Imperfecta, Type Iii
Kyphosis, Disproportionate short-limb short stature, Scoliosis, Biconcave vertebral bodies, Neona... OMIM:259420
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Multiple joint contractures, Small for gestational age, Anterior pituitary hypopla... ORPHA:464306
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Thoracic kyphoscoliosis, Inguinal hernia, Widened atrophic scar, Thoracic scoliosis, Decreased mu... ORPHA:1900
Fountain Syndrome
Short stature, Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Scoliosis, Spina bifid... ORPHA:3219
15Q14 Microdeletion Syndrome
Kyphosis, Inguinal hernia, Short stature, Scoliosis ORPHA:261190
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Elevated circulating creatine kinase concentration, Myopathy, Muscular dystrophy, I... OMIM:602541
Smith-Mccort Dysplasia 1
Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... OMIM:607326
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Alopecia, Short stature, Anorexia, Weight loss, Failure to thrive ORPHA:37
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Dysphagia OMIM:211530
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi... OMIM:616239
Multiple Pterygium Syndrome, Escobar Variant
Inguinal hernia, Multiple joint contractures, Short stature, Thoracolumbar scoliosis, Congenital ... OMIM:265000
Paget Disease Of Bone 5, Juvenile-Onset
Short stature, Macular scar, Kyphosis, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia, Failu... OMIM:239000
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Weight loss, Adrena... ORPHA:276621
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Kyphosis, Fine hair, Scoliosis, Sparse hair, Fail... OMIM:617988
Aicardi-Goutieres Syndrome 7
Fever, Hepatomegaly, Splenomegaly, Hypothyroidism, Increased circulating ferritin concentration, ... OMIM:615846
Postencephalitic Parkinsonism
Fever, Kyphosis, Camptocormia, Dysphagia ORPHA:97349
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Cole-Carpenter Syndrome 2
Short stature, Postnatal growth retardation, Kyphosis, Platyspondyly, Dentinogenesis imperfecta OMIM:616294
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Fever, Liver abscess, Weight loss, Hypoalbuminemia ORPHA:67
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Small intestine carcinoid, ... ORPHA:100078
Cowden Syndrome 1
Hyperthyroidism, Kyphosis, Thyroiditis, Thyroid adenoma, Scoliosis, Hypothyroidism, Subcutaneous ... OMIM:158350
Pulmonary Alveolar Microlithiasis
Fever, Hepatomegaly, Cyanosis, Abnormal circulating calcium concentration, Weight loss, Hypoxemia... ORPHA:60025
Distal Triplication 15Q
Large for gestational age, Kyphosis, Flexion contracture, Scoliosis, Hernia, Intrauterine growth ... ORPHA:314588
Poland Syndrome
Diabetes mellitus, Congenital diaphragmatic hernia, Short neck, Kyphosis, Absence of subcutaneous... ORPHA:2911
Lethal Congenital Contracture Syndrome 9
Thoracic kyphoscoliosis, Elbow extension contracture, Centrally nucleated skeletal muscle fibers,... OMIM:616503
Micro Syndrome
Short stature, Kyphosis, Scoliosis, Delayed puberty, Intrauterine growth retardation, Generalized... ORPHA:2510
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly, Short stature ORPHA:93274
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Marden-Walker Syndrome
Skeletal muscle atrophy, Severe short stature, Camptodactyly of finger, Kyphosis, Abnormal form o... ORPHA:2461
Dysostosis, Stanescu Type
Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Macrogloss... ORPHA:1798
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Platyspondyly, Long eyelashes, Inappropriate laughter, Hypoca... OMIM:618476
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Intrauterine gro... ORPHA:958
Liver Disease, Severe Congenital
Dry hair, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypo... OMIM:619991
Hajdu-Cheney Syndrome
Hepatomegaly, Inguinal hernia, Short stature, Short neck, Hypoplastic 5th lumbar vertebrae, Splen... ORPHA:955
Mgat2-Cdg
Abnormality of the endocrine system, Kyphosis, Hirsutism, Long eyelashes, Hypoplastic nipples, Sc... ORPHA:79329
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Skeletal muscle atrophy, Knee flexion contracture OMIM:603387
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Hepatomegaly, Dry hair, Short stature, Sple... OMIM:216400
2Q31.1 Microdeletion Syndrome
Inguinal hernia, Short stature, Camptodactyly of finger, Short neck, Abnormal hair morphology, Ky... ORPHA:251014
Nocardiosis
Fever, Liver abscess, Anorexia, Peritonitis, Thyroiditis, Weight loss, Abnormality of the adrenal... ORPHA:31204
Yao Syndrome
Recurrent fever, Weight loss OMIM:617321
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Broad eyebrow, Highly arched eyebrow, Aggressive behavior, Kyphosis, Low anterior hairline, Wooll... OMIM:619244
Ehlers-Danlos Syndrome, Classic-Like
Increased connective tissue, Hiatus hernia, Proximal amyotrophy, Atrophic scars, Muscle fiber spl... OMIM:606408
Microphthalmia, Lenz Type
Short stature, Camptodactyly of finger, Hyperlordosis, Kyphosis, Self-injurious behavior, Scoliosis ORPHA:568
Perry Syndrome
Weight loss ORPHA:178509
Carney-Stratakis Syndrome
Weight loss, Paraganglioma, Dysphagia ORPHA:97286
Glossopharyngeal Neuralgia
Weight loss, Abnormality of the cervical spine, Oral-pharyngeal dysphagia ORPHA:221098
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss ORPHA:704
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Disproportiona... OMIM:177170
Postinfectious Vasculitis
Fever, Viral hepatitis, Abnormal circulating protein concentration, Anorexia, Elevated circulatin... ORPHA:48435
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia ORPHA:2774
Hereditary Late-Onset Parkinson Disease
Impulsivity, Weight loss, Agitation, Dysphagia, Hypomimic face ORPHA:411602
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Brachyolmia Type 3
Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis OMIM:113500
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
Lateral Meningocele Syndrome
Inguinal hernia, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Low ... ORPHA:2789
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Sacral dimple, Fair hair, Slender build, Decreased response to growth hormon... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Sacral dimple, Fair hair, Slender build, Decreased response to growth hormon... ORPHA:363958
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Short stature, Kyphosis, Abnormal form of the vertebral bodies, Self-inj... ORPHA:192
Harrod Syndrome
Kyphosis, Failure to thrive, Scoliosis, Intrauterine growth retardation ORPHA:2115
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Wild Type Attr Amyloidosis
Hepatomegaly, Weight loss ORPHA:330001
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Hypouricemia, Bicarbonaturia, Weight loss, Growth delay, Decreased circulating carn... ORPHA:3337
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:228302
Infantile Krabbe Disease
Cachexia, Shoulder girdle muscle weakness, Unexplained fevers, Temperature instability, Failure t... ORPHA:206436
Cole-Carpenter Syndrome
Short stature, Abnormal dental enamel morphology, Kyphosis, Abnormal form of the vertebral bodies... ORPHA:2050
African Trypanosomiasis
Hepatomegaly, Alopecia, Aggressive behavior, Abnormality of the endocrine system, Splenomegaly, J... ORPHA:3385
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Splenomegaly, Jaundice, Kyphosis, Myopathy, Cholecystitis, Prolonged neo... OMIM:615512
Plaa-Associated Neurodevelopmental Disorder
Kyphosis, Contractures of the large joints, Impaired oropharyngeal swallow response, Failure to t... ORPHA:521426
Stevens-Johnson Syndrome
Acute hepatic failure, Elevated hepatic transaminase, Fever, Weight loss, Dysphagia, Pancreatitis ORPHA:36426
Spondyloenchondrodysplasia
Short stature, Decreased response to growth hormone stimulation test, Kyphosis, Disproportionate ... ORPHA:1855
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Inguinal hernia, Aggressive behavior, Sparse eyebrow, Kyphosis, Scoliosis, Cho... ORPHA:464738
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Severe short stature, Small for gest... OMIM:133540
Gerstmann-Straussler Disease
Weight loss, Lower limb muscle weakness, Aggressive behavior OMIM:137440
Neuroblastoma, Susceptibility To, 1
Fever, Failure to thrive, Weight loss OMIM:256700
Mend Syndrome
Hyperactivity, Sacral dimple, Short stature, Aggressive behavior, Kyphosis, Elevated 8-dehydrocho... ORPHA:401973
Monosomy 9Q22.3
Hyperactivity, Rhabdomyosarcoma, Short neck, Large for gestational age, Kyphosis, Abnormality of ... ORPHA:77301
Wolf-Hirschhorn Syndrome
Sacral dimple, Congenital diaphragmatic hernia, Highly arched eyebrow, Kyphosis, Abnormality of t... ORPHA:280
Brucellosis
Fever, Hepatomegaly, Liver abscess, Small for gestational age, Anorexia, Elevated circulating C-r... ORPHA:1304
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Inguinal hernia, Sacral dimple, Small for gestational age, Decreased response to growth hormone s... ORPHA:268261
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Decreased muscle mass, Small for gestational a... OMIM:194190
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Chronic Beryllium Disease
Weight loss ORPHA:133
Seckel Syndrome
Sparse scalp hair, Short stature, Abnormal dental enamel morphology, Cachexia, Scoliosis, Intraut... ORPHA:808
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Noonan Syndrome 14
Curly hair, Scapular winging, Short stature, Short neck, Sparse eyebrow, Kyphosis, Low posterior ... OMIM:619745
Marshall-Smith Syndrome
Omphalocele, Thoracic scoliosis, Brittle hair, Short stature, Kyphoscoliosis, Highly arched eyebr... OMIM:602535
Cowden Syndrome
Short stature, Follicular thyroid carcinoma, Abnormality of the thyroid gland, Kyphosis, Macroglo... ORPHA:201
Fryns-Smeets-Thiry Syndrome
Cachexia, Short stature, Scoliosis ORPHA:2058
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Rhizomelia, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyl... OMIM:618019
Classic Homocystinuria
Elevated hepatic transaminase, Hepatomegaly, Sparse scalp hair, Anorexia, Kyphosis, Scoliosis, He... ORPHA:394
Loeffler Endocarditis
Left ventricular hypertrophy, Weight loss ORPHA:75566
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Short stature, Abnormal dental enamel morphology, Congenital diaphragma... ORPHA:818
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Flexion contracture of finger, Scoliosis, Camptodactyly ORPHA:88628
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Short stature, Kyphosis, Synophrys, Flexion contracture, Abnormal form of the ve... ORPHA:3042
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Camptodactyly of finger, Highly arched eyebrow, Supernumerary nipple, Kyphosis, Scoliosis OMIM:619951
Early-Onset Autosomal Dominant Alzheimer Disease
Agitation, Deposits immunoreactive to beta-amyloid protein, Disinhibition ORPHA:1020
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Abnormal hair pattern, Kyphosis, Scoliosis, Dysphagia ORPHA:261250
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Lower limb muscle weakness, Scoliosis, Skeletal muscle atrophy ORPHA:88644
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... OMIM:613154
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Growth delay, Hepatic fibr... ORPHA:2072
Dermatomyositis
Fever, Abnormal hair quantity, Weight loss, Inflammatory myopathy, Cellulitis, Acrocyanosis, Chon... ORPHA:221
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Weight loss, Dysphagia, Polydipsia, Pancrea... ORPHA:537
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Impulsivity, Aggressive behavior, Kyphoscoliosis, Kyphosis, Pineal cyst, Left ventricular noncomp... OMIM:300967
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Hepatomegaly, Fever, Weight loss ORPHA:98849
Neuromuscular Oculoauditory Syndrome
Elevated circulating creatine kinase concentration, Knee flexion contracture, Calf muscle hypertr... OMIM:618733
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair, Kyphosis, Inguinal hernia, Scoliosis OMIM:616449
Fanconi Anemia
Short stature, Weight loss, Growth delay, Abnormality of the liver, Hypogonadism, Scoliosis, Umbi... ORPHA:84
Nijmegen Breakage Syndrome
Abnormal hair quantity, Skeletal muscle atrophy, Short stature, Cachexia, Short neck, Rhabdomyosa... ORPHA:647
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Cap Polyposis
Weight loss ORPHA:160148
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Lethal short-limbed short stature ORPHA:1860
Trisomy 18
Omphalocele, Short stature, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, G... ORPHA:3380
Spondyloperipheral Dysplasia
Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular... OMIM:271700
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Disproportionate short stature,... OMIM:616482
Simple Cryoglobulinemia
Viral hepatitis, Unexplained fevers, Weight loss ORPHA:91139
Rat-Bite Fever
Back pain, Fever, Tendonitis, Weight loss, Pancreatitis ORPHA:31205
Systemic Capillary Leak Syndrome
Pancreatitis, Weight loss ORPHA:188
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Atrophic scars, Scoliosis, Hyperlordosis OMIM:617821
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy, Cachexia ORPHA:1876
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Broad eyebrow, Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age,... ORPHA:457359
Polycythemia Vera
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss ORPHA:729
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Short stature, Kyphosis, Bilateral camptodactyly, Synophrys, Growth delay, Scoliosis OMIM:619557
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Hyperpro... ORPHA:29073
Cono-Spondylar Dysplasia
Short nail, Short neck, Kyphosis, Scoliosis, Failure to thrive ORPHA:420794
Malt Lymphoma
Abnormality of the thyroid gland, Fever, Weight loss ORPHA:52417
Liposarcoma
Weight loss ORPHA:69078
Rett Syndrome, Congenital Variant
Kyphosis, Tongue thrusting, Scoliosis, Bruxism, Abnormal repetitive mannerisms OMIM:613454
Neurofibromatosis Type 1
Abnormal hair quantity, Short stature, Abnormality of the endocrine system, Precocious puberty, K... ORPHA:636
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Abnormal dental enamel morphology, Anorexia, Weight loss, Long eyelashes ORPHA:79430
Sarcoidosis, Susceptibility To, 1
Fever, Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Hypoxemia OMIM:181000
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Anorexia, Elevated circulating C-reactive ... ORPHA:50918
Granulomatosis With Polyangiitis
Fever, Elevated circulating C-reactive protein concentration, Weight loss, Abnormality of the hyp... ORPHA:900
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Lower limb amyotrophy, L... OMIM:300257
Marfan Syndrome
Skeletal muscle atrophy, Inguinal hernia, Cachexia, Kyphosis, Scoliosis, Attention deficit hypera... ORPHA:558
Osteogenesis Imperfecta, Type Iv
Short stature, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Dentinogenesis imperfecta OMIM:166220
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Osteogenesis Imperfecta, Type Viii
Inguinal hernia, Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, V... OMIM:610915
Pmm2-Cdg
Elevated hepatic transaminase, Fever, Multiple joint contractures, Hypogonadotropic hypogonadism,... ORPHA:79318
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Sacral dimple, Short stature, Short neck, Kyphosis, Long eyelashes, Scoliosis, Campt... OMIM:616894
Riddle Syndrome
Elevated circulating alpha-fetoprotein concentration, Short stature, Recurrent fever, Weight loss ORPHA:420741
Zttk Syndrome
Absent gallbladder, Curly hair, Short stature, Sparse eyebrow, Kyphosis, Flexion contracture, Hem... OMIM:617140
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Absent eyebrow, Inguinal hernia, Abnormality of temperature regulation, Severe short... ORPHA:2273
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Dry hair, Mild postnatal gr... ORPHA:90324
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Igg4-Related Dacryoadenitis And Sialadenitis
Fever, Myositis, Retroperitoneal fibrosis, Thyroiditis, Weight loss, Abnormality of the extraocul... ORPHA:79078
Pancreatic Triacylglycerol Lipase Deficiency
Growth delay, Weight loss, Steatorrhea, Exocrine pancreatic insufficiency ORPHA:309031
Osteogenesis Imperfecta
Inguinal hernia, Small for gestational age, Abnormal dental enamel morphology, Cervical kyphosis,... ORPHA:666
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Weight loss, Failure to thrive, Dysphagia ORPHA:1018
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... ORPHA:314769
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Short stature, Kyphoscoliosis, Sparse eyebrow, Kyphosis, Synophrys, Campto... ORPHA:3063
Williams Syndrome
Elevated circulating creatine kinase concentration, Abnormal form of the vertebral bodies, Verteb... ORPHA:904
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... ORPHA:963
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Short stature, Camptodactyly of finger, Kyphoscoliosis, Short neck, Rhizome... OMIM:143095
Cardiofacioneurodevelopmental Syndrome
Asplenia, Kyphosis, Abdominal situs inversus, Camptodactyly OMIM:619123
Shprintzen Omphalocele Syndrome
Omphalocele, Lumbar hyperlordosis, Short stature, Kyphosis, Scoliosis, Decreased body weight OMIM:182210
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Behçet Disease
Fever, Myositis, Anorexia, Splenomegaly, Weight loss, Pancreatitis ORPHA:117
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Dysphagia, Knee flexion contracture OMIM:619708
Norrie Disease
Diabetes mellitus, Cachexia, Self-injurious behavior, Attention deficit hyperactivity disorder, D... ORPHA:649
Reactive Arthritis
Fever, Weight loss, Dystrophic fingernails, Enthesitis ORPHA:29207
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Supernumerary nipple, Short neck, Kyphosis, Elbow flexion contracture, Knee flex... OMIM:619194
Autosomal Recessive Robinow Syndrome
Inguinal hernia, Sacral dimple, Alopecia, Camptodactyly of finger, Short neck, Kyphosis, Vertebra... ORPHA:1507
Immunodeficiency 82 With Systemic Inflammation
Anorexia, Elevated circulating C-reactive protein concentration, Splenomegaly, Hepatitis, Weight ... OMIM:619381
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Stickler Syndrome
Skeletal muscle atrophy, Short stature, Abnormal dental enamel morphology, Cachexia, Kyphosis, Sp... ORPHA:828
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Severe short stature, Femoral hernia, Abnormal dental enamel morphology, Facial ... ORPHA:2658
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short stature, Short neck, Kyphosis, Scoliosis ORPHA:140
Coffin-Siris Syndrome 1
Sparse scalp hair, Inguinal hernia, Sacral dimple, Short stature, Dry hair, Congenital diaphragma... OMIM:135900
Proteus Syndrome
Thymus hyperplasia, Decreased muscle mass, Abnormal dental enamel morphology, Cachexia, Neoplasm ... ORPHA:744
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Abnormal mesente... ORPHA:449395
Pyomyositis
Fever, Myositis, Weight loss ORPHA:764
Castleman Disease
Jaundice, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:160
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Pancreatoblastoma
Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Weight loss ORPHA:677
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Hypogonadotropic hypogonadism, Scoliosis, Delayed puberty OMIM:619718
Coffin-Lowry Syndrome
Inguinal hernia, Short stature, Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Coarse hair, Sc... OMIM:303600
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia, Steatorrhea ORPHA:3217
Mend Syndrome
Hyperactivity, Sacral dimple, Short stature, Kyphosis, Failure to thrive OMIM:300960
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Inguinal hernia, Trichiasis, Sparse eyebrow, Kyphosis, Thin eyebrow OMIM:609944
Aspartylglucosaminuria
Hepatomegaly, Short stature, Kyphosis, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis, Her... OMIM:208400
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hi... OMIM:304150
Malignant Atrophic Papulosis
Peritonitis, Weight loss ORPHA:679
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers ORPHA:70595
Granulomatosis With Polyangiitis
Fever, Weight loss OMIM:608710
Juvenile Polyposis Of Infancy
Cachexia, Short stature, Hypoalbuminemia, Subcutaneous lipoma ORPHA:79076
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Alopecia, Anorexia, Flexion contracture, Weight loss, N... ORPHA:99921
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Growth delay, Prominent coccy... OMIM:249420
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Fever, Elevated circulating C-reactive protein concentration, Recurrent fever, Weight loss OMIM:301074
Sotos Syndrome
Hip contracture, Inguinal hernia, Sacrococcygeal teratoma, Hypercalcemia, Ankle flexion contractu... ORPHA:821
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis, Enthesitis OMIM:106300
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Temperature instability, Scoliosis, Dysphagia OMIM:619482
Tubulointerstitial Nephritis And Uveitis Syndrome
Fever, Elevated circulating C-reactive protein concentration, Anorexia, Elevated circulating crea... ORPHA:91500
Familial Osteodysplasia, Anderson Type
Kyphosis, Abnormal form of the vertebral bodies, Hyperuricemia, Scoliosis, Thick eyebrow ORPHA:2769
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Lymphedema-Distichiasis Syndrome
Yellow nails, Kyphosis, Distichiasis, Cellulitis OMIM:153400
Wrinkly Skin Syndrome
Inguinal hernia, Scapular winging, Short stature, Short nail, Hypoplasia of the musculature, Kyph... OMIM:278250
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Thickened Achilles tendon, Intervertebral disc degener... OMIM:203500
Cleidocranial Dysplasia 1
Short stature, Kyphosis, Moderately short stature, Spondylolysis, Scoliosis, Enamel hypoplasia, S... OMIM:119600
Osteoporosis-Pseudoglioma Syndrome
Short stature, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Ve... OMIM:259770
17Q11 Microdeletion Syndrome
Short stature, Rhabdomyosarcoma, Precocious puberty, Kyphosis, Glomus jugular tumor, Elevated cir... ORPHA:97685
Cdags Syndrome
Sparse eyebrow, Kyphosis, Sparse eyelashes, Sparse scalp hair OMIM:603116
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Large for gestational age, Sparse eyebrow, Kyphosis, Hyperlordosis, Scoliosis OMIM:617011
Familial Thrombocytosis
Splenomegaly, Weight loss ORPHA:71493
Branchiooculofacial Syndrome
Facial palsy, Supernumerary nipple, Hyperlordosis, Short neck, Kyphosis, Postnatal growth retarda... OMIM:113620
Ramon Syndrome
Short stature, Kyphosis, Scoliosis, Decreased body weight, Hypertrichosis OMIM:266270
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Cachexia ORPHA:220295
Viss Syndrome
Sparse scalp hair, Inguinal hernia, Alopecia, Short stature, Hypothyroidism, Kyphosis, Hirsutism,... OMIM:619472
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyelashes, Kyphosis, Absent eyebrow, Abnormal dental enamel morphology ORPHA:85199
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Goodpasture Syndrome
Fever, Cyanosis, Increased blood urea nitrogen, Weight loss OMIM:233450
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis, Lower limb hypertonia, Foot dorsiflexor weakness ORPHA:171629
Cerebrocostomandibular Syndrome
Kyphosis, Short stature, Intrauterine growth retardation ORPHA:1393
Tropical Endomyocardial Fibrosis
Fever, Hepatomegaly, Cachexia, Splenomegaly, Myocardial calcification, Hypoalbuminemia ORPHA:75565
Singleton-Merten Syndrome 1
Short stature, Scoliosis, Decreased body weight, Muscle fiber atrophy, High anterior hairline, Te... OMIM:182250
Yunis-Varon Syndrome
Sparse scalp hair, Absent nipple, Small for gestational age, Anterior concavity of thoracic verte... OMIM:216340
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportionate short-trunk ... OMIM:300106

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 Pnpla7

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 Pnpla7.

No publications found that use IMPC mice or data for Pnpla7.

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
Pnpla7tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pnpla7tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pnpla7tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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