Gene: Myh1 MGI:1339711

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Gene Summary

Name:
myosin, heavy polypeptide 1, skeletal muscle, adult
Synonyms:
MyHC-IId/x,  Myhs-f,  Myhs-f2,  Myhsf2,  A530084A17Rik,  MYHC-IIX,  myosin heavy chain 2X,  IId,  IId/x

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased urine creatinine level Myh1tm1b(KOMP)Wtsi HOM Early adult 3.95×10-31
increased urine microalbumin level Myh1tm1b(KOMP)Wtsi HOM Early adult 4.51×10-07
decreased lean body mass Myh1tm1b(KOMP)Wtsi HOM   Early adult 7.96×10-05
increased hematocrit Myh1tm1b(KOMP)Wtsi HOM   Early adult 6.35×10-07
decreased exploration in new environment Myh1tm1b(KOMP)Wtsi HOM Early adult 1.63×10-06
abnormal startle reflex Myh1tm1b(KOMP)Wtsi HOM Early adult 1.09×10-14
abnormal sleep behavior Myh1tm1b(KOMP)Wtsi HOM Early adult 3.73×10-24
decreased bone mineral content Myh1tm1b(KOMP)Wtsi HOM Early adult 2.01×10-11
decreased urine glucose level Myh1tm1b(KOMP)Wtsi HOM Early adult 1.46×10-10
increased total body fat amount Myh1tm1b(KOMP)Wtsi HOM Early adult 2.39×10-05
decreased urine magnesium level Myh1tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased grip strength Myh1tm1b(KOMP)Wtsi HOM Early adult 8.21×10-20
decreased bone mineral density Myh1tm1b(KOMP)Wtsi HOM Early adult 2.45×10-36
hypoactivity Myh1tm1b(KOMP)Wtsi HOM Early adult 8.02×10-05
increased hemoglobin content Myh1tm1b(KOMP)Wtsi HOM Early adult 3.12×10-05
decreased startle reflex Myh1tm1b(KOMP)Wtsi HOM Early adult 7.14×10-05
decreased leukocyte cell number Myh1tm1b(KOMP)Wtsi HOM Early adult 4.71×10-07
increased heart weight Myh1tm1b(KOMP)Wtsi HOM Early adult 1.02×10-05
abnormal bone structure Myh1tm1b(KOMP)Wtsi HOM Early adult 1.45×10-11
decreased prepulse inhibition Myh1tm1b(KOMP)Wtsi HOM Early adult 8.74×10-11
abnormal auditory brainstem response Myh1tm1b(KOMP)Wtsi HOM   Early adult 2.78×10-08
decreased thigmotaxis Myh1tm1b(KOMP)Wtsi HOM Early adult 1.90×10-07
increased erythrocyte cell number Myh1tm1b(KOMP)Wtsi HOM   Early adult 4.34×10-08

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Esophagus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote Ambiguous
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

Sleep Wake

Wake state (bmp file)

10 Images

Adult LacZ

LacZ Images Section

8 Images

Eye Morphology

Images Slit Lamp

1 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

5 Images

Electroretinography 2

Rod and cone PDF

3 Images

Human diseases caused by Myh1 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 Myh1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis, Respiratory insufficiency due to muscle weakness, Proximal muscle weakness, ... OMIM:617087
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Proximal l... OMIM:600175
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Dysphagia, Kyphosis, Flexion contracture, Generalized amyotrophy, Spinal rigidity, Myo... OMIM:618323
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Respiratory insufficiency due to muscle ... OMIM:300718
Inclusion Body Myositis
Dysphagia, Proximal muscle weakness, Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis, Lower limb muscle weakness, Skeletal muscle atrophy OMIM:611225
Facial Onset Sensory And Motor Neuronopathy
Muscle weakness, Dysphagia, Skeletal muscle atrophy ORPHA:85162
Myopathy, Spheroid Body
Muscle weakness, Proximal amyotrophy, Dysphagia, Proximal muscle weakness, Distal muscle weakness... OMIM:182920
Spinal Muscular Atrophy, Infantile, James Type
Muscle weakness, Scoliosis, Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal ... OMIM:619042
Bethlem Myopathy 2
Muscle weakness, Scapular winging, Kyphosis, Flexion contracture, Myopathy OMIM:616471
Distal Renal Tubular Acidosis
Hypocitraturia, Hemolytic anemia, Low-molecular-weight proteinuria, Hyperphosphaturia, Rickets, R... ORPHA:18
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscle weakness, Scapular winging, ... ORPHA:602
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Hyperglycemia, Abnormal heart morphology, Contractures of the... ORPHA:99885
Myopathy, Centronuclear, 2
Scoliosis, EMG: myopathic abnormalities, Hyperlordosis, Scapular winging, Kyphosis, Flexion contr... OMIM:255200
Parastremmatic Dwarfism
Scoliosis, Kyphosis, Flexion contracture, Short neck OMIM:168400
Nemaline Myopathy 4
Neck muscle weakness, Scapular winging, Flexion contracture, Type 1 muscle fiber predominance, Ne... OMIM:609285
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Alpha-B Crystallin-Related Late-Onset Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Facial diplegia, Progressive distal muscle we... ORPHA:399058
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Hypocalciuria, Chondrocalcinosis, Osteomalacia, Reduced ratio of renal calcium c... ORPHA:405
Myopathy, Distal, 4
Muscle weakness, Distal upper limb amyotrophy, Proximal muscle weakness, Distal lower limb amyotr... OMIM:614065
Wilson Disease
Osteoporosis, Joint hypermobility, Tremor, Dystonia, Hemolytic anemia, Hyperphosphaturia, Chondro... OMIM:277900
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Dysphagia, Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Knee flexion contractu... ORPHA:496689
Galactosemia I
Hemolytic anemia, Albuminuria, Aminoaciduria, Hepatomegaly, Increased level of galactitol in urin... OMIM:230400
Autosomal Dominant Hypocalcemia
Depression, Emotional lability, Writer's cramp, Hypercalciuria, Reduced bone mineral density, Hyp... ORPHA:428
Myopathy, Scapulohumeroperoneal
Scoliosis, Hyperlordosis, Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fiber... OMIM:616852
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Kyphosis, Proximal muscle weakness in lower limbs, P... OMIM:618138
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Centrally nucleated skeletal muscle fibe... OMIM:618484
Vacuolar Neuromyopathy
Scapular winging, Dysphagia, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shou... OMIM:601846
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscle weakness, Scoliosis, Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fat... OMIM:613204
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Sensorineural hearing impairment, Hydronephrosis, Type I diabetes mellitus,... OMIM:619269
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscle weakness, Muscular dystrophy, Flexion contracture, Increased endomysial connective tissue,... OMIM:617072
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle weakness, Scoliosis, Internally nucleated skeletal muscle fibers, Proximal muscle weakness... OMIM:618654
Congenital Muscular Dystrophy, Ullrich Type
Muscle weakness, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Scoliosis, Short... ORPHA:75840
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Macroglossia, Scoliosis, Hyperlordo... OMIM:606612
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Progressive neurologic deterioration, Tremor, Abnormal mitral valve morphology, Gait disturbance,... ORPHA:1192
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Abnormal bone structure ORPHA:46532
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Decreased skull ossification, Abnormal cardiac septum morphology, Abnor... ORPHA:3319
East Syndrome
Inability to walk, Difficulty walking, Enuresis, Renal salt wasting, Action tremor, Ataxia, Renal... ORPHA:199343
Central Core Disease Of Muscle
Muscle weakness, Scoliosis, Centrally nucleated skeletal muscle fibers, Central core regions in m... OMIM:117000
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Overweight, Dysphagia, Centrally nu... OMIM:619178
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Scapuloperoneal Spinal Muscular Atrophy
Scoliosis, Hyperlordosis, Scapular winging, Peroneal muscle atrophy, Progressive distal muscle we... OMIM:181405
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Hypsarrhythmia, Moderate albuminuria, Pathologic fracture, Diabetes mellitus, Osteopenia, Optic a... OMIM:614231
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Fatigable weakness of swallowing muscles, Hyperphosphaturia, Bilateral sensorineural hearing impa... ORPHA:436271
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Proximal muscle weakness, Distal muscle weakness, Distal amyotrophy, Kyphoscoliosis, Foot dorsifl... OMIM:605588
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Self-biting, Renal magnesium wasting, Hyperactivity OMIM:618314
X-Linked Charcot-Marie-Tooth Disease Type 4
Distal muscle weakness, Scoliosis, Kyphosis, Skeletal muscle atrophy ORPHA:101078
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscle weakness, Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion c... OMIM:607855
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Dysphagia, Skeletal muscle fibrosis, Generalized muscle weaknes... ORPHA:34516
Hyperinsulinism Due To Hnf4A Deficiency
Progressive neurologic deterioration, Tremor, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsul... ORPHA:263455
Dent Disease 1
Renal phosphate wasting, Delayed epiphyseal ossification, Low-molecular-weight proteinuria, Hyper... OMIM:300009
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Focal segmental glomerulosclerosis, Nephropathy, Action tremor, Glo... OMIM:254900
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis, Spinal muscular atrophy, Proximal amyotrophy OMIM:271200
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Rickets, Proximal tubulopathy, Glycosuria, Hypercalciuria, Renal insuf... OMIM:613388
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Recurrent urinary tract infections, Polyuria, R... OMIM:248250
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Rickets, Aminoaciduria, Hypoglycemia, Glycosuria, Hepatomegaly, Diabetes melli... OMIM:616026
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Aminoaciduria, Ataxia, Glycosuria, Hepatomegaly, Sensorineural hearing impairm... OMIM:220110
Tempi Syndrome
Polycythemia, Increased hematocrit, Abnormality of the kidney ORPHA:284227
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Arthrogryposis multiplex congenita, Small for gestational age, Failure to thrive, Kyphoscoliosis OMIM:212540
Nephrotic Syndrome, Type 7
Hemolytic anemia, Acute kidney injury, Thrombocytopenia, Hemolytic-uremic syndrome, Glomeruloneph... OMIM:615008
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hemolytic anemia, Hematuria, Proteinuria OMIM:614034
Myopathy, Myofibrillar, 7
Muscle weakness, Scoliosis, Type 2 muscle fiber predominance, Dysphagia, Thoracic kyphosis, Flexi... OMIM:617114
Bethlem Myopathy
Reduced muscle collagen VI, EMG: myopathic abnormalities, Neck muscle weakness, Scoliosis, Muscul... ORPHA:610
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Congenital muscular torticollis, Generalized muscle weakness, Elbow flexion contractur... ORPHA:536516
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Nephropathy, Weight loss, Hepatomegaly, Abnormal B cell count, Bence Jo... ORPHA:100024
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Rickets, Aminoaciduria, Glycosuria, Proteinuria OMIM:615605
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Thrombocytopenia, Proteinuria ORPHA:2134
Glut1 Deficiency Syndrome 2
Tremor, Dystonia, Reticulocytosis, Ataxia, Irritability, EEG abnormality, Cognitive impairment OMIM:612126
Hyperprolinemia, Type I
Aggressive behavior, Hydroxyprolinuria, Ataxia, Hyperglycinuria, Prolinuria, EEG abnormality, Hyp... OMIM:239500
Dent Disease
Hematuria, Hypercalciuria, Chronic kidney disease, Thin bony cortex, Delayed epiphyseal ossificat... ORPHA:1652
Congenital Muscular Dystrophy Without Intellectual Disability
EMG: myopathic abnormalities, Proximal amyotrophy, Congenital muscular dystrophy, Limb-girdle mus... ORPHA:370980
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Distal lower limb amyotrophy, Distal upper limb amyotrophy, Kyphosis ORPHA:101075
Al Amyloidosis
Monoclonal light chain cardiac amyloidosis, Albuminuria, Abnormal heart morphology, Postural hypo... ORPHA:85443
Acquired Partial Lipodystrophy
Lymphocytosis, Insulin resistance, Lipoatrophy, Glomerulopathy, Microscopic hematuria, Hearing im... ORPHA:79087
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Renal calcium wasting, Amelogenesis imperfecta, Recurrent urinary tract infections, Hypercalciuri... OMIM:248190
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Spastic Paraplegia-Nephritis-Deafness Syndrome
Gait disturbance, Sensorineural hearing impairment, Nephropathy, Proteinuria ORPHA:2820
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Myopathy, Failure to thrive, Kyphosis OMIM:618234
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion co... ORPHA:178148
Fanconi Renotubular Syndrome 1
Lacticaciduria, Rickets, Aminoaciduria, Glycosuria, Osteomalacia, Renal insufficiency, Renal tubu... OMIM:134600
Fibrosis Of Extraocular Muscles, Congenital, 3C
Restrictive partial external ophthalmoplegia, Congenital fibrosis of extraocular muscles, Kyphosis OMIM:609384
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Slender build, Scoliosis, Congenital muscular dystrophy, Kyphosis, Fl... OMIM:254090
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Brown-Vialetto-Van Laere Syndrome 2
Neck muscle weakness, Scoliosis, Dysphagia, Generalized amyotrophy, Facial palsy, Kyphoscoliosis,... OMIM:614707
Neuraminidase Deficiency
Bone-marrow foam cells, Epiphyseal stippling, Vacuolated lymphocytes, Hepatomegaly, Inguinal hern... OMIM:256550
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Hyperphosphaturia, Generalized aminoaciduria, Rickets, Impaired glucose tol... ORPHA:2088
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Respiratory insuffi... OMIM:618291
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscle weakness, Muscular dystrophy, Centrally nucleated skeletal... OMIM:613530
Myasthenic Syndrome, Congenital, 20, Presynaptic
Neck muscle weakness, Muscle weakness, Scoliosis, Arthrogryposis multiplex congenita, Dysphagia, ... OMIM:617143
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Glomerulopathy, Sensorineural hearing impairment, Anemia, Renal insufficiency, Protein... ORPHA:2668
Poems Syndrome
Sclerosis of hand bone, Thrombocytosis, Pericardial effusion, Lipodystrophy, Visceromegaly, Polyc... ORPHA:2905
Hypermanganesemia With Dystonia 1
Tremor, Dystonia, Polycythemia, Bradykinesia, Hepatomegaly, Steppage gait OMIM:613280
Typical Nemaline Myopathy
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Facial diplegia, Fatigable weakness... ORPHA:171436
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria, Irritability, Failure to ... ORPHA:2089
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Fetal Akinesia Deformation Sequence 4
Arthrogryposis multiplex congenita, Camptodactyly, Flexion contracture, Kyphosis, Skeletal muscle... OMIM:618393
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dysphagia, Kyphosis, Respiratory insufficiency due to muscle weakness, Progressive external ophth... ORPHA:352447
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal muscle weakness, Kyphoscoliosis, Distal amyotrophy, Proximal muscle weakness OMIM:607831
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscle weakness, Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Dysuria, Hematuria, Acute kidney injury, Depression, Abnormal penis morphology, Renal tubular epi... ORPHA:95455
Fumarase Deficiency
Polycythemia, Aminoaciduria, Failure to thrive, Reduced subcutaneous adipose tissue, Optic atrophy OMIM:606812
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Polycythemia, Methemoglobinemia OMIM:250800
X-Linked Charcot-Marie-Tooth Disease Type 5
Muscle weakness, Skeletal muscle hypertrophy, Kyphosis, Scoliosis ORPHA:99014
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia, Ataxia, Intention tremor, Increased level of L-pyroglutamic acid i... OMIM:266130
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Hyperlord... ORPHA:98855
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Short neck, Elbow flexio... ORPHA:98863
Amyotrophic Lateral Sclerosis 18
Muscle weakness, Dysphagia, Skeletal muscle atrophy OMIM:614808
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Nephropathy, Carpal osteolysis, Osteolysis involvin... OMIM:166300
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Hypertrophic cardiomyopathy, Hypoglycemia, Hepatomegaly, Irritability, Failure to t... ORPHA:369
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Nephrocalcinosis, Renal magnesium wasting ORPHA:564178
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Athetosis, Interictal epileptiform activity, Glycosuria, Small for gestational age... OMIM:618857
Ravine Syndrome
Decreased body weight, Failure to thrive, Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Increased CD4:CD8 ratio, Impaired lymphocyte transformation wit... OMIM:617006
Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elbow flexion contractur... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elbow flexion contractur... ORPHA:98853
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Loss of subcutaneous adipose tissue from upper limbs, Hematuria, Lipodystrophy, Membranoprolifera... OMIM:613913
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Aminoaciduria, Ataxia, Hepatosplenomegaly ORPHA:33574
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia, Dementia, Proteinuria OMIM:261100
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... ORPHA:40
Galactosemia Iii
Aminoaciduria, Hepatomegaly, Sensorineural hearing impairment, Galactosuria, Failure to thrive, S... OMIM:230350
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Hematuria, Membranoproliferative glomerulon... OMIM:608709
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Kyphosis, Anterior beaking of lumbar vertebrae, Skeletal muscle atrophy OMIM:230650
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Macroglossia, Congenital muscular dystrophy, Kyphosis, Pelvic girdle mu... OMIM:607155
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoaciduria, Glycosuria, Stage 5 chronic... OMIM:618913
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Kyphosis OMIM:618453
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Pr... ORPHA:1145
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Reticulocytosis, Thrombocytope... ORPHA:54057
Richieri Costa-Da Silva Syndrome
Decreased muscle mass, Beaking of vertebral bodies, Dysphagia, Skeletal muscle hypertrophy, Decre... ORPHA:3101
Beta-Thalassemia
Microcytic anemia, Hepatomegaly, Reduced bone mineral density, Thrombocytopenia, Irritability, An... ORPHA:848
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Generalized bone demineralization, Mucopolysacchariduria, Cor pulmonale, Abnormal T cell morpholo... OMIM:215250
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Respiratory insufficiency d... ORPHA:597
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Progressive neurologic deterioration, Aggressive behavior, Dense c... OMIM:252920
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Hemolytic anemia, Rickets, Reticulocytosis, Distal renal tubular acidosis, Isothenuria,... OMIM:611590
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Brachyolmia Type 1, Hobaek Type
Scoliosis, Kyphosis, Back pain, Intervertebral space narrowing, Squared-off platyspondyly, Short ... OMIM:271530
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Flexion contracture, ... ORPHA:77297
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Reticulocytosis, Ataxia, Emotional lability, Renal insufficiency, Exercise-indu... OMIM:300653
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Congenital foot contractures, Kyphosis, Distal amyotrophy ORPHA:3454
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Glycosuria, Osteomalacia, Failure to thrive, Reduce... OMIM:227810
Hypomagnesemia 2, Renal
Renal insufficiency, Chondrocalcinosis, Renal magnesium wasting, Hypocalciuria OMIM:154020
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Dystonia, Attention deficit hyperactivity disorder, Dementia, Prelingu... ORPHA:52368
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Autosomal Recessive Spastic Paraplegia Type 44
Urinary bladder sphincter dysfunction, Difficulty walking, Abnormal motor evoked potentials, Atax... ORPHA:320401
Sandhoff Disease
Muscle weakness, Kyphosis, Failure to thrive ORPHA:796
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Glycosuria, Tubuloint... OMIM:614817
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Mitral valve prolapse, Elevated circulat... ORPHA:730
Peroxisome Biogenesis Disorder 1A (Zellweger)
Epiphyseal stippling, Albuminuria, Ventricular septal defect, Aminoaciduria, Hepatomegaly, Poster... OMIM:214100
Ataxia-Oculomotor Apraxia Type 4
Muscular dystrophy, Progressive distal muscular atrophy, Distal lower limb muscle weakness, Kypho... ORPHA:459033
Tyrosinemia Type 1
Generalized aminoaciduria, Splenomegaly, Rickets of the lower limbs, Hepatomegaly ORPHA:882
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Small for gestational age, Decreased body weight OMIM:618392
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acid... ORPHA:3337
Mitochondrial Dna Depletion Syndrome 11
Proximal amyotrophy, Kyphosis, Progressive external ophthalmoplegia, Generalized amyotrophy, Faci... OMIM:615084
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Myopathy, Generalized limb muscle atrophy, Kyphosis ORPHA:2598
Marinesco-Sjogren Syndrome
Scoliosis, Kyphosis, Flexion contracture, Centrally nucleated skeletal muscle fibers, Progressive... OMIM:248800
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Idiopathic Hypercalciuria
Renal calcium wasting, Osteoporosis, Calcium oxalate nephrolithiasis, Hypercalciuria, Osteopenia ORPHA:2197
Fechtner syndrome
Hematuria, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets, Stage 5 chronic kidney ... OMIM:153640
Myofibrillar Myopathy 10
Muscle weakness, EMG: myopathic abnormalities, Flexion contracture of finger, Kyphosis, Left vent... OMIM:619040
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Arthrogryposis multiplex congenita, Short neck, Kyphosis, Respiratory insufficiency du... OMIM:611890
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypermagnesiuria, Obesity ORPHA:34527
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis, Polycythemia OMIM:260900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Preeclampsia
Acute kidney injury, Elevated circulating creatinine concentration, Thrombocytopenia, Chronic kid... ORPHA:275555
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Thiamine-responsive mega... OMIM:249270
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Cednik Syndrome
Macrotia, Ataxia, Sensorineural hearing impairment, Nephrotic syndrome, Abnormality of peripheral... ORPHA:66631
Gitelman Syndrome
Hypocalciuria, Chondrocalcinosis, Nocturia, Renal potassium wasting, Polyuria, Enuresis, Ataxia, ... OMIM:263800
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Mody
Abnormal oral glucose tolerance, Overweight, Hyperinsulinemic hypoglycemia, Glucose intolerance, ... ORPHA:552
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Sickle Cell Anemia
Osteoporosis, Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chron... ORPHA:232
Brown-Vialetto-Van Laere Syndrome 1
Neck muscle weakness, Scoliosis, External ophthalmoplegia, Dysphagia, Kyphosis, Proximal muscle w... OMIM:211530
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Normochromic anemia, Hemolytic anemia, Proteinuria OMIM:245900
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Weight loss, Leukopenia, Type II diabetes mellitus, Osteoarthritis... ORPHA:2298
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Recurrent fractures, Aminoaciduria, Splenomegaly ORPHA:417
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Maternally-Inherited Diabetes And Deafness
Ataxia, Glomerulopathy, Sensorineural hearing impairment, Type II diabetes mellitus, Renal insuff... ORPHA:225
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age ORPHA:85288
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Progressive neurologic deterioration, Gait ataxia, Proximal tubulopathy, Aminoaciduria, Weight lo... OMIM:612075
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Synovitis, Abnormal glomerula... ORPHA:567544
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy, Kyphosis ORPHA:1875
Free Sialic Acid Storage Disease
Gait disturbance, Ataxia, Failure to thrive in infancy, Hepatomegaly, Reduced bone mineral densit... ORPHA:834
Focal Segmental Glomerulosclerosis 1
Anemia, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:603278
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Renal salt wasting, Thrombocytopenia, Chronic kidney disease, Leukopenia, Hyperechogeni... OMIM:613845
Gaucher Disease Type 1
Osteolysis, Hematuria, Pericardial effusion, Increased bone mineral density, Hepatomegaly, Pancyt... ORPHA:77259
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Thrombocytopenia, Hearing impairment, EEG abnormality, Anemia OMIM:614946
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial pa... OMIM:617519
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Head titubation, Spastic gait, Sensorineural hearing impairme... ORPHA:99027
Adrenocortical Hypofunction, Chronic Primary Congenital
Hypernatriuria OMIM:103230
Late-Infantile/Juvenile Krabbe Disease
Tremor, Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic act... ORPHA:206443
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Polycythemia, Normocytic anemia, Normochromic anemia, Splenomegaly OMIM:222800
Nail-Patella-Like Renal Disease
Microscopic hematuria, Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2613
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Kyphoscoliosis, Increased varia... OMIM:616470
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Aminoaciduria OMIM:229100
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Hepatomegaly, Splenomegaly, Nephrotic syndrome, Proteinuria OMIM:105200
Lcat Deficiency
Hematuria, Hemolytic anemia, Hepatomegaly, Splenomegaly, Renal insufficiency, Proteinuria ORPHA:650
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Inability to walk, Aminoaciduria, Hearing impairment, Irritability, Loss of ability to walk in ea... OMIM:609560
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Hemolytic anemia, Reticulocytosis, Ataxia, Decreased hemoglobin concentration, Myoglobinu... ORPHA:713
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia, Proteinuria OMIM:618882
Gaucher Disease Type 3
Osteolysis, Hematuria, Dementia, Abnormal heart valve morphology, Mitral valve calcification, Per... ORPHA:77261
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Tremor, Lethargy, Hematuria, Dementia, Macrotia, Megaloblastic anemia, Cystathioninuria, Nephropa... OMIM:277400
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Anti-Glomerular Basement Membrane Disease
Hematuria, Glomerulopathy, Arthritis, Anemia, Renal insufficiency, Proteinuria ORPHA:375
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Cockayne Syndrome Type 1
Enamel hypoplasia, Tremor, Macrotia, Difficulty walking, Scarring, Gait disturbance, Ataxia, Hepa... ORPHA:90321
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Galactose Epimerase Deficiency
Hepatomegaly, Aminoaciduria, Weight loss, Splenomegaly ORPHA:79238
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Dystonia, Truncal ataxia, Difficulty walking, Polycythemia, Gait disturbance,... ORPHA:309854
Livedoid Vasculopathy
Leukocytosis, Atrophic scars, Polycythemia, Pancytopenia, Abnormality of the peripheral nervous s... ORPHA:542643
Systemic Sclerosis
Osteomyelitis, Acute kidney injury, Albuminuria, Pericarditis, Flexion contracture, Osteolytic de... ORPHA:90291
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Iga Nephropathy, Susceptibility To, 3
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercellu... OMIM:616818
Beta-Thalassemia Intermedia
Osteoporosis, Persistence of hemoglobin F, Leukocytosis, Proximal tubulopathy, Extramedullary hem... ORPHA:231222
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Osteolysis, Gait disturbance, Metacarpal osteolysis, Nephropathy, Carpal... ORPHA:2774
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Anemia, Splenomegaly, Cognitive impairment, Hypersplenism, A... ORPHA:846
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Low-molecular-weight proteinuria, Rickets, Proximal tubulopathy, Hypopho... OMIM:300554
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Generalized aminoaciduria, Hypoglycemia, Failure to thrive, Renal tubular dysfu... OMIM:606528
Developmental Malformations-Deafness-Dystonia Syndrome
Scoliosis, Macroglossia, Dysphagia, Kyphosis, Achalasia ORPHA:79107
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis, Aminoaciduria OMIM:204730
Glucose/Galactose Malabsorption
Abnormal oral glucose tolerance, Failure to thrive, Glycosuria OMIM:606824
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Pericardial effusion, Hypercalciuria, Hypermagnesiuria, Abnormal renal re... ORPHA:73224
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Craniosynostosis, Unossified vertebral bodies, Decreased calvarial ... OMIM:241500
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell m... OMIM:242900
Sialidosis Type 1
Tremor, Decreased nerve conduction velocity, Gait disturbance, Aminoaciduria, Ataxia, Sensorineur... ORPHA:812
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive, Upper limb hypertonia ORPHA:319199
Ddost-Cdg
Tremor, Nephrotic range proteinuria, Lipodystrophy, Failure to thrive, Osteopenia ORPHA:300536
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Depression, Head tremor, Resting tremor, Ataxia, Urinary incontinence, Sensorineural ... ORPHA:314404
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Ebola Hemorrhagic Fever
Lethargy, Thrombocytopenia, Leukopenia, Renal insufficiency, Proteinuria ORPHA:319218
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Recurrent fractures, Osteopetrosis, Hepatomegaly, Thrombocytopenia, Facial palsy... OMIM:611490
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Nephrotic Syndrome, Type 14
Mental deterioration, Focal segmental glomerulosclerosis, Lymphopenia, Ataxia, Hypoglycemia, Sens... OMIM:617575
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Mental Retardation, Autosomal Dominant 26
Scoliosis, Kyphosis, Arthrogryposis multiplex congenita, Small for gestational age OMIM:615834
Camptodactyly-Taurinuria Syndrome
Camptodactyly of finger, Aminoaciduria, Increased urinary taurine, Camptodactyly of toe ORPHA:1325
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Myh9-Related Disease
Congenital thrombocytopenia, Increased mean platelet volume, Nephropathy, Sensorineural hearing i... ORPHA:182050
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Lipodystrophy, Mem... ORPHA:329918
Glomerulopathy With Fibronectin Deposits 2
Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Dent Disease 2
Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Umbilical hernia, Hypercal... OMIM:300555
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Stimmler Syndrome
Abnormal dental enamel morphology, Aminoaciduria, Ataxia, Type II diabetes mellitus ORPHA:3199
Beckwith-Wiedemann Syndrome
Omphalocele, Hypercalciuria, Vesicoureteral reflux, Cardiomegaly, Congenital diaphragmatic hernia... ORPHA:116
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Flexion contracture, Failure to thrive, Kyphosis OMIM:618237
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Renal phosphate wasting, Hyperphosphaturia, Hypercalciuria, Increased susceptibilit... OMIM:612286
Igg4-Related Kidney Disease
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, Abnormal uret... ORPHA:449395
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Kyphosis, Lumbar hyperlordosis, Obesity OMIM:616756
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Generalized aminoaciduria, Proximal tubulopathy, Abnorma... OMIM:231680
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Vertebral segmentation defect,... OMIM:609813
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Hyperphosphaturia, Rickets, Aminoaciduria, Glycosuria, Abnormal... ORPHA:411629
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Gait ataxia, Flexion contracture of finger, Head tremor, Limb ataxia, Urinary ... ORPHA:101085
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Microcytic anemia, Splenomegaly ORPHA:231242
Cataract 47
Glycosuria OMIM:612018
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Von Hippel-Lindau Disease
Multiple renal cysts, Polycythemia, Papilledema, Renal cell carcinoma, Anxiety, Myocarditis, Elev... ORPHA:892
Cyanosis, Transient Neonatal
Hepatomegaly, Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Kyphosis, Thoracolumbar scoliosis, Knee flexion contracture, Hip contracture OMIM:313420
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Tremor, Microangiopathic hemolytic anemia, Reticulocytosis, Elevated c... OMIM:274150
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome, Cardiomegaly, Failure to thrive, Spleno... OMIM:269920
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Increased hematocrit, Pulmonic stenosis, Tricuspid stenosis, Hydronephrosis ORPHA:100076
Congenital Fiber-Type Disproportion Myopathy
Scoliosis, Pelvic girdle muscle weakness, Weight loss, Shoulder girdle muscle weakness, Generaliz... ORPHA:2020
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:613237
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Steppage gait, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:614455
Myasthenia Gravis
Pure red cell aplasia, Hemolytic anemia, Rheumatoid arthritis, Glycosuria, Hearing impairment ORPHA:589
Metatropic Dysplasia
Scoliosis, Platyspondyly, Arthrogryposis multiplex congenita, Anisospondyly, Long coccyx, Kyphosi... OMIM:156530
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Red urine, Hepatomegaly, Increased urine harderoporphyrin leve... OMIM:618892
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Dystonia, Axial dystonia, Low frustration tolerance, Bone-m... ORPHA:646
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Pseudo-Torch Syndrome 3
Acute kidney injury, Leukocytosis, Congenital thrombocytopenia, Cardiomegaly, Anemia, Proteinuria OMIM:618886
Cockayne Syndrome A
Tremor, Dementia, Atypical scarring of skin, Decreased nerve conduction velocity, Reduced subcuta... OMIM:216400
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Rickets, Difficulty walking, Hypophosphatemic rickets, Recurrent fractur... OMIM:241530
Dermotrichic Syndrome
Macrotia, Aganglionic megacolon, Aminoaciduria, EEG abnormality, Anemia ORPHA:99688
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Osteoporosis, Joint laxity, Hepatomegaly, Bicuspid aortic valve, Tubulointerst... OMIM:218330
Stiff-Person Syndrome
Depression, Agoraphobia, Opisthotonus, Exaggerated startle response, Anxiety, Anemia, Diabetes me... OMIM:184850
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Renal phosphate wasting, Hyperphosphaturia, Increased susceptibility to fractures, ... OMIM:612287
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Nep... OMIM:614131
Sialidosis Type 2
Muscle weakness, Kyphosis, Flexion contracture, Skeletal muscle atrophy ORPHA:87876
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Ovoid vertebral bodies, Kyphosis, Hypoplasia of the odontoid process ORPHA:93315
Xfe Progeroid Syndrome
Enamel hypoplasia, Absence of subcutaneous fat, Hearing impairment, Cachexia, Renal insufficiency... OMIM:610965
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Neutropenia, Macrothrombocytopenia, Thrombocytopenia, Ataxia, Proteinuria OMIM:603585
Gaucher Disease
Arthrogryposis multiplex congenita, Hematuria, Increased bone mineral density, Pancytopenia, Join... ORPHA:355
Cockayne Syndrome B
Osteoporosis, Tremor, Severe failure to thrive, Atypical scarring of skin, Decreased nerve conduc... OMIM:133540
Central Diabetes Insipidus
Failure to thrive, Polydipsia, Weight loss ORPHA:178029
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis, Obesity ORPHA:276630
Cystinosis, Nephropathic
Progressive neurologic deterioration, Generalized aminoaciduria, Rickets, Hypophosphatemic ricket... OMIM:219800
Mcdonough Syndrome
Scoliosis, Aplasia/Hypoplasia of the abdominal wall musculature, Kyphosis, Cachexia ORPHA:2471
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Craniosynostosis, Episodic hemolytic anemia, Enlarged kidney, ... ORPHA:251004
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials, Sensorineural hea... OMIM:616648
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Muscle weakness, Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Hematuria, Pericardial effusion, Abnormality of the urinary sy... ORPHA:93552
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Progressive neurologic deterioration, Depression, Apathy, Elevated circulating creatinine concent... ORPHA:247691
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Aminoaciduria, Ataxia, Dysmetria, Tetralogy of Fallot OMIM:250620
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Anuria, Elevated circulating c... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Anuria, Elevated circulating c... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Anuria, Elevated circulating c... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Anuria, Elevated circulating c... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Anuria, Elevated circulating c... OMIM:612926
Iga Nephropathy, Susceptibility To, 1
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:161950
Galloway-Mowat Syndrome 5
Glomerular sclerosis, Ataxia, Hearing impairment, Stage 5 chronic kidney disease, Nephrotic syndr... OMIM:617731
Borjeson-Forssman-Lehmann Syndrome
Scoliosis, Cervical spinal canal stenosis, Scheuermann-like vertebral changes, Kyphosis, Obesity OMIM:301900
Spastic Paraplegia 46, Autosomal Recessive
Scoliosis, Kyphosis, Lower limb muscle weakness, Limb muscle weakness OMIM:614409
Schaaf-Yang Syndrome
Scoliosis, Arthrogryposis multiplex congenita, Polyphagia, Camptodactyly, Flexion contracture, Ky... OMIM:615547
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate production, Anemia, Sp... OMIM:613673
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Distal renal tubular acidosis, Hypercalciuria, Failure to thrive, Bilateral sensorineura... OMIM:602722
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Stiff Person Spectrum Disorder
Difficulty walking, Agoraphobia, Emotional lability, Exaggerated startle response, Falls, Anxiety... ORPHA:3198
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephroti... OMIM:618349
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hyperphosphaturia, Rickets, Tooth abscess, Osteomalacia ORPHA:89937
Abcd Syndrome
Large for gestational age, Hearing impairment, Abnormal auditory evoked potentials, Aganglionic m... OMIM:600501
Pearson Syndrome
Lacticaciduria, Abnormal heart morphology, Reticulocytosis, Neutropenia, Ataxia, Glycosuria, Hepa... ORPHA:699
Sporadic Pheochromocytoma/Secreting Paraganglioma
Episodic paroxysmal anxiety, Elevated urinary dopamine, Tremor, Hematuria, Elevated urinary norep... ORPHA:276621
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Atrial septal defect, Focal segmental glomerulosclerosis, Enlarged kidney, Fle... OMIM:617303
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Macrotia, Proximal tubulopathy, Abnormal subcutaneous fat tissue distribution, Fl... OMIM:212065
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Cerebrotendinous Xanthomatosis
Personality disorder, Dystonia, Abnormal atrial septum morphology, Abnormal motor evoked potentia... ORPHA:909
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Hemoglobinuria, Anisocytosis, ... OMIM:300908
Adult Krabbe Disease
Progressive neurologic deterioration, Prolonged brainstem auditory evoked potentials, Gait distur... ORPHA:206448
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Failure to thrive ORPHA:2278
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617609
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Camptodactyly of finger, Kyphosis, Abnormality of the cervical spine, Acute rhabdomyol... ORPHA:48431
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Renal phosphate wasting, Hypophosphatemic rickets, Osteomalacia OMIM:193100
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Dementia, Depression, Ataxia, Sensorineural hearing impairment, Memory impairment, Op... OMIM:604121
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Muscle weakness, Scoliosis, Kyphosis ORPHA:85317
Cystinosis
Muscle weakness, Myopathy, Polydipsia, Failure to thrive ORPHA:213
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Lead Poisoning
Depression, Cranial hyperostosis, Imbalanced hemoglobin synthesis, Tubulointerstitial nephritis, ... ORPHA:330015
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Joint contracture of the 5th finger, Con... ORPHA:352490
Bruck Syndrome 1
Scoliosis, Platyspondyly, Kyphosis, Knee flexion contracture, Hip contracture, Elbow flexion cont... OMIM:259450
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:615573
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Low-molecular-weight proteinuria, Proximal tubulopathy, Elevated circula... ORPHA:411634
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Hypophosphatemic rickets, Hypercalciuria, Reduced bone mineral density, Osteom... ORPHA:157215
Bardet-Biedl Syndrome 9
Truncal obesity, Polydipsia, Polyphagia, Obesity OMIM:615986
Rowley-Rosenberg Syndrome
Reduced subcutaneous adipose tissue, Right ventricular hypertrophy, Aminoaciduria, Cor pulmonale OMIM:268500
Wieacker-Wolff Syndrome, Female-Restricted
Scoliosis, Dysphagia, Kyphosis, Flexion contracture, Achilles tendon contracture, Distal muscle w... OMIM:301041
Melas
Sensorineural hearing impairment, Anemia, Type II diabetes mellitus, Memory impairment, Cardiomyo... ORPHA:550
Acute Interstitial Pneumonia
Pericardial effusion, Elevated circulating creatinine concentration, Reduced hematocrit ORPHA:79126
Arthrogryposis, Distal, Type 2A
Restricted neck movement due to contractures, Flexion contracture of finger, Camptodactyly, Flexi... OMIM:193700
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Inability to walk, Dystonia, Aminoaciduria, Athetosis, Sensorineural hearing impairment, Irritabi... OMIM:612073
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Hepatocellular Carcinoma
Thrombocytosis, Polycythemia, Weight loss, Emotional lability, Hepatomegaly, Thrombocytopenia, Hy... ORPHA:88673
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:600995
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849