Peripheral neuropathy, and Renal agenesis

Diseases related with Peripheral neuropathy and Renal agenesis

In the following list you will find some of the most common rare diseases related to Peripheral neuropathy and Renal agenesis that can help you solving undiagnosed cases.


Top matches:

Low match EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY


Ehlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.

EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY Is also known as eds, classic-like type|ehlers-danlos syndrome, classic-like type|ehlers-danlos syndrome due to tenascin-x deficiency|eds due to tnx deficiency|tnx deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY

Low match DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS


The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

Low match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

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Other less relevant matches:

Low match COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11


COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11 Is also known as coxpd11|encephaloneuromyopathy, infantile, due to mitochondrial translation defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11

Low match CLOVES SYNDROME


CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.

CLOVES SYNDROME Is also known as cloves syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome|clove syndrome|congenital lipomatous overgrowth,

Related symptoms:

  • Seizures
  • Scoliosis
  • Nystagmus
  • Cataract
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CLOVES SYNDROME

Low match SMITH-MAGENIS SYNDROME


Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about SMITH-MAGENIS SYNDROME

Low match BOR SYNDROME


Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

BOR SYNDROME Is also known as melnick-fraser syndrome|branchiootorenal syndrome|branchiootorenal dysplasia

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BOR SYNDROME

Low match DUANE-RADIAL RAY SYNDROME; DRRS


Duane-radial ray syndrome, also known as Okihiro syndrome, is an autosomal dominant disorder characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies. The combination of the 3 findings was earlier referred to as 'acro-renal-ocular syndrome.' The ocular anomalies usually include Duane anomaly (see {126800}), but this finding may be absent in some patients (Kohlhase et al., 2003). Similarly, renal anomalies are not always seen and may not have been investigated, particularly in cases reported before routine renal imaging (Aalfs et al., 1996). Other less common features include sensorineural deafness and gastrointestinal anomalies, such as imperforate anus.The Holt-Oram syndrome (OMIM ), caused by mutation in the TBX5 gene (OMIM ) on chromosome 12q24, shows similar anomalies of the upper limb, but can be differentiated from Duane-radial ray syndrome by the absence of ocular and renal anomalies and the presence of severe congenital heart defects (Kohlhase, 2003).

DUANE-RADIAL RAY SYNDROME; DRRS Is also known as dr syndrome|acrorenoocular syndrome|duane anomaly with radial ray abnormalities and deafness|okihiro syndrome

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about DUANE-RADIAL RAY SYNDROME; DRRS

Low match DOWN SYNDROME


Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Renal agenesis

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cataract Uncommon - Between 30% and 50% cases
Renal hypoplasia Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Peripheral neuropathy and Renal agenesis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Myopia Strabismus Renal hypoplasia/aplasia Generalized hypotonia Sensorineural hearing impairment Microcephaly Intellectual disability Seizures Hypothyroidism Renal dysplasia Brachydactyly Feeding difficulties Hypertension Ectopic kidney Epicanthus Delayed speech and language development Hypertelorism Obesity Bilateral sensorineural hearing impairment Abnormal heart morphology Scoliosis Polyneuropathy Short stature Conductive hearing impairment Sandal gap Hydronephrosis Gait disturbance Anemia Hyporeflexia Vesicoureteral reflux

Rare Symptoms - Less than 30% cases


Mandibular prognathia Abnormal dermatoglyphics Triphalangeal thumb Midface retrusion Thrombocytopenia Growth delay Nystagmus Neoplasm Postnatal growth retardation Ventriculomegaly Deeply set eye Diabetes mellitus Cognitive impairment Cardiomyopathy Intrauterine growth retardation Hypoplasia of the corpus callosum Recurrent infections Muscle weakness Attention deficit hyperactivity disorder Facial asymmetry Impaired pain sensation Failure to thrive in infancy Ptosis Open mouth Constipation Microcornea Pes planus Microphthalmia Brachycephaly Upslanted palpebral fissure Clinodactyly of the 5th finger Abnormality of cardiovascular system morphology Short nose Depressed nasal bridge Hydrocephalus Facial palsy Short philtrum Renal malrotation Small for gestational age Synophrys Aganglionic megacolon Anal atresia Polydactyly Insulin resistance Pulmonary hypoplasia Abnormality of the kidney Oligohydramnios Short neck Microdontia Intestinal malrotation Renal insufficiency Flat face Microtia Long face Cleft palate High palate Unilateral renal agenesis High forehead Anteverted nares Long philtrum Cerebral atrophy Wide nasal bridge Joint laxity Sensory neuropathy Respiratory distress Single transverse palmar crease Hernia Spina bifida occulta Neonatal hypotonia Bifid uvula Pain Downturned corners of mouth Dementia Paralysis Abnormality of the pinna Pulmonary edema Senile plaques Acute monocytic leukemia Hypoxemia Retrognathia Complete atrioventricular canal defect Dysphagia Corticospinal tract hypoplasia Abnormal tracheobronchial morphology Hyperacusis Hypoplastic iliac wing Thickened nuchal skin fold Double outlet right ventricle Polycystic kidney dysplasia Ureteropelvic junction obstruction Lacrimation abnormality Stenosis of the external auditory canal External ear malformation Mixed hearing impairment Premature graying of hair Preauricular pit Epiphora Cupped ear Neurofibrillary tangles Large face Polycythemia Atresia of the external auditory canal Protruding tongue Thrombocytosis Multicystic kidney dysplasia Congenital hip dislocation Narrow face Preauricular skin tag Atrial fibrillation Acute lymphoblastic leukemia Delayed eruption of primary teeth Hand polydactyly Abnormal localization of kidney Anxiety Delayed puberty Neutrophilia Toe syndactyly Neurological speech impairment Broad forehead Joint stiffness Feeding difficulties in infancy Atlantoaxial instability Retinal detachment EEG abnormality Crackles Gastroesophageal reflux Transient myeloproliferative syndrome Brushfield spots Round ear Left-to-right shunt Frontal bossing Cleft upper lip Sleep disturbance Taurodontia Hoarse voice Abnormality of the ureter Self-injurious behavior Chronic otitis media Overbite Precocious puberty Tented upper lip vermilion Aplasia/Hypoplasia of the corpus callosum Hypercholesterolemia Stereotypy Abnormality of the fontanelles or cranial sutures Short middle phalanx of the 5th finger Myeloproliferative disorder Abnormal form of the vertebral bodies Abnormality of the lymphatic system Duodenal stenosis Hypertriglyceridemia Decreased fetal movement Shallow acetabular fossae Lacrimal duct stenosis Arteria lusoria Bilateral renal agenesis Bladder diverticulum Optic disc hypoplasia Macroglossia Duane anomaly Type II diabetes mellitus Thick lower lip vermilion Small thenar eminence Depressed nasal ridge Abnormality of the nasopharynx Fused cervical vertebrae Neutropenia Retinal coloboma Choanal stenosis Anal stenosis Absent radius Bilateral single transverse palmar creases Micrognathia Narrow palate Absent thumb Postural instability Crossed fused renal ectopia Preaxial hand polydactyly Palpebral fissure narrowing on adduction Malar flattening Abnormality of the dentition Edema Upper limb muscle hypoplasia Slit-like opening of the exterior auditory meatus Umbilical hernia Developmental regression Pectoralis hypoplasia Impaired convergence Hemifacial hypoplasia Impaired ocular abduction Impaired ocular adduction Unilateral deafness Radial deviation of the hand Leukemia Aplasia of metacarpal bones Hypotrichosis Short palm Postaxial polydactyly Hypoplasia of the ulna Breast carcinoma Abnormality of the middle ear ossicles Unilateral renal hypoplasia Dilatated internal auditory canal Abnormality of blood and blood-forming tissues Incomplete partition of the cochlea type II Abnormal lacrimal duct morphology Abnormality of the cerebrum Abnormality of the renal collecting system Lacrimal duct aplasia Euthyroid goiter Bilateral renal dysplasia Enlarged cochlear aqueduct Renal steatosis Hypoplasia of the cochlea Cochlear malformation Abnormality of immune system physiology Branchial fistula Congenital hypothyroidism Narrow mouth Branchial cyst Body odor Cholesteatoma Prematurely aged appearance Cholelithiasis Atrioventricular canal defect Preaxial polydactyly Alzheimer disease Abnormality of the urinary system Hypoplasia of the radius Hydroureter Horseshoe kidney Decreased fertility Short thumb Choanal atresia Gustatory lacrimation Iris coloboma Broad palm Coloboma Transposition of the great arteries Dilatation Syndactyly Atrial septal defect Talipes equinovarus Ventricular septal defect Short humerus Hyponatremia Pelvic mass Severe sensorineural hearing impairment Tremor Dysarthria Cryptorchidism Abnormal facial shape Ataxia Profound sensorineural hearing impairment Prominent nasal tip Cystic renal dysplasia Hypoplasia of the iris Infantile spasms Clinodactyly Anonychia Abnormality of the fingernails Short phalanx of finger Small nail Hypsarrhythmia High myopia Dandy-Walker malformation Abnormality of the skin Nail dysplasia Prominent nose Immunodeficiency Inguinal hernia Short distal phalanx of finger Dysmetria Bradykinesia Pigmentary retinopathy Limb undergrowth Decreased testicular size Convex nasal ridge Progressive cerebellar ataxia Broad nasal tip Triangular face Falls Hypermetropia Babinski sign Dilated cardiomyopathy Prominent nasal bridge Abnormal pyramidal sign Retinopathy Sparse hair Rigidity Micropenis Hypogonadism Severe short stature Pes cavus Everted lower lip vermilion Bulbous nose Hypotelorism Joint hypermobility Psoriasiform dermatitis Rheumatoid arthritis Hyperextensible skin Spina bifida Thin skin Ambiguous genitalia Mitral valve prolapse Gastrointestinal hemorrhage Bruising susceptibility Arachnodactyly Soft skin Joint hyperflexibility Stroke Scarring Arthritis Myalgia Proximal muscle weakness Arthralgia Arrhythmia Fatigue Skeletal muscle atrophy Atrophic scars Adrenal hypoplasia Nail dystrophy Premature arteriosclerosis Wide mouth Respiratory tract infection Abnormality of the nervous system Coarse facial features Recurrent respiratory infections Blindness Optic atrophy Low-set ears Quadricuspid aortic valve Ambiguous genitalia, female Hiatus hernia Congenital adrenal hyperplasia Arteriosclerosis Rectal prolapse Poor wound healing Muscle fiber splitting Increased connective tissue Precocious atherosclerosis Bicornuate uterus Proximal amyotrophy Adrenal hyperplasia Sloping forehead Apraxia Enlarged peripheral nerve CNS hypomyelination Abnormality of the skeletal system Microvesicular hepatic steatosis Tongue fasciculations Breech presentation Increased CSF lactate Hypoventilation Renal tubular acidosis Hyperkalemia Chronic kidney disease Severe muscular hypotonia Agenesis of corpus callosum Fasciculations Decreased liver function Pachygyria Epileptic encephalopathy Increased serum lactate Delayed myelination Renal cyst Hepatic steatosis Lactic acidosis Abnormality of the foot Splenomegaly Hypoglycemia Lethargy Cranial hyperostosis Splayed toes Epididymal cyst Encephalomalacia Macrodactyly Hemimegalencephaly Epidermal nevus Cranial asymmetry Capillary malformation Venous malformation Spinal dysraphism Congenital cataract Tethered cord Hemihypertrophy Lower limb asymmetry Lipoma Lipoatrophy Partial agenesis of the corpus callosum Horizontal nystagmus Generalized-onset seizure Overgrowth Nevus Arthrogryposis multiplex congenita Acidosis Epidermal acanthosis Dysdiadochokinesis Abnormality of lipid metabolism Cerebellar vermis atrophy Long nose Truncal obesity Cortical gyral simplification High pitched voice Sensory axonal neuropathy Bilateral cryptorchidism Postural tremor Slurred speech Low hanging columella Goiter Leukopenia Acanthosis nigricans Short chin Bone marrow hypocellularity Hypergonadotropic hypogonadism Lymphopenia Abnormal lung morphology Broad-based gait Cutaneous photosensitivity Increased circulating gonadotropin level Misalignment of teeth Respiratory failure Abnormal renal corticomedullary differentiation Cerebral cortical atrophy Myoclonus Areflexia Encephalopathy Absent speech Myopathy Respiratory insufficiency Hepatomegaly Failure to thrive Elevated serum creatinine Shuffling gait Progressive muscle weakness Peripheral demyelination Motor delay Visual impairment Flexion contracture Long neck Gastrointestinal stroma tumor Multinodular goiter Glioma Chronic lung disease Acute megakaryocytic leukemia



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