Intellectual disability, and Nephrotic syndrome

Diseases related with Intellectual disability and Nephrotic syndrome

In the following list you will find some of the most common rare diseases related to Intellectual disability and Nephrotic syndrome that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Intellectual disability
  • Short stature
  • Stage 5 chronic kidney disease
  • Hematuria
  • Nephrotic syndrome


SOURCES: OMIM MENDELIAN

More info about NEPHROTIC SYNDROME, TYPE 17; NPHS17

Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 70 Is also known as spg70

Related symptoms:

  • Global developmental delay
  • Peripheral neuropathy
  • Intellectual disability, mild
  • Abnormality of movement
  • Nephrotic syndrome


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 70

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Edema


SOURCES: OMIM MENDELIAN

More info about NEPHROTIC SYNDROME, TYPE 8; NPHS8

Other less relevant matches:

Medium match CAMOS SYNDROME

CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.

CAMOS SYNDROME Is also known as scar5|cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about CAMOS SYNDROME

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 5; GAMOS5

Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.

IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY Is also known as fcn3 deficiency|lectin complement activation pathway, defect in, 3|lcapd3

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Ventricular septal defect
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.

ACQUIRED PARTIAL LIPODYSTROPHY Is also known as apld, susceptibility to|progressive cephalothoracic lipodystrophy|barraquer-simons syndrome|lipodystrophy, cephalothoracic type|lipodystrophy, partial, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertension
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACQUIRED PARTIAL LIPODYSTROPHY

Medium match SLC35A2-CDG

SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).

SLC35A2-CDG Is also known as cdg iim|congenital disorder of glycosylation type iim|cdgiim|eiee22|cdg2m|congenital disorder of glycosylation type 2m|cdg syndrome type iim|cdg-iim|epileptic encephalopathy, early infantile, 22

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about SLC35A2-CDG

DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about DENYS-DRASH SYNDROME; DDS

Top 5 symptoms//phenotypes associated to Intellectual disability and Nephrotic syndrome

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Stage 5 chronic kidney disease Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Proteinuria Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Nephrotic syndrome. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Glomerulosclerosis Focal segmental glomerulosclerosis Global developmental delay Hearing impairment Cerebral atrophy Nystagmus Abnormal facial shape Spasticity Nephropathy

Rare Symptoms - Less than 30% cases

Short stature Hypertelorism Brain atrophy Renal insufficiency Glomerulonephritis Steroid-resistant nephrotic syndrome Microscopic hematuria Cerebellar atrophy Ataxia Glomerulopathy Cerebellar hypoplasia Mandibular prognathia Diffuse mesangial sclerosis Generalized hypotonia Arachnodactyly Hypertension Growth delay Edema Immunodeficiency Hematuria Feeding difficulties Delayed myelination Epileptic encephalopathy Hypsarrhythmia Thick vermilion border Open mouth Membranoproliferative glomerulonephritis Thick eyebrow Wide nasal bridge Lymphocytosis Progeroid facial appearance Loss of truncal subcutaneous adipose tissue Progressive loss of facial adipose tissue Abnormality of lipid metabolism Loss of subcutaneous adipose tissue from upper limbs Hypoplasia of the corpus callosum Coarse facial features Absent speech Epileptic spasms Lipoatrophy Encephalopathy Rod-cone dystrophy Decreased serum complement C3 Gastroesophageal reflux Hernia Aplasia/hypoplasia of the extremities Abnormality of the genital system Ovarian gonadoblastoma True hermaphroditism Anuria Streak ovary Low-grade fever Uterus didelphys Ambiguous genitalia, female Ambiguous genitalia, male Abnormal renal physiology Gonadoblastoma Male pseudohermaphroditism Aniridia Gonadal dysgenesis Nephroblastoma Primary amenorrhea Ocular flutter Congenital diaphragmatic hernia Ambiguous genitalia Amenorrhea Abdominal distention Lethargy Pallor Abnormality of the kidney Weight loss Micropenis Lipodystrophy Respiratory insufficiency Fever Cleft palate Neoplasm Premature ovarian insufficiency Dysmetria Polycystic ovaries Hypoalbuminemia Ventriculomegaly Epicanthus Progressive extrapyramidal movement disorder Aplasia/Hypoplasia of the cerebellum Abnormality of the skin Optic atrophy Dysarthria Motor delay Muscular hypotonia Thin glomerular basement membrane Congenital nephrotic syndrome Generalized edema Chronic kidney disease Peripheral demyelination Venous thrombosis Cerebral visual impairment Blindness Sensorineural hearing impairment Abnormal myelination Hand tremor Progressive spastic paraplegia Interstitial pulmonary abnormality Lower limb spasticity Abnormality of movement Intellectual disability, mild Peripheral neuropathy Deeply set eye Pachygyria Generalized hirsutism Esotropia Insulin resistance Hypertrichosis Hypertriglyceridemia Hepatic steatosis Hirsutism Autoimmunity Arthralgia Diabetes mellitus Alopecia Myopathy Minimal change glomerulonephritis Narrow forehead Polymicrogyria Ventricular septal defect Intrauterine growth retardation Visual impairment Delayed speech and language development High palate Micrognathia Scoliosis Recurrent abscess formation Membranous nephropathy Enterocolitis Verrucae Recurrent lower respiratory tract infections Recurrent skin infections Pneumonia Gonadal tissue inappropriate for external genitalia or chromosomal sex


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