Global developmental delay, and Nephrotic syndrome

Diseases related with Global developmental delay and Nephrotic syndrome

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


Top matches:

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 70


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

Medium match PIERSON SYNDROME


Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.

PIERSON SYNDROME Is also known as microcoria-congenital nephrotic syndrome|microcoria-congenital nephrosis syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Visual impairment
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PIERSON SYNDROME

Medium match GALLOWAY-MOWAT SYNDROME 5; GAMOS5


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

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Other less relevant matches:

Medium match GALLOWAY-MOWAT SYNDROME 4; GAMOS4


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, 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:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 4; GAMOS4

Medium match GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2


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

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

Medium match AICARDI-GOUTIERES SYNDROME 7; AGS7


Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1 ) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 7; AGS7

Medium match FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY


NPHS14 is an autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS) and resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects (summary by Prasad et al., 2017 and Lovric et al., 2017).For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY Is also known as primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY

Medium match PERIVENTRICULAR NODULAR HETEROTOPIA


Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.

PERIVENTRICULAR NODULAR HETEROTOPIA Is also known as heterotopia, periventricular, ehlers-danlos variant|periventricular nodular heterotopia 4, formerly|heterotopia, familial nodular|heterotopia, periventricular, x-linked dominant|pvnh4, formerly|nhbp|nodular heterotopia, bilateral periventricular|bpnh

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA

Medium match CEDNIK SYNDROME


CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEDNIK SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and Nephrotic syndrome

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Proteinuria Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Global developmental delay and Nephrotic syndrome. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Cerebral atrophy Hypertelorism Stage 5 chronic kidney disease Feeding difficulties Cerebellar hypoplasia Spasticity Glomerulosclerosis Focal segmental glomerulosclerosis Hearing impairment Short stature Peripheral neuropathy Arachnodactyly Visual impairment Polymicrogyria Wide nasal bridge Ataxia Diffuse mesangial sclerosis Congenital nephrotic syndrome

Rare Symptoms - Less than 30% cases


Developmental regression Strabismus Focal-onset seizure Delayed speech and language development Sensorineural hearing impairment Cryptorchidism Ichthyosis Micrognathia Hypogonadism Progressive microcephaly Macrotia Intellectual disability, severe Stroke Nystagmus Intrauterine growth retardation Cerebellar atrophy Abnormality of eye movement Recurrent infections Absent speech Encephalopathy Cortical dysplasia Agenesis of corpus callosum Hypoplasia of the corpus callosum Growth delay Pachygyria Abnormality of the nervous system Intellectual disability, mild Lower limb spasticity Progressive spastic paraplegia Muscular hypotonia Edema Areflexia Micropenis Brain atrophy Mandibular prognathia Depressed nasal bridge Abnormality of peripheral nerve conduction Poor head control Abnormality of vision Patent ductus arteriosus Palmoplantar hyperkeratosis Dilatation Abnormality of the dentition Syndactyly Congestive heart failure Absent testis Steroid-resistant nephrotic syndrome Primary hypothyroidism Primary adrenal insufficiency Focal impaired awareness seizure Adrenal insufficiency Abnormality of the eye Hypoalbuminemia Recurrent bacterial infections Hypocalcemia Lymphopenia Hypertriglyceridemia Epidermal acanthosis Abnormal corpus callosum morphology Perisylvian polymicrogyria Downslanted palpebral fissures Diffuse palmoplantar keratoderma Retinopathy Skeletal dysplasia Confusion Failure to thrive Intellectual disability, progressive Mental deterioration Severe global developmental delay Subependymal nodules Dolichocephaly Long face Dyslexia Widow's peak Enlarged cisterna magna Shawl scrotum Polyneuropathy Palmoplantar keratoderma Depressed nasal ridge Short chin Prominent nasal bridge Joint hypermobility Emphysema Abnormality of neuronal migration Abnormality of the coagulation cascade Aortic aneurysm Patent foramen ovale Bicuspid aortic valve Aortic regurgitation Lissencephaly Heterotopia Mitral regurgitation Optic atrophy Generalized-onset seizure Intestinal malrotation Myocardial infarction Spastic paraplegia Hypoglycemia Hypoplasia of the ciliary body Coarse facial features Gastroesophageal reflux Rod-cone dystrophy Minimal change glomerulonephritis Narrow forehead Esotropia Dysmetria High palate Scoliosis Tapered finger Peripheral demyelination Deeply set eye Ventriculomegaly Epicanthus Posterior lenticonus Thick vermilion border Visual loss Abnormality of movement Interstitial pulmonary abnormality Hand tremor Abnormal myelination Blindness Renal insufficiency Severe muscular hypotonia Microcoria Neurodevelopmental delay Severe vision loss Hypoplasia of the iris Hypoproteinemia Buphthalmos Lenticonus Thick eyebrow Delayed myelination Hypothyroidism Tetraplegia Immunodeficiency Ptosis Chilblains Serositis Atopic dermatitis Basal ganglia calcification Pericardial effusion Increased antibody level in blood Toe walking Spastic tetraparesis Vasculitis Progressive neurologic deterioration Tetraparesis Spastic tetraplegia Lymphadenopathy Epileptic encephalopathy Dystonia Hypsarrhythmia Open mouth Epileptic spasms Aplasia/hypoplasia of the extremities Ocular flutter Hepatomegaly Splenomegaly Paraplegia Thrombocytopenia Alopecia Muscular hypotonia of the trunk Irritability Skin rash Abnormality of the cerebral white matter Optic disc hypoplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Edema and Macrotia, related diseases and genetic alterations Ptosis and Round face, related diseases and genetic alterations Spasticity and Ventriculomegaly, related diseases and genetic alterations Cryptorchidism and Iris coloboma, related diseases and genetic alterations Cleft palate and Lymphedema, related diseases and genetic alterations Hearing impairment and Generalized myoclonic seizures, related diseases and genetic alterations

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