Immunodeficiency, and Developmental regression

Diseases related with Immunodeficiency and Developmental regression

In the following list you will find some of the most common rare diseases related to Immunodeficiency and Developmental regression that can help you solving undiagnosed cases.

Top matches:

Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2017).

PILAROWSKI-BJORNSSON SYNDROME; PILBOS Is also known as developmental delay and speech apraxia with or without seizures

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PILAROWSKI-BJORNSSON SYNDROME; PILBOS

Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.

ALTERNATING HEMIPLEGIA OF CHILDHOOD Is also known as ahc

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD

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

Other less relevant matches:

Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

PROPIONIC ACIDEMIA Is also known as glycinemia, ketotic|ketotic hyperglycinemia|propionyl-coa carboxylase deficiency|propionic aciduria|pcc deficiency|hyperglycinemia with ketoacidosis and leukopenia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROPIONIC ACIDEMIA

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

15Q24 MICRODELETION SYNDROME Is also known as monosomy 15q24|del(15)(q24)

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 15Q24 MICRODELETION SYNDROME

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Krakow-type spondyloepimetaphyseal dysplasia is characterized by severe skeletal dysplasia, severe immunodeficiency, and developmental delay (Csukasi et al., 2018).

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK Is also known as immunoosseous dysplasia, krakow type

Related symptoms:

  • Global developmental delay
  • Neoplasm
  • Immunodeficiency
  • Skeletal dysplasia
  • Rhizomelia


SOURCES: OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK

WOOLLY HAIR, AUTOSOMAL RECESSIVE 3; ARWH3 Is also known as woolly hair, autosomal recessive 3, with hypotrichosis

Related symptoms:

  • Intellectual disability
  • Diarrhea
  • Immunodeficiency
  • Hyperhidrosis
  • Rigidity


SOURCES: OMIM MENDELIAN

More info about WOOLLY HAIR, AUTOSOMAL RECESSIVE 3; ARWH3

Top 5 symptoms//phenotypes associated to Immunodeficiency and Developmental regression

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Immunodeficiency and Developmental regression. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Hearing impairment Mental deterioration Nystagmus Short stature Intrauterine growth retardation Fever Thrombocytopenia Neutropenia Microcephaly Hyperhidrosis Strabismus Cryptorchidism Anemia Fine hair Ataxia Brain atrophy Scoliosis

Rare Symptoms - Less than 30% cases

Muscular hypotonia Camptodactyly of finger Failure to thrive Photophobia Platyspondyly Hip dislocation Steroid-resistant nephrotic syndrome Scarring Focal segmental glomerulosclerosis Abnormality of the kidney Glomerulosclerosis Lymphopenia Recurrent bacterial infections Feeding difficulties Hypertriglyceridemia Rigidity Lymphoma Epidermal acanthosis Nephrotic syndrome Melanocytic nevus Stage 5 chronic kidney disease Ichthyosis Recurrent respiratory infections Cerebellar atrophy Hepatomegaly Palmoplantar keratoderma Depressed nasal bridge Abnormal facial shape Ventriculomegaly Hypoplasia of the corpus callosum Intellectual disability, severe Pancytopenia Eczema Microphthalmia Dilatation Hernia Proteinuria Opacification of the corneal stroma Neoplasm Stroke Feeding difficulties in infancy Inguinal hernia Muscular hypotonia of the trunk Astigmatism Hypotrichosis Macrotia Vomiting Cardiomyopathy Dementia Corneal opacity Hypoglycemia Migraine Downslanted palpebral fissures Frontal bossing Autism Postnatal growth retardation Pointed chin Sensorineural hearing impairment Cognitive impairment Respiratory distress Hypothyroidism Headache Areflexia Pes cavus Abnormality of the eye Parkinsonism Dystonia Hypogonadism Peripheral neuropathy Myopia Diarrhea Kyphosis Micropenis Edema High pitched voice Emphysema Spondyloepiphyseal dysplasia Nephritis Radial deviation of finger Glomerulonephritis Epiphyseal dysplasia Hypertension Encephalitis Chronic kidney disease Coarse hair Reduced bone mineral density Slender finger Azoospermia Abnormality of digit Insomnia Hyperlipidemia Atherosclerosis Mild short stature Combined immunodeficiency High anterior hairline Lymphoproliferative disorder Cellular immunodeficiency Dentinogenesis imperfecta Cupped ear Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Osteopenia B-cell lymphoma Hypermelanotic macule Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Transient ischemic attack Abnormality of the vasculature Protuberant abdomen Glomerulopathy Multiple cafe-au-lait spots Steatorrhea Pneumonia Bone marrow hypocellularity Renal insufficiency Flared nostrils Nephropathy Bulbous nose Abnormality of skin pigmentation Hyperlordosis Malabsorption Thick nasal alae Deep plantar creases Toe clinodactyly Anisocoria Abnormality of nervous system morphology Dysplastic corpus callosum Large fleshy ears Long palm Conspicuously happy disposition Gastrointestinal atresia Medial flaring of the eyebrow Abnormality of the proximal phalanx of the thumb Motor delay Arteriosclerosis Unilateral cryptorchidism Wide nasal base Autoimmunity Lumbar hyperlordosis Thick upper lip vermilion Abnormality of epiphysis morphology Heterotopia Abnormal form of the vertebral bodies Overlapping fingers Microphallus Abnormal lung morphology Thin upper lip vermilion Intellectual disability, profound Microdontia Abnormal cerebellum morphology Abnormality of the dentition Congestive heart failure Decreased testicular size Intestinal atresia Waddling gait Short neck Thick hair Premature birth Gliosis Right ventricular cardiomyopathy Nail dystrophy Hypoplasia of the capital femoral epiphysis Alopecia of scalp Thin eyebrow Alopecia totalis Olivopontocerebellar atrophy Recurrent corneal erosions Hypoplastic fingernail Heat intolerance Follicular hyperkeratosis Corneal erosion Abnormal eyelid morphology Absent eyelashes Abnormal eyelash morphology Blepharitis Parakeratosis Alopecia universalis Uveitis Submucous cleft hard palate Oligodactyly Ectrodactyly Atonic seizures Congenital ichthyosiform erythroderma Abnormality of the vertebral column Absent septum pellucidum Mixed hearing impairment Hydroureter Absent eyebrow Keratitis Oxycephaly Cheilitis Bifid scrotum Unilateral chest hypoplasia Woolly hair Curly hair Sparse eyelashes Chronic diarrhea Sparse scalp hair Sparse hair Metaphyseal chondrodysplasia Spondyloepimetaphyseal dysplasia Mesomelia Hypercalcemia Rhizomelia Skeletal dysplasia Ichthyosis follicularis Abnormality of the upper urinary tract Abnormal pelvis bone morphology Thin fingernail Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Corneal scarring Intestinal obstruction Unilateral renal agenesis Mucopolysacchariduria Delayed skeletal maturation Erythema Respiratory tract infection Camptodactyly Hydronephrosis Umbilical hernia Hyperkeratosis Polydactyly Cerebral cortical atrophy Severe short stature Agenesis of corpus callosum Cerebellar hypoplasia Alopecia Flexion contracture Abnormality of the thorax Cleft palate Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Multiple lentigines Papule Talipes Erythroderma Hypohidrosis Psoriasiform dermatitis Scaling skin Urticaria Abnormality of the hand Plagiocephaly Abnormality of dental enamel Conjunctivitis Hemivertebrae Multicystic kidney dysplasia Abnormality of the nail Abnormality of the hair Abnormal vertebral morphology Hypoplasia of dental enamel Dry skin Renal dysplasia Aganglionic megacolon Omphalocele Choanal atresia Abnormality of the ribs Oligohydramnios Postaxial hand polydactyly Specific learning disability Nail dysplasia Ectodermal dysplasia Postaxial polydactyly Pulmonary hypoplasia Proximal placement of thumb Prominent nasal bridge Abnormality of the voice Ischemic stroke Acute encephalopathy Hyperglycinemia Episodic vomiting Methylmalonic aciduria Organic aciduria Ketonuria Ketoacidosis Ketosis Limb hypertonia Poor appetite Abnormality of immune system physiology Hyperammonemia Cerebellar hemorrhage Tachypnea Pancreatitis Dehydration Overgrowth Aciduria Decreased antibody level in blood Coma Metabolic acidosis Lactic acidosis Lethargy Apnea Hyperglycinuria Increased level of hippuric acid in urine Osteoporosis Difficulty walking Neurodegeneration Sensory neuropathy Bruising susceptibility Falls Peripheral axonal neuropathy Lymphadenopathy Paresthesia Paraplegia Abnormality of movement Spastic paraplegia Leukemia Hepatosplenomegaly Propionyl-CoA carboxylase deficiency Jaundice Reduced visual acuity Hyporeflexia Splenomegaly Atrial septal defect Gait disturbance Tremor Skeletal muscle atrophy Visual impairment Propionicacidemia Intolerance to protein Acidosis Constipation Abnormal bleeding Generalized tonic-clonic seizures Muscle stiffness Bradycardia Exotropia Involuntary movements Choreoathetosis Hemiparesis Status epilepticus Esotropia Chorea Tetraplegia Abnormality of eye movement Paralysis Slurred speech Dyspnea Dysphagia Fatigue Optic atrophy Pain Broad eyebrow Dermal translucency Periorbital fullness Speech apraxia Apraxia Macrocephaly Abnormal autonomic nervous system physiology Hemiplegia Arrhythmia Focal-onset seizure Encephalopathy Cerebral atrophy Absent testis Congenital nephrotic syndrome Diffuse mesangial sclerosis Primary hypothyroidism Primary adrenal insufficiency Adrenal insufficiency Focal impaired awareness seizure Hypoalbuminemia Hypocalcemia Retinopathy Stridor Abnormality of the nervous system Ptosis Episodic hemiplegia Episodic quadriplegia Bronchospasm Abnormality of the mitochondrion Facial paralysis Wheezing Anhidrosis Oral-pharyngeal dysphagia Impulsivity Hypopigmentation of the skin Gastrointestinal hemorrhage Nasal speech Broad forehead Polymicrogyria Thin vermilion border Long face Arachnodactyly Smooth philtrum Joint hyperflexibility Facial asymmetry Toe syndactyly Hypermetropia Severe global developmental delay Small for gestational age Attention deficit hyperactivity disorder Wide nose Autistic behavior Protruding ear Low-set, posteriorly rotated ears Joint laxity Aggressive behavior Deeply set eye High forehead Polyhydramnios Narrow mouth Hyperactivity Upslanted palpebral fissure Short palm Iris coloboma Clinodactyly Open mouth Abnormality of the outer ear Widely spaced teeth Sandal gap Microretrognathia Bilateral single transverse palmar creases Narrow face Hoarse voice Sparse and thin eyebrow Cafe-au-lait spot Short thumb Abnormality of the genital system Thick lower lip vermilion High, narrow palate Small nail Interphalangeal joint contracture of finger Congenital diaphragmatic hernia Growth hormone deficiency Underdeveloped nasal alae Delayed myelination Tapered finger Single transverse palmar crease Sleep disturbance Highly arched eyebrow Small hand Posteriorly rotated ears Hypospadias Peripheral demyelination Albinism Generalized hypopigmentation Fair hair Periodontitis Gingivitis Iris hypopigmentation Gingival bleeding Hypopigmentation of hair Generalized hyperpigmentation Resting tremor Sensory axonal neuropathy Cerebral hemorrhage Decreased nerve conduction velocity Spinocerebellar tract degeneration Abnormality of vision Cranial nerve paralysis Leukopenia Foot dorsiflexor weakness Skin ulcer Hyperpigmentation of the skin Amblyopia Cutaneous photosensitivity Epistaxis Abnormality of extrapyramidal motor function Bradykinesia White hair Hemophagocytosis Obesity Micrognathia Abnormality of cardiovascular system morphology Long philtrum Short nose Intellectual disability, mild Hypertonia Anteverted nares Wide nasal bridge Brachydactyly Epicanthus Delayed speech and language development High palate Hypertelorism Progressive peripheral neuropathy Generalized hypopigmentation of hair Recurrent systemic pyogenic infections Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Abnormal leukocyte morphology Hypofibrinogenemia Oculogyric crisis Recurrent bacterial skin infections Macular hypoplasia Partial albinism Hypersplenism Trichorrhexis nodosa


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Wide nasal bridge and Proptosis, related diseases and genetic alterations Ptosis and Atrial fibrillation, related diseases and genetic alterations Obesity and Leukoencephalopathy, related diseases and genetic alterations