Immunodeficiency, and Overgrowth

Diseases related with Immunodeficiency and Overgrowth

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

Top 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

High match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

High match PROTEUS SYNDROME

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

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

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.

FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME Is also known as fils syndrome

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Macrocephaly
  • Malar flattening


SOURCES: ORPHANET OMIM MENDELIAN

More info about FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME

Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME WITH RECURRENT VIRAL INFECTIONS Is also known as caspase 8 deficiency syndrome|autoimmune lymphoproliferative syndrome, type iib|alps2b|ceds|alps with recurrent viral infections

Related symptoms:

  • Short stature
  • Failure to thrive
  • Splenomegaly
  • Immunodeficiency
  • Pneumonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME WITH RECURRENT VIRAL INFECTIONS

Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.

PRIMARY IMMUNODEFICIENCY SYNDROME DUE TO P14 DEFICIENCY Is also known as primary immunodeficiency syndrome with short stature

Related symptoms:

  • Short stature
  • Immunodeficiency
  • Coarse facial features
  • Neutropenia
  • Hypopigmentation of the skin


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PRIMARY IMMUNODEFICIENCY SYNDROME DUE TO P14 DEFICIENCY

Top 5 symptoms//phenotypes associated to Immunodeficiency and Overgrowth

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Seizures Pain Motor delay Decreased antibody level in blood Delayed speech and language development Increased intracranial pressure Hypertelorism Skeletal dysplasia Macrotia Splenomegaly Abnormal facial shape Headache Hearing impairment Scoliosis Neoplasm Frontal bossing Kyphosis Cataract Cognitive impairment Autism Intellectual disability, mild Chronic diarrhea Myopia Strabismus Facial asymmetry Constipation Failure to thrive Epicanthus Ventriculomegaly Tall stature Malar flattening Intellectual disability, moderate

Rare Symptoms - Less than 30% cases

Clinodactyly of the 5th finger Hemangioma Multiple lipomas Prominent supraorbital ridges Melanocytic nevus Behavioral abnormality Abnormality of the dentition Palmoplantar hyperkeratosis Gait disturbance Goiter Muscular hypotonia Kyphoscoliosis Abnormality of the foot Midface retrusion Lymphopenia Autistic behavior Telangiectasia Subcutaneous nodule Absent speech Gliosis Renal cyst Macroglossia Polymicrogyria Dolichocephaly Nausea and vomiting Proptosis Cellulitis Lymphedema Generalized hyperkeratosis Optic atrophy Depressed nasal bridge Ptosis Dental malocclusion Carcinoma Nystagmus Recurrent respiratory infections Coarse facial features Broad forehead Neoplasm of the central nervous system Enlarged polycystic ovaries Multiple cafe-au-lait spots Long penis Hydrocele testis Meningioma Papilledema Lipoma Ovarian neoplasm Thick eyebrow Hypermetropia Confusion Anxiety Umbilical hernia Hamartoma Arteriovenous malformation Neutropenia Eczema Hydrocephalus Atrial septal defect Myopathy Diarrhea Skeletal muscle atrophy Vomiting Downslanted palpebral fissures Pancytopenia Cerebral atrophy Fever Ataxia Hepatomegaly Feeding difficulties Episodic vomiting Muscle weakness High palate Low-set ears Bone pain Abnormality of the rib cage Recurrent upper respiratory tract infections Polycystic kidney dysplasia Large hands Autoimmunity Sacral dimple Recurrent skin infections Poor head control Abnormality of the outer ear Accelerated skeletal maturation Short chin Multicystic kidney dysplasia Pointed chin Cerebral visual impairment Hypohidrosis Dental crowding Nephrolithiasis Hypoplastic toenails Metaphyseal chondrodysplasia 2-3 toe syndactyly Concave nasal ridge Spinocerebellar tract disease in lower limbs Tongue thrusting Hyperorality Cerebellar cortical atrophy Rhizomelia Hypercalcemia Toenail dysplasia Periorbital fullness Delayed CNS myelination Mesomelia Weak cry Heat intolerance Spondyloepimetaphyseal dysplasia Bruxism Arachnoid cyst Renal dysplasia Abnormality of the periventricular white matter Palpebral edema High forehead Impaired pain sensation Poor eye contact Long eyelashes Thick vermilion border Abnormality of the genital system Ventricular septal defect Agenesis of corpus callosum Hyporeflexia Patent ductus arteriosus Obesity Recurrent sinopulmonary infections Decreased T cell activation Long philtrum Defective B cell activation Hypopigmentation of the skin Wide nasal bridge Gastroesophageal reflux Hypopigmentation of hair Microcephaly Febrile seizures IgM deficiency Microtia Posteriorly rotated ears Partial albinism Cryptorchidism Mandibular hyperostosis Hypertrophy of skin of soles Hyperactivity Asthma Broad-based gait Bulbous nose Hepatitis Meningitis Vesicoureteral reflux Full cheeks Sleep disturbance High, narrow palate Hair-pulling Relative macrocephaly Telangiectases of the cheeks Hepatic failure EEG abnormality Unsteady gait Pneumonia Protruding ear Abnormality of the pinna Irritability Aggressive behavior Lymphadenopathy Hydronephrosis Neonatal hypotonia Deeply set eye Fulminant hepatic failure Antineutrophil antibody positivity Recurrent pyelonephritis Gingival overgrowth Chronic otitis media Widely spaced teeth Recurrent bacterial infections Narrow palate Low anterior hairline Spastic gait Abnormality of the gingiva Hallucinations Limb ataxia Long ear Amblyopia Flat occiput Bowing of the long bones Progressive neurologic deterioration Hypertrichosis Retinal thinning Depressed nasal ridge Cerebral dysmyelination Psychosis Type II diabetes mellitus Optic disc pallor Synostosis of joints Heart murmur Cranial hyperostosis Connective tissue nevi Patellar dislocation Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Synovitis Reduced ejection fraction Abnormal echocardiogram Dysostosis multiplex Impaired smooth pursuit Delusions Thoracolumbar kyphosis Severe sensorineural hearing impairment Bowing of the legs Aseptic necrosis Limb dystonia Bronchitis Thickened calvaria Abnormality of the sternum Femoral bowing Neurodevelopmental delay Vacuolated lymphocytes Bowel incontinence Open bite Oligosacchariduria Peripheral demyelination Flattened moderately deformed vertebrae Abnormality of the skeletal system Babinski sign Delayed skeletal maturation Inguinal hernia Areflexia Depressivity Hernia Cerebellar atrophy Intellectual disability, severe Short neck Talipes equinovarus Dysarthria Prominent forehead Hyperreflexia Spasticity Sensorineural hearing impairment Abnormality of the ilium Abnormality of joint mobility Abnormal cornea morphology Abnormality of dental structure Progressive joint destruction Synovial hypertrophy Growth delay Hypoplastic inferior ilia Gait ataxia Hip dysplasia Abnormality of the cerebral white matter Otitis media Delayed myelination Progressive cerebellar ataxia Neurodegeneration Highly arched eyebrow Spondylolysis Retinal degeneration Increased vertebral height Dysmetria Genu valgum Increased hepatic glycogen content Mandibular prognathia Neurological speech impairment Corneal opacity Generalized abnormality of skin Pectus carinatum Respiratory tract infection Mental deterioration Arthritis Hepatosplenomegaly Decreased pulmonary function Osteopenia Depigmentation/hyperpigmentation of skin Abnormal lung lobation Central heterochromia Dysdiadochokinesis Hodgkin lymphoma Thyroiditis Hyperthyroidism Acute myeloid leukemia Cystic hygroma Abnormality of the thyroid gland Macule Cutis marmorata Hand polydactyly Intracranial hemorrhage Incoordination Hashimoto thyroiditis Breast carcinoma Melanoma Hypopigmented skin patches Drooling Cranial nerve paralysis Neoplasm of the skin Gynecomastia Cafe-au-lait spot Exotropia Broad thumb Intention tremor Renal cell carcinoma Scaphocephaly Abnormal cerebellum morphology Hamartomatous polyposis Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Fibroma Papilloma Abnormality of the vasculature Cavernous hemangioma Cellular immunodeficiency Bone cyst Intestinal polyposis Ovarian cyst Astrocytoma Abnormality of the uterus Furrowed tongue Megalencephaly Skin tags Prolactin excess Lymphoma Hypoplasia of the maxilla Endometrial carcinoma Developmental regression Ischemic stroke Hyperammonemia Tachypnea Pancreatitis Dehydration Aciduria Coma Metabolic acidosis Lactic acidosis Lethargy Stroke Feeding difficulties in infancy Poor appetite Apnea Muscular hypotonia of the trunk Hypoglycemia Acidosis Osteoporosis Arrhythmia Encephalopathy Thrombocytopenia Dystonia Cardiomyopathy Anemia Abnormality of immune system physiology Limb hypertonia Palmoplantar keratoderma Micrognathia Joint hypermobility Papule Leukemia Abnormality of the kidney Proximal muscle weakness Hypothyroidism Narrow mouth Pectus excavatum Dilatation Tremor Brachydactyly Propionicacidemia Ketosis Intolerance to protein Propionyl-CoA carboxylase deficiency Increased level of hippuric acid in urine Cerebellar hemorrhage Hyperglycinuria Acute encephalopathy Hyperglycinemia Methylmalonic aciduria Organic aciduria Ketonuria Ketoacidosis Follicular thyroid carcinoma Colorectal polyposis Neoplasm of the thymus Abnormality of the wrist Myofibrillar myopathy Buphthalmos Arterial thrombosis Anisocytosis Hemihypertrophy Abnormality of the neck Lower limb asymmetry Varicose veins Deep venous thrombosis Macroorchidism Abnormality of finger Visceral angiomatosis Spinal cord compression Capillary hemangioma Exostoses Neoplasm of the lung Irregular hyperpigmentation Spinal canal stenosis Pulmonary embolism Generalized hyperpigmentation Neurofibromas Pericardial effusion Disproportionate tall stature Thin bony cortex Thick nasal alae Decreased muscle mass Calvarial hyperostosis Abnormal subcutaneous fat tissue distribution Retinal nonattachment Bronchogenic cyst Retinal hamartoma Thymus hyperplasia Nevus sebaceous Facial hyperostosis Narrow internal auditory canal Sirenomelia Macrodactyly Portal vein thrombosis Metatarsus valgus Asymmetric growth Epidermal nevus Lymphangioma Testicular neoplasm Upper limb asymmetry Keloids Nephrogenic diabetes insipidus Epibulbar dermoid Venous malformation Thrombophlebitis Vascular skin abnormality Asymmetry of the thorax Hallux valgus Diabetes insipidus Progressive macrocephaly Merkel cell skin cancer Craniosynostosis Joint stiffness Hyperkeratosis Glaucoma Abdominal pain Visual loss Abnormality of cardiovascular system morphology Syndactyly Anteverted nares Lobular carcinoma in situ Multiple trichilemmomata Ductal carcinoma in situ Hip dislocation Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Finger syndactyly Carious teeth Hyperostosis Sinusitis Chorioretinal coloboma Lipodystrophy Cachexia Growth abnormality Reduced number of teeth Abnormality of the metacarpal bones Venous thrombosis Abnormality of dental enamel Generalized hirsutism Abnormality of the nail Abnormal vertebral morphology Abnormality of retinal pigmentation Abnormality of skin pigmentation Thickened skin Heterotopia Abnormal form of the vertebral bodies Open mouth Epidermal acanthosis High myopia Round face Nevus Sudden cardiac death Abdominal distention Long face Recurrent bronchopulmonary infections


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Absent speech, related diseases and genetic alterations Ptosis and Joint hypermobility, related diseases and genetic alterations Obesity and Conductive hearing impairment, related diseases and genetic alterations