Immunodeficiency, and Delayed puberty

Diseases related with Immunodeficiency and Delayed puberty

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

Top matches:

Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune DiseaseSee also ADMIO2 (OMIM ), caused by mutation in the ZAP70 gene (OMIM ) on chromosome 2q12.

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

Medium match CYSTIC FIBROSIS

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.

CYSTIC FIBROSIS Is also known as mucoviscidosis|cf

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Pain
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about CYSTIC FIBROSIS

Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME

Other less relevant matches:

Medium match SYNDROMIC DIARRHEA

Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Medium match CHARGE SYNDROME

CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).

CHARGE SYNDROME Is also known as charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|hhs|charge association|coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|hall

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARGE 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

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

Top 5 symptoms//phenotypes associated to Immunodeficiency and Delayed puberty

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Pneumonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Recurrent respiratory infections Respiratory tract infection Intellectual disability Lymphopenia Global developmental delay Anemia Diabetes mellitus Scoliosis Depressed nasal bridge Microcephaly Abnormality of the liver Carcinoma Elevated hepatic transaminase Diarrhea Bronchiectasis Abnormality of the pinna Neoplasm Thrombocytopenia Downslanted palpebral fissures Intrauterine growth retardation Seizures Hypertelorism Autoimmunity Hypothyroidism Pain Eczema Decreased antibody level in blood Abnormal facial shape

Rare Symptoms - Less than 30% cases

Cognitive impairment Recurrent upper respiratory tract infections Abnormality of the hair Sepsis Hepatitis Chronic diarrhea Pancytopenia Tetralogy of Fallot Pulmonic stenosis Microtia Villous atrophy Broad forehead Wide mouth Polyhydramnios Narrow mouth Abnormal heart morphology Abnormality of the immune system Long philtrum Anteverted nares Ventricular septal defect Hernia Nystagmus Peripheral pulmonary artery stenosis Hypospadias Strabismus Down-sloping shoulders Relative macrocephaly Short thumb Intention tremor Neurological speech impairment Aplasia/Hypoplasia of the thymus High forehead Gait ataxia Micropenis Hypogonadism Clinodactyly of the 5th finger Behavioral abnormality Generalized hypotonia Ventriculomegaly Gait disturbance Tremor Macrocephaly Telangiectasia Skeletal muscle atrophy Brachydactyly Secretory diarrhea Malar flattening Cryptorchidism Muscular hypotonia Micrognathia Tics Epicanthus Prominent forehead Abnormality of the pancreas Hepatosplenomegaly Autoimmune hemolytic anemia Recurrent pneumonia Autoimmune thrombocytopenia Lymphadenopathy Leukemia Asthma Hemolytic anemia Cirrhosis Primary hypothyroidism Abnormal intestine morphology Hepatomegaly Sinusitis Inflammatory abnormality of the skin Dilatation Abnormal lung morphology Respiratory failure Gastroesophageal reflux Type I diabetes mellitus Interosseus muscle atrophy Non-Hodgkin lymphoma Increased sensitivity to ionizing radiation Cleft palate Metaphyseal chondrodysplasia Mucosal telangiectasiae Bone pain Progressive spinal muscular atrophy Sensorineural hearing impairment IgE deficiency Meningitis Hearing impairment Immunoglobulin IgG2 deficiency Ptosis Decreased/absent ankle reflexes Defective B cell differentiation Abnormality of the skeletal system Spondyloepimetaphyseal dysplasia Posterior choanal atresia Midface retrusion Abnormality of cardiovascular system morphology Microphthalmia Bifid femur Abnormal soft palate morphology Parathyroid hypoplasia Hypoplasia of the semicircular canal Syndactyly Parachute mitral valve Blindness Skeletal dysplasia Feeding difficulties Rhizomelia Hypercalcemia Mesomelia Atrial septal defect Hydrocephalus Respiratory insufficiency Talipes equinovarus Chronic hepatitis Dysphagia Optic atrophy Female hypogonadism Abnormal spermatogenesis Decreased proportion of CD4-positive T cells Recurrent sinopulmonary infections Resting tremor Premature graying of hair Splenomegaly Combined immunodeficiency Glucose intolerance Athetosis Spinal muscular atrophy Polycystic ovaries Slurred speech Breast carcinoma Cerebral palsy Reduced tendon reflexes Multiple cafe-au-lait spots Oculomotor apraxia Truncal ataxia Abnormal vertebral morphology Cafe-au-lait spot Limb ataxia Decreased T cell activation Choreoathetosis Type II diabetes mellitus Apraxia Lymphoma Chorea Progressive cerebellar ataxia Aplasia/Hypoplasia of the skin Telangiectasia of the skin Elevated alpha-fetoprotein Lymphoproliferative disorder Visual loss Neoplasm of the breast Chronic myelogenous leukemia Conjunctival telangiectasia Abnormality of chromosome stability Cellular immunodeficiency Chronic lymphatic leukemia Hypoplasia of the thymus Absent Achilles reflex Telangiectases of the cheeks Spinocerebellar tract degeneration Abnormality of the testis Myeloid leukemia B-cell lymphoma Renal neoplasm Recurrent bronchitis Chromosome breakage Recurrent lower respiratory tract infections Severe combined immunodeficiency Acute lymphoblastic leukemia Hepatocellular carcinoma Hypopigmentation of hair Hodgkin lymphoma IgA deficiency Prematurely aged appearance Patent ductus arteriosus Umbilical hernia Autism Anosmia Anophthalmia Cupped ear Obsessive-compulsive behavior Chorioretinal coloboma Overfolded helix Hand polydactyly Abnormality of the urinary system Laryngomalacia Reduced number of teeth Gonadotropin deficiency Abnormality of vision Abnormality of the outer ear Bifid scrotum Cutaneous syndactyly Cranial nerve paralysis Torticollis Plagiocephaly Holoprosencephaly Short chin Hemivertebrae Horseshoe kidney Hypogonadotrophic hypogonadism Hypocalcemia Narrow face Aspiration Anterior hypopituitarism Aplasia/Hypoplasia of the cerebellum Renal dysplasia Esophageal atresia Facial paralysis Retinal coloboma Duodenal atresia Eyelid coloboma Abnormally large globe Choanal stenosis Abnormal cranial nerve morphology Abnormality of tibia morphology Hypoplasia of the zygomatic bone Broad neck Double outlet right ventricle External ear malformation Anal stenosis Tracheoesophageal fistula Absent radius Abnormality of immune system physiology Weak cry Broad palm Mixed hearing impairment External genital hypoplasia Labial hypoplasia Vestibular dysfunction Hypoplasia of the ulna Mask-like facies Aqueductal stenosis Aplasia/Hypoplasia of the earlobes Preauricular skin tag Abnormal aortic valve morphology Retrognathia Coloboma Cleft upper lip Abnormality of the inner ear Anal atresia Talipes Unilateral facial palsy Facial asymmetry Prominent nasal bridge Pectus carinatum Attention deficit hyperactivity disorder Abnormal cardiac septum morphology Hand monodactyly Paralysis Highly arched eyebrow Postnatal growth retardation Feeding difficulties in infancy Abnormality of the eye Apnea Low-set, posteriorly rotated ears Hypoplasia of the cochlea Facial palsy Cleft lip Hydronephrosis Conductive hearing impairment Photophobia Hyposmia Iris coloboma Delayed eruption of teeth Lacrimation abnormality Abnormality of the thymus Microphallus Abnormality of the genital system Abnormality of female internal genitalia Interrupted aortic arch Omphalocele Dimple chin Arrhinencephaly Choanal atresia Narrow naris Abnormality of the cervical spine Small nail Lop ear Bilateral choanal atresia Vesicoureteral reflux Polyneuropathy Renal hypoplasia Aortic arch aneurysm Abnormality of the ribs Abnormality of the adrenal glands Dandy-Walker malformation Abnormality of bone mineral density Renal agenesis Abnormal palmar dermatoglyphics Webbed neck Square face Growth hormone deficiency Abnormal cerebellum morphology Hypoplasia of penis Distal amyotrophy Pulmonary arterial hypertension Abnormality of the endocrine system Dilatation of the cerebral artery Hashimoto thyroiditis Pulmonary embolism Thyroiditis Inflammation of the large intestine Patent foramen ovale Encephalitis Leukoencephalopathy Purpura Osteopenia Generalized osteoporosis Delayed skeletal maturation Congestive heart failure Microscopic nephrocalcinosis Echogenic fetal bowel Cellular metachromasia Biliary tract obstruction Elevated sweat chloride Absent vas deferens Obstructive azoospermia Recurrent bronchopulmonary infections Meconium ileus Chronic mucocutaneous candidiasis Immune dysregulation Productive cough Medial calcification of large arteries Dry skin Small for gestational age Sparse hair Jaundice Proptosis Osteoporosis Edema Frontal bossing Wide nasal bridge Low-set ears Abnormal serum interferon-gamma level Esophageal carcinoma Enterocolitis Oropharyngeal squamous cell carcinoma Susceptibility to herpesvirus Recurrent Aspergillus infections Carotid artery dilatation Functional abnormality of the bladder Autoimmune neutropenia Renal artery stenosis Renovascular hypertension Antiphospholipid antibody positivity B lymphocytopenia Decrease in T cell count Pancreatic adenocarcinoma Obstructive lung disease Wide nose Respiratory distress Insulin resistance Dehydration Abdominal distention Dyskinesia Nausea Infertility Malabsorption Cough Scarring Abdominal pain Vomiting Hypertension Pancreatitis Interstitial pneumonitis Recurrent ear infections Atopic dermatitis Scleroderma Celiac disease Colitis Interstitial pulmonary abnormality Neutropenia Arthritis Arthralgia Abnormality of the dentition Nephrocalcinosis Azoospermia Chronic pancreatitis Exocrine pancreatic insufficiency Chronic infection Nasal polyposis Rectal prolapse Pneumothorax Ileus Biliary cirrhosis Allergy Cor pulmonale Chronic obstructive pulmonary disease Chronic lung disease Neoplasm of the pancreas Hemoptysis Tachypnea Wheezing Bronchitis Male infertility Steatorrhea Malnutrition Pulmonary fibrosis Emphysema Intestinal obstruction Clubbing Portal hypertension Hypercalciuria Hepatic failure Bifid uvula Unsteady gait Gynecomastia Abnormality of the musculature Truncal obesity Cortical gyral simplification Cortical dysplasia Open bite Large hands Cubitus valgus Cachexia Acanthosis nigricans Sandal gap Narrow palpebral fissure Broad-based gait Biparietal narrowing Thick lower lip vermilion Interphalangeal joint contracture of finger Decreased testicular size Memory impairment Prominent nose Macroglossia Short foot Small hand Short palm Polymicrogyria Bulbous nose Cerebellar vermis atrophy Striae distensae Joint hyperflexibility Spasticity Abnormality of movement Abnormality of eye movement Distal muscle weakness Anxiety Difficulty walking Myoclonus Dystonia Cerebellar atrophy Dysarthria Peripheral neuropathy Flexion contracture Muscle weakness Restlessness Ataxia Abnormality of toe Moderately short stature Mood swings Small earlobe Abnormality of earlobe Abdominal obesity Panhypopituitarism Abnormal hair pattern Distal lower limb amyotrophy Scaphocephaly Joint hypermobility Toe syndactyly Premature birth Woolly hair Humoral immunodeficiency Hypermethioninemia Renal cortical microcysts Increased serum iron Hypergalactosemia Intractable diarrhea Intermittent diarrhea Increased mean platelet volume Trichorrhexis nodosa Abnormal thrombocyte morphology Large forehead Thrombocytosis Abnormality of iron homeostasis Underdeveloped supraorbital ridges Iron deficiency anemia Curly hair Brittle hair Hypoalbuminemia Leukopenia Aortic regurgitation Hepatic fibrosis Depressed nasal ridge Fine hair Aciduria Galactosuria Large placenta Synophrys Hyperhidrosis Short philtrum Camptodactyly of finger Blepharophimosis Intellectual disability, moderate Joint laxity Aggressive behavior EEG abnormality Pes planus Coarse facial features Mandibular prognathia Hyperactivity Pes cavus Abnormalities of placenta or umbilical cord Inguinal hernia Obesity Absent speech Kyphosis Hypertonia Intellectual disability, severe Hypoplasia of the corpus callosum Short neck Motor delay Delayed speech and language development High palate Defective B cell activation


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