Immunodeficiency, and Jaundice

Diseases related with Immunodeficiency and Jaundice

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

Top matches:

Immunodeficiency-47 is an X-linked recessive complex immunodeficiency syndrome characterized by recurrent bacterial infections, hypogammaglobulinemia, liver dysfunction, and defective glycosylation of serum proteins. Some patients may also have neurologic abnormalities (summary by Jansen et al., 2016).

IMMUNODEFICIENCY 47; IMD47 Is also known as immunodeficiency and hepatopathy with or without neurologic features

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 47; IMD47

A rare, autosomal recessive genetic syndrome caused by mutations in the RAB27A gene. It is characterized by hypopigmentation of the skin, hair and eyes, recurrent infections, neutropenia, and immune system abnormalities. Patients are prone to develop hemophagocytic lymphohistiocytosis.

GRISCELLI SYNDROME TYPE 2 Is also known as hypopigmentation-immunodeficiency with or without neurologic impairment syndrome|griscelli-pruniÉras syndrome type 2

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Fever
  • Hypertonia
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about GRISCELLI SYNDROME TYPE 2

Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 Is also known as hemophagocytic reticulosis, familial|hlh1|hemophagocytic lymphohistiocytosis, familial|erythrophagocytic lymphohistiocytosis, familial|reticulosis, familial histiocytic|hplh1|fhl|fhlh|hplh|fel

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

Other less relevant matches:

GRISCELLI SYNDROME, TYPE 2; GS2 Is also known as partial albinism and immunodeficiency syndrome|griscelli syndrome with hemophagocytic syndrome|paid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GRISCELLI SYNDROME, TYPE 2; GS2

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

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

Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1 Is also known as xscid|severe combined immunodeficiency, x-linked, t cell-negative, b cell-positive, nk cell-negative|imd4|scidx|immunodeficiency 4|scid, x-linked

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Diarrhea
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1

SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015).

ISOLATED SEDOHEPTULOKINASE DEFICIENCY Is also known as isolated shpk deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED SEDOHEPTULOKINASE DEFICIENCY

Low match COG6-CGD

CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

Top 5 symptoms//phenotypes associated to Immunodeficiency and Jaundice

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% 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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Pancytopenia

Uncommon Symptoms - Between 30% and 50% cases

Anemia Hepatosplenomegaly Thrombocytopenia Failure to thrive Splenomegaly Growth delay Decreased antibody level in blood Diarrhea Leukopenia Fever Generalized hypotonia Hemophagocytosis Short stature Lymphadenopathy Partial albinism Elevated hepatic transaminase Chronic diarrhea Abnormality of the liver Sepsis Peripheral demyelination Edema Hearing impairment Hyperbilirubinemia Abnormal facial shape Muscular hypotonia Ataxia Cirrhosis Hepatic failure Albinism Pulmonary infiltrates Iris hypopigmentation Combined immunodeficiency Neutropenia

Rare Symptoms - Less than 30% cases

Vomiting Generalized edema Nystagmus Malabsorption Abnormal cardiac septum morphology Wide nose Atrial septal defect Cerebellar atrophy Trichorrhexis nodosa Hypofibrinogenemia Rigidity Hernia Abnormality of movement Strabismus Abnormal heart morphology Ventriculomegaly Abnormal bleeding Arthrogryposis multiplex congenita Hip dysplasia Lymphopenia Cholestasis Ventricular septal defect Hypopigmentation of the skin Narrow mouth Cranial nerve paralysis Low-set ears White hair Hepatitis Abnormality of the pinna Respiratory tract infection Polyhydramnios Wide nasal bridge Severe combined immunodeficiency Renal insufficiency Skin rash Leukemia Hypopigmentation of hair Hemolytic anemia Petechiae Premature graying of hair Hyperlipidemia Lymphoma Hypertriglyceridemia Nausea and vomiting Hypertonia Epicanthus Meningitis Micronodular cirrhosis Recurrent bacterial infections Purpura Hepatic steatosis Microcephaly Sensorineural hearing impairment Brittle hair Abnormality of the nervous system Pneumonia Intrauterine growth retardation Hypoalbuminemia Ptosis Humoral immunodeficiency Feeding difficulties Neoplasm Retinal coloboma Short 5th finger Cupped ear Failure to thrive in infancy Precocious puberty Poor suck Abnormality of the urinary system Vitiligo Depressed nasal tip Severe hearing impairment IgA deficiency Anal stenosis Thyroiditis Hashimoto thyroiditis Congenital hypothyroidism Autoimmune hemolytic anemia Cerebellar vermis atrophy Transposition of the great arteries Long palpebral fissure Bilateral cryptorchidism Celiac disease Right bundle branch block Bundle branch block Hydroureter Scaphocephaly Preauricular pit Autoimmune thrombocytopenia Patellar dislocation Short columella Overweight Single transverse palmar crease Abnormal dermatoglyphics Intellectual disability, moderate Astigmatism Anal atresia Autoimmunity Coloboma Paralysis Protruding ear Postnatal growth retardation Feeding difficulties in infancy Abnormality of the kidney Joint laxity Polymicrogyria Anxiety Hydronephrosis Hypoglycemia Pes planus Macrotia Hypothyroidism Micropenis Posteriorly rotated ears Severe short stature Joint hypermobility Hirsutism Horseshoe kidney Small nail Congenital hip dislocation Increased body weight Sparse and thin eyebrow Abnormal vertebral morphology Cafe-au-lait spot Long eyelashes Renal dysplasia Heterotopia Recurrent otitis media Blue sclerae Highly arched eyebrow Coarctation of aorta Congenital diaphragmatic hernia Microdontia Otitis media Growth hormone deficiency Dental malocclusion Prominent nose Intestinal malrotation Hypodontia Mitral stenosis Recurrent bronchitis Optic nerve coloboma Abnormality of the renal tubule Talipes equinovarus Increased urinary sedoheptulose Abnormality of globe location Neonatal asphyxia Abnormal CNS myelination Postprandial hyperglycemia Hypochromic anemia Subcortical cerebral atrophy Hypochromic microcytic anemia Cerebral atrophy Cholestatic liver disease Recurrent hypoglycemia Breech presentation Diastasis recti Severe postnatal growth retardation Shallow orbits Steatorrhea Hyperglycemia Portal hypertension Hypoplasia of the corpus callosum Hyperhidrosis Arnold-Chiari malformation Abnormal intestine morphology Abnormal T cell morphology Gastrointestinal inflammation Macrovesicular hepatic steatosis Impaired T cell function Proximal tubulopathy Abnormal cortical gyration Neurodevelopmental delay Loss of consciousness Inflammation of the large intestine Hypohidrosis Cerebral cortical atrophy Decreased fetal movement Focal-onset seizure Postaxial polydactyly Muscular hypotonia of the trunk Aggressive behavior Neonatal hypotonia Retrognathia Hyperkeratosis Polydactyly Adducted thumb Large fontanelles Cholangitis Abnormality of the middle ear Liver abscess Sclerosing cholangitis Single ventricle Crossed fused renal ectopia Anorectal anomaly Common atrium Vertebral clefting Epibulbar dermoid Recurrent aspiration pneumonia Premature thelarche Prominent fingertip pads Biliary atresia Bronchomalacia Diaphragmatic eventration Ureteropelvic junction obstruction Recurrent ear infections Anterior plagiocephaly Broad philtrum Small face Prominent eyelashes Eversion of lateral third of lower eyelids Hypotelorism Choroideremia Short foot Prominent nasal bridge High forehead Inguinal hernia Macrocephaly Flexion contracture Recurrent bacterial meningitis Chronic oral candidiasis Plethora Recurrent fungal infections Short nasal septum Hypoplasia of the thymus Patent ductus arteriosus Agammaglobulinemia Bronchitis Congenital mitral stenosis Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Visual loss Hyperpigmentation of the skin Clinodactyly Silver-gray hair Anteverted nares Frontal bossing Downslanted palpebral fissures Depressed nasal bridge Cognitive impairment Hypertelorism Accumulation of melanosomes in melanocytes Melanin pigment aggregation in hair shafts Cutaneous anergy Prominent forehead Reduced delayed hypersensitivity Abnormality of neutrophils Edema of the lower limbs Abnormal eyebrow morphology Abnormal eyelash morphology Abnormality of lipid metabolism Pyloric stenosis Hypopigmented skin patches Long philtrum Osteoporosis Bone marrow hypocellularity Aciduria Abnormality of the immune system Recurrent upper respiratory tract infections Aortic regurgitation Abnormality of the hair Hepatic fibrosis Depressed nasal ridge Fine hair Tetralogy of Fallot Premature birth Proptosis Bifid uvula Dry skin Delayed puberty Pulmonic stenosis Small for gestational age Broad forehead Microtia Sparse hair Wide mouth Reduced tendon reflexes Encephalocele Iron deficiency anemia Increased intracranial pressure Increased CSF protein Episodic fever Increased antibody level in blood Abnormality of the coagulation cascade Hyponatremia Hemiplegia Encephalitis Eosinophilia Aspiration Acute leukemia Gliosis Tetraplegia Coma Confusion Irritability Encephalopathy Prolonged neonatal jaundice Decreased liver function Hypermetropia Increased serum ferritin Hypoproteinemia Progressive neurologic deterioration Polyneuritis Abnormal cerebellum morphology Ascites Lethargy Hydrocephalus Spasticity Abnormal natural killer cell physiology Lipogranulomatosis Plasmacytosis CSF pleocytosis Prolonged partial thromboplastin time Increased VLDL cholesterol concentration T-cell lymphoma Granulocytopenia Increased total bilirubin Increased LDL cholesterol concentration Histiocytosis Cellular immunodeficiency Prolonged prothrombin time Decreased HDL cholesterol concentration Curly hair Underdeveloped supraorbital ridges Hypospadias Generalized hyperpigmentation Hypersplenism Progressive peripheral neuropathy Spinocerebellar tract degeneration Generalized hypopigmentation Fair hair Periodontitis Gingivitis Gingival bleeding Resting tremor Recurrent bacterial skin infections Sensory axonal neuropathy Cerebral hemorrhage Melanocytic nevus Decreased nerve conduction velocity Abnormality of vision Foot dorsiflexor weakness Skin ulcer Amblyopia Cutaneous photosensitivity Macular hypoplasia Oculogyric crisis Abnormality of extrapyramidal motor function Brachydactyly Depressivity Obesity Dilatation Kyphosis Intellectual disability, mild Abnormality of the dentition Abnormality of the skeletal system Myopia High palate Abnormal leukocyte morphology Cryptorchidism Cleft palate Micrognathia Scoliosis 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 Epistaxis Bradykinesia Thrombocytosis Hypergalactosemia Visual impairment Abnormalities of placenta or umbilical cord Large placenta Abnormality of iron homeostasis Galactosuria Hypermethioninemia Renal cortical microcysts Increased serum iron Secretory diarrhea Skeletal muscle atrophy Intractable diarrhea Intermittent diarrhea Increased mean platelet volume Peripheral pulmonary artery stenosis Abnormal thrombocyte morphology Abnormality of the pancreas Villous atrophy Large forehead Woolly hair Peripheral neuropathy Tremor Gastrointestinal hemorrhage Paraplegia Brain atrophy Parkinsonism Neurodegeneration Sensory neuropathy Bruising susceptibility Falls Peripheral axonal neuropathy Paresthesia Spastic paraplegia Gait disturbance Developmental regression Abnormality of the eye Mental deterioration Photophobia Difficulty walking Reduced visual acuity Recurrent respiratory infections Hyporeflexia Areflexia Type II transferrin isoform profile


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