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X-linked agammaglobulinemia with growth hormone deficiency(IGHD3)

MedGen UID:: 141630
•Concept ID:: C0472813
•: Disease or Syndrome

Synonyms:	Agammaglobulinemia and isolated growth hormone deficiency, X-linked; Fleisher syndrome; Growth hormone deficiency with hypogammaglobulinemia; Hypogammaglobulinemia and isolated growth hormone deficiency, X-linked; IGHD III; IGHD3; Isolated growth hormone deficiency type 3; ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA
SNOMED CT:	X-linked agammaglobulinemia with growth hormone deficiency (234533006); Fleisher syndrome (234533006); Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia (234533006)
Modes of inheritance:	X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record X-linked recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	BTK (Xq22.1)

Monarch Initiative:	MONDO:0010615
OMIM®:	307200
Orphanet:	ORPHA231692

Definition

IGHD3 is characterized by agammaglobulinemia and markedly reduced numbers of B cells, short stature, delayed bone age, and good response to treatment with growth hormone (summary by Conley et al., 1991). For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see 262400. [from OMIM]

Additional description

From MedlinePlus Genetics
Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone. Growth hormone is a protein that is necessary for the normal growth of the body's bones and tissues. Because they do not have enough of this hormone, people with isolated growth hormone deficiency commonly experience a failure to grow at the expected rate and have unusually short stature. This condition is usually apparent by early childhood.

There are four types of isolated growth hormone deficiency differentiated by the severity of the condition, the gene involved, and the inheritance pattern.

Individuals with isolated growth hormone deficiency type II have very low levels of growth hormone and short stature that varies in severity. Growth failure in these individuals is usually evident in early to mid-childhood. It is estimated that nearly half of the individuals with type II have underdevelopment of the pituitary gland (pituitary hypoplasia). The pituitary gland is located at the base of the brain and produces many hormones, including growth hormone.

Isolated growth hormone deficiency type IA is caused by an absence of growth hormone and is the most severe of all the types. In people with type IA, growth failure is evident in infancy as affected babies are shorter than normal at birth.

People with isolated growth hormone deficiency type IB produce very low levels of growth hormone. As a result, type IB is characterized by short stature, but this growth failure is typically not as severe as in type IA. Growth failure in people with type IB is usually apparent in early to mid-childhood.

Isolated growth hormone deficiency type III is similar to type II in that affected individuals have very low levels of growth hormone and short stature that varies in severity. Growth failure in type III is usually evident in early to mid-childhood. People with type III may also have a weakened immune system and are prone to frequent infections. They produce very few B cells, which are specialized white blood cells that help protect the body against infection (agammaglobulinemia). https://medlineplus.gov/genetics/condition/isolated-growth-hormone-deficiency

Clinical features

From HPO

Recurrent urinary tract infections

MedGen UID:: 120466
•Concept ID:: C0262655
•: Disease or Syndrome

Repeated infections of the urinary tract.

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Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

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Diarrhea

MedGen UID:: 8360
•Concept ID:: C0011991
•: Sign or Symptom

Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.

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Enteroviral hepatitis

MedGen UID:: 334558
•Concept ID:: C1843995
•: Disease or Syndrome

Inflammation of the liver due to infection with enterovirus.

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Hearing impairment

MedGen UID:: 235586
•Concept ID:: C1384666
•: Disease or Syndrome

A decreased magnitude of the sensory perception of sound.

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Infective arthritis

MedGen UID:: 13918
•Concept ID:: C0003869
•: Disease or Syndrome

The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.

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Delayed skeletal maturation

MedGen UID:: 108148
•Concept ID:: C0541764
•: Finding

A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.

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Conjunctivitis

MedGen UID:: 1093
•Concept ID:: C0009763
•: Disease or Syndrome

Inflammation of the conjunctiva.

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Epididymitis

MedGen UID:: 4986
•Concept ID:: C0014534
•: Disease or Syndrome

The presence of inflammation of the epididymis.

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Meningitis

MedGen UID:: 6298
•Concept ID:: C0025289
•: Disease or Syndrome

Inflammation of the meninges.

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Pneumonia

MedGen UID:: 10813
•Concept ID:: C0032285
•: Disease or Syndrome

Inflammation of any part of the lung parenchyma.

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Prostatitis

MedGen UID:: 10965
•Concept ID:: C0033581
•: Disease or Syndrome

The presence of inflammation of the prostate.

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Pyoderma

MedGen UID:: 18783
•Concept ID:: C0034212
•: Disease or Syndrome

Any manifestation of a skin disease associated with the production of pus.

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Sinusitis

MedGen UID:: 20772
•Concept ID:: C0037199
•: Disease or Syndrome

Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.

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Infectious encephalitis

MedGen UID:: 108917
•Concept ID:: C0596773
•: Disease or Syndrome

A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity.

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Recurrent otitis media

MedGen UID:: 155436
•Concept ID:: C0747085
•: Disease or Syndrome

Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.

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Panhypogammaglobulinemia

MedGen UID:: 233072
•Concept ID:: C1328587
•: Finding

A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.

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Recurrent bacterial infections

MedGen UID:: 334943
•Concept ID:: C1844383
•: Finding

Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.

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Enteroviral dermatomyositis syndrome

MedGen UID:: 812990
•Concept ID:: C3806660
•: Finding

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Abnormal T cell count

MedGen UID:: 866762
•Concept ID:: C4021113
•: Finding

A deviation from the normal count of T cells.

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Absent circulating B cells

MedGen UID:: 868166
•Concept ID:: C4022558
•: Finding

Complete lack of mature B cells, that is, of B cells that have left the bone marrow.

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Recurrent enteroviral infections

MedGen UID:: 871203
•Concept ID:: C4025681
•: Finding

Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection.

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Delayed puberty

MedGen UID:: 46203
•Concept ID:: C0034012
•: Pathologic Function

Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.

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Decreased response to growth hormone stimulation test

MedGen UID:: 1784655
•Concept ID:: C5539399
•: Finding

Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.

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